Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C32 |
Reference Plasmid |
AP017383.1 |
Reference Plasmid Size |
62260 |
Reference Plasmid GC Content |
0.42 |
Reference Plasmid Mobility Type |
mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0057193 |
JEBKDPKI_00029 |
22419 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
166T>C |
Tyr56His |
M0057194 |
JEBKDPKI_00027 |
22621 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1946C>A |
None |
M0057195 |
JEBKDPKI_00030 |
23459 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1450C>T |
Leu484Leu |
M0057196 |
JEBKDPKI_00030 |
23486 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1423G>A |
Glu475Lys |
M0057197 |
JEBKDPKI_00030 |
23719 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1190C>A |
Pro397Gln |
M0057198 |
JEBKDPKI_00030 |
24159 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
750G>T |
Met250Ile |
M0057199 |
JEBKDPKI_00030 |
24353 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
556G>A |
Ala186Thr |
M0057200 |
JEBKDPKI_00030 |
24413 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
496A>G |
Asn166Asp |
M0057201 |
JEBKDPKI_00027 |
25071 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4396T>A |
None |
M0057202 |
JEBKDPKI_00038 |
37896 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
288G>T |
Ala96Ala |
M0057203 |
JEBKDPKI_00039 |
38725 |
12 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-11A>G |
None |
M0057204 |
JEBKDPKI_00035 |
31055 |
10 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-110T>C |
None |
M0057205 |
JEBKDPKI_00035 |
31209 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Arg15Arg |
M0057206 |
JEBKDPKI_00035 |
31239 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Thr25Thr |
M0057207 |
JEBKDPKI_00035 |
31583 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
419G>A |
Ser140Asn |
M0057208 |
JEBKDPKI_00035 |
31749 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Asp195Asp |
M0057209 |
JEBKDPKI_00035 |
32109 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
945C>G |
Ile315Met |
M0057210 |
JEBKDPKI_00035 |
32220 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1056G>T |
Val352Val |
M0057211 |
JEBKDPKI_00035 |
32733 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1569C>T |
Gly523Gly |
M0057212 |
JEBKDPKI_00035 |
32931 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1767T>C |
Gly589Gly |
M0057213 |
JEBKDPKI_00035 |
32958 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1794T>C |
Ser598Ser |
M0057214 |
JEBKDPKI_00035 |
34097 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2933G>A |
Arg978His |
M0057215 |
JEBKDPKI_00035 |
34409 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3245A>T |
Tyr1082Phe |
M0057216 |
JEBKDPKI_00036 |
34877 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-281C>A |
None |
M0057217 |
JEBKDPKI_00036 |
34900 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-258C>G |
None |
M0057218 |
JEBKDPKI_00036 |
35244 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Val29Val |
M0057219 |
JEBKDPKI_00036 |
35442 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Pro95Pro |
M0057220 |
JEBKDPKI_00036 |
35928 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
771A>G |
Val257Val |
M0057221 |
JEBKDPKI_00036 |
36642 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1485T>C |
Asn495Asn |
M0057222 |
JEBKDPKI_00036 |
36692 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1535A>G |
Asn512Ser |
M0057223 |
JEBKDPKI_00037 |
36754 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
57C>G |
His19Gln |
M0057224 |
JEBKDPKI_00037 |
36766 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
His23His |
M0057225 |
JEBKDPKI_00037 |
36867 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
170T>A |
Ile57Asn |
M0057226 |
JEBKDPKI_00037 |
37211 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
514A>G |
Thr172Ala |
M0057227 |
JEBKDPKI_00038 |
38277 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Ala223Ala |
M0057228 |
JEBKDPKI_00038 |
38290 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
682C>T |
Leu228Phe |
M0057229 |
JEBKDPKI_00038 |
38292 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
684T>G |
Leu228Leu |
M0057230 |
JEBKDPKI_00038 |
38301 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Arg231Arg |
M0057231 |
JEBKDPKI_00038 |
38313 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
705C>G |
Val235Val |
M0057232 |
JEBKDPKI_00038 |
38323 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
715A>T |
Thr239Ser |
M0057233 |
JEBKDPKI_00039 |
38374 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-362T>C |
None |
M0057234 |
JEBKDPKI_00039 |
38418 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-318T>C |
None |
M0057235 |
JEBKDPKI_00039 |
38591 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-145T>C |
None |
M0057236 |
JEBKDPKI_00039 |
38642 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-94T>G |
None |
M0057237 |
JEBKDPKI_00039 |
38651 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-85T>C |
None |
M0057238 |
JEBKDPKI_00052 |
50421 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Gly26Asp |
M0057239 |
JEBKDPKI_00052 |
50486 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Tyr4Tyr |
M0057240 |
JEBKDPKI_00053 |
50789 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
162A>C |
Arg54Arg |
M0057241 |
JEBKDPKI_00054 |
50939 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
49A>G |
Ser17Gly |
M0057242 |
JEBKDPKI_00054 |
51013 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
123G>C |
Ala41Ala |
M0057243 |
JEBKDPKI_00054 |
51292 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Leu134Leu |
M0057244 |
JEBKDPKI_00051 |
51576 |
7 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1479G>A |
None |
M0057245 |
JEBKDPKI_00051 |
51605 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1508A>G |
None |
M0057246 |
JEBKDPKI_00051 |
51625 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1528C>T |
None |
M0057247 |
JEBKDPKI_00051 |
51626 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1529C>A |
None |
M0057248 |
JEBKDPKI_00055 |
51849 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Lys42Lys |
M0057249 |
JEBKDPKI_00031 |
25772 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Val203Val |
M0057250 |
JEBKDPKI_00047 |
46671 |
11 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
61G>A |
Ala21Thr |
M0057251 |
JEBKDPKI_00047 |
46973 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Ala121Ala |
M0057252 |
JEBKDPKI_00049 |
47691 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ile80Ile |
M0057253 |
JEBKDPKI_00049 |
47721 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Ala90Ala |
M0057254 |
JEBKDPKI_00050 |
48657 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Val232Val |
M0057255 |
JEBKDPKI_00050 |
48685 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
724C>T |
Leu242Phe |
M0057256 |
JEBKDPKI_00051 |
49955 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
143G>A |
Arg48Lys |
M0057257 |
JEBKDPKI_00051 |
49962 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Arg46Gly |
M0057258 |
JEBKDPKI_00011 |
8292 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
84G>C |
Pro28Pro |
M0057259 |
JEBKDPKI_00012 |
8727 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
244G>A |
Val82Ile |
M0057260 |
JEBKDPKI_00009 |
9436 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2897C>A |
None |
M0057261 |
JEBKDPKI_00009 |
9459 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2920A>G |
None |
M0057262 |
JEBKDPKI_00034 |
30927 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1085C>G |
Ala362Gly |
M0057263 |
JEBKDPKI_00035 |
31029 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-136G>A |
None |
M0057264 |
JEBKDPKI_00035 |
31371 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Cys69Cys |
M0057265 |
JEBKDPKI_00035 |
31605 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Ala147Ala |
M0057266 |
JEBKDPKI_00035 |
31731 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Val189Val |
M0057267 |
JEBKDPKI_00035 |
31783 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
619G>A |
Val207Ile |
M0057268 |
JEBKDPKI_00035 |
31784 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
620T>C |
Val207Ala |
M0057269 |
JEBKDPKI_00035 |
31800 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Thr212Thr |
M0057270 |
JEBKDPKI_00035 |
31803 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Asp213Asp |
M0057271 |
JEBKDPKI_00035 |
31806 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
642A>C |
Val214Val |
M0057272 |
JEBKDPKI_00035 |
31809 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645A>T |
Pro215Pro |
M0057273 |
JEBKDPKI_00035 |
31813 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
649T>G |
Ser217Ala |
M0057274 |
JEBKDPKI_00035 |
32655 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1491T>C |
Arg497Arg |
M0057275 |
JEBKDPKI_00035 |
32833 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1669T>G |
Ser557Ala |
M0057276 |
JEBKDPKI_00035 |
32929 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1765G>A |
Gly589Ser |
M0057277 |
JEBKDPKI_00035 |
33843 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2679C>T |
Ser893Ser |
M0057278 |
JEBKDPKI_00036 |
35725 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
568G>A |
Ala190Thr |
M0057279 |
JEBKDPKI_00036 |
35967 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
810C>T |
Gly270Gly |
M0057280 |
JEBKDPKI_00036 |
36612 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1455C>T |
Asn485Asn |
M0057281 |
JEBKDPKI_00036 |
36678 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1521G>A |
Val507Val |
M0057282 |
JEBKDPKI_00037 |
36769 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
72T>G |
Asp24Glu |
M0057283 |
JEBKDPKI_00037 |
37012 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
His105His |
M0057284 |
JEBKDPKI_00039 |
38982 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
247A>C |
Ile83Leu |
M0057285 |
JEBKDPKI_00039 |
39057 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
322G>A |
Asp108Asn |
M0057286 |
JEBKDPKI_00039 |
39134 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Tyr133Tyr |
M0057287 |
JEBKDPKI_00018 |
13808 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1517G>A |
Arg506His |
M0057288 |
JEBKDPKI_00018 |
13809 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1518T>C |
Arg506Arg |
M0057289 |
JEBKDPKI_00018 |
13935 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1644G>A |
Leu548Leu |
M0057290 |
JEBKDPKI_00018 |
13995 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1704A>G |
Val568Val |
M0057291 |
JEBKDPKI_00016 |
15281 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4528C>A |
None |
M0057292 |
JEBKDPKI_00064 |
58651 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
425C>A |
Pro142Gln |
M0057293 |
JEBKDPKI_00064 |
58664 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
438A>G |
Ile146Met |
M0057294 |
JEBKDPKI_00064 |
58683 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Ala153Thr |
M0057295 |
JEBKDPKI_00065 |
59198 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Lys7Lys |
M0057296 |
JEBKDPKI_00065 |
59209 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
10T>C |
Tyr4His |
M0057297 |
JEBKDPKI_00062 |
59602 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2192T>A |
None |
M0057298 |
JEBKDPKI_00067 |
59846 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Leu54Leu |
M0057299 |
JEBKDPKI_00067 |
59847 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
163G>A |
Asp55Asn |
M0057300 |
JEBKDPKI_00067 |
59849 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Asp55Asp |
M0057301 |
JEBKDPKI_00067 |
59852 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Cys56Cys |
M0057302 |
JEBKDPKI_00067 |
59853 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Ser57Gly |
M0057303 |
JEBKDPKI_00067 |
59854 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
170G>C |
Ser57Thr |
M0057304 |
JEBKDPKI_00067 |
59855 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
171C>A |
Ser57Arg |
M0057305 |
JEBKDPKI_00067 |
59867 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Leu61Leu |
M0057306 |
JEBKDPKI_00062 |
59957 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2547T>G |
None |
M0057307 |
JEBKDPKI_00049 |
47871 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
420G>A |
Ala140Ala |
M0057308 |
JEBKDPKI_00050 |
47991 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
30T>C |
Phe10Phe |
M0057309 |
JEBKDPKI_00050 |
48060 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
99C>A |
Gly33Gly |
M0057310 |
JEBKDPKI_00050 |
48199 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
238G>A |
Val80Ile |
M0057311 |
JEBKDPKI_00050 |
48241 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
280T>C |
Tyr94His |
M0057312 |
JEBKDPKI_00050 |
48345 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Ser128Ser |
M0057313 |
JEBKDPKI_00050 |
48346 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
385A>C |
Lys129Gln |
M0057314 |
JEBKDPKI_00050 |
48349 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
388T>G |
Trp130Gly |
M0057315 |
JEBKDPKI_00050 |
48435 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Leu158Leu |
M0057316 |
JEBKDPKI_00050 |
48464 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
503T>C |
Val168Ala |
M0057317 |
JEBKDPKI_00050 |
48507 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
546G>A |
Met182Ile |
M0057318 |
JEBKDPKI_00050 |
48551 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
590T>A |
Phe197Tyr |
M0057319 |
JEBKDPKI_00050 |
48603 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
642C>G |
Ala214Ala |
M0057320 |
JEBKDPKI_00053 |
48752 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1876G>C |
None |
M0057321 |
JEBKDPKI_00053 |
48779 |
7 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1849T>C |
None |
M0057322 |
JEBKDPKI_00054 |
51424 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
534C>A |
Ala178Ala |
M0057323 |
JEBKDPKI_00051 |
51633 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1536C>T |
None |
M0057324 |
JEBKDPKI_00018 |
12822 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531C>A |
Ala177Ala |
M0057325 |
JEBKDPKI_00019 |
15169 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Ala80Ala |
M0057326 |
JEBKDPKI_00019 |
15178 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Lys83Lys |
M0057327 |
JEBKDPKI_00019 |
15182 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
253A>C |
Ile85Leu |
M0057328 |
JEBKDPKI_00019 |
15195 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
266A>G |
Gln89Arg |
M0057329 |
JEBKDPKI_00048 |
47087 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
8C>T |
Thr3Met |
M0057330 |
JEBKDPKI_00048 |
47325 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
246T>G |
Gly82Gly |
M0057331 |
JEBKDPKI_00042 |
47365 |
7 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4143A>G |
None |
M0057332 |
JEBKDPKI_00042 |
47374 |
7 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4152T>C |
None |
M0057333 |
JEBKDPKI_00049 |
47521 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
70G>C |
Glu24Gln |
M0057334 |
JEBKDPKI_00050 |
48243 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Tyr94Tyr |
M0057335 |
JEBKDPKI_00050 |
48708 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
747G>A |
Ala249Ala |
M0057336 |
JEBKDPKI_00053 |
48835 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1793C>T |
None |
M0057337 |
JEBKDPKI_00053 |
48838 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1790C>A |
None |
M0057338 |
JEBKDPKI_00053 |
48840 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1788C>T |
None |
M0057339 |
JEBKDPKI_00053 |
48841 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1787G>T |
None |
M0057340 |
JEBKDPKI_00053 |
48876 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1752T>C |
None |
M0057341 |
JEBKDPKI_00053 |
48882 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1746A>G |
None |
M0057342 |
JEBKDPKI_00053 |
48898 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1730C>A |
None |
M0057343 |
JEBKDPKI_00010 |
12258 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4109T>C |
None |
M0057344 |
JEBKDPKI_00010 |
12268 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4119A>G |
None |
M0057345 |
JEBKDPKI_00043 |
43810 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Tyr116Tyr |
M0057346 |
JEBKDPKI_00043 |
43950 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
488C>G |
Thr163Arg |
M0057347 |
JEBKDPKI_00043 |
43984 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Ile174Ile |
M0057348 |
JEBKDPKI_00043 |
44168 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
706T>G |
Leu236Val |
M0057349 |
JEBKDPKI_00043 |
44213 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
751C>T |
Arg251Cys |
M0057350 |
JEBKDPKI_00043 |
44224 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
762G>T |
Glu254Asp |
M0057351 |
JEBKDPKI_00043 |
44377 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
915A>G |
Val305Val |
M0057352 |
JEBKDPKI_00043 |
44380 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
918G>T |
Thr306Thr |
M0057353 |
JEBKDPKI_00042 |
44521 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1299G>T |
None |
M0057354 |
JEBKDPKI_00042 |
44554 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1332G>A |
None |
M0057355 |
JEBKDPKI_00042 |
44569 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1347T>C |
None |
M0057356 |
JEBKDPKI_00042 |
44585 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1363A>G |
None |
M0057357 |
JEBKDPKI_00042 |
44599 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1377G>A |
None |
M0057358 |
JEBKDPKI_00042 |
44622 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1400A>T |
None |
M0057359 |
JEBKDPKI_00042 |
44627 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1405T>C |
None |
M0057360 |
JEBKDPKI_00044 |
44658 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
6A>C |
Pro2Pro |
M0057361 |
JEBKDPKI_00044 |
44865 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ser71Ser |
M0057362 |
JEBKDPKI_00042 |
45383 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2161T>G |
None |
M0057363 |
JEBKDPKI_00045 |
45552 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
119T>C |
Val40Ala |
M0057364 |
JEBKDPKI_00045 |
45598 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
165C>T |
Tyr55Tyr |
M0057365 |
JEBKDPKI_00045 |
45680 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
247G>A |
Val83Ile |
M0057366 |
JEBKDPKI_00045 |
45691 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Ser86Ser |
M0057367 |
JEBKDPKI_00045 |
45934 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
His167His |
M0057368 |
JEBKDPKI_00045 |
45946 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Val171Val |
M0057369 |
JEBKDPKI_00045 |
45949 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Asn172Asn |
M0057370 |
JEBKDPKI_00045 |
45955 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
522T>A |
Thr174Thr |
M0057371 |
JEBKDPKI_00046 |
45965 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Asp3Asp |
M0057372 |
JEBKDPKI_00046 |
45966 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
10T>C |
Leu4Leu |
M0057373 |
JEBKDPKI_00046 |
45968 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Leu4Leu |
M0057374 |
JEBKDPKI_00046 |
45974 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
18A>T |
Gly6Gly |
M0057375 |
JEBKDPKI_00046 |
45995 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Gly13Gly |
M0057376 |
JEBKDPKI_00046 |
46056 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
100T>C |
Leu34Leu |
M0057377 |
JEBKDPKI_00046 |
46190 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Val78Val |
M0057378 |
JEBKDPKI_00046 |
46377 |
9 |
Skin |
0.10 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
421T>G |
Ter141Gluext*? |
M0057379 |
JEBKDPKI_00047 |
46899 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
289C>G |
His97Asp |
M0057380 |
JEBKDPKI_00047 |
46916 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306G>C |
Val102Val |
M0057381 |
JEBKDPKI_00047 |
46937 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Thr109Thr |
M0057382 |
JEBKDPKI_00047 |
46949 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
339C>G |
Gly113Gly |
M0057383 |
JEBKDPKI_00047 |
46952 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342A>C |
Val114Val |
M0057384 |
JEBKDPKI_00047 |
46961 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Glu117Glu |
M0057385 |
JEBKDPKI_00047 |
46964 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Ala118Ala |
M0057386 |
JEBKDPKI_00047 |
46967 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Leu119Leu |
M0057387 |
JEBKDPKI_00047 |
47008 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
398C>G |
Thr133Ser |
M0057388 |
JEBKDPKI_00048 |
47328 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Gly83Gly |
M0057389 |
JEBKDPKI_00042 |
47351 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4129A>G |
None |
M0057390 |
JEBKDPKI_00042 |
47352 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4130T>C |
None |
M0057391 |
JEBKDPKI_00042 |
47385 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4163C>G |
None |
M0057392 |
JEBKDPKI_00049 |
47495 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
44G>A |
Gly15Glu |
M0057393 |
JEBKDPKI_00064 |
58365 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Ile47Val |
M0057394 |
JEBKDPKI_00062 |
59617 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2207C>A |
None |
M0057395 |
JEBKDPKI_00062 |
59629 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2219T>C |
None |
M0057396 |
JEBKDPKI_00062 |
59647 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2237C>G |
None |
M0057397 |
JEBKDPKI_00020 |
16189 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14T>C |
None |
M0057398 |
JEBKDPKI_00050 |
48486 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Ala175Ala |
M0057399 |
JEBKDPKI_00053 |
48740 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1888C>A |
None |
M0057400 |
JEBKDPKI_00053 |
48845 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1783T>G |
None |
M0057401 |
JEBKDPKI_00053 |
48922 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1706G>A |
None |
M0057402 |
JEBKDPKI_00035 |
34044 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2880G>C |
Gly960Gly |
M0057403 |
JEBKDPKI_00035 |
34692 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3528T>C |
Thr1176Thr |
M0057404 |
JEBKDPKI_00036 |
35024 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-134T>C |
None |
M0057405 |
JEBKDPKI_00036 |
35226 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69A>T |
Ser23Ser |
M0057406 |
JEBKDPKI_00036 |
35397 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
240C>A |
Gly80Gly |
M0057407 |
JEBKDPKI_00036 |
35751 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Gly198Gly |
M0057408 |
JEBKDPKI_00039 |
39209 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Cys158Cys |
M0057409 |
JEBKDPKI_00039 |
39446 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Val237Val |
M0057410 |
JEBKDPKI_00039 |
39527 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Leu264Leu |
M0057411 |
JEBKDPKI_00040 |
40008 |
9 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-239G>A |
None |
M0057412 |
JEBKDPKI_00040 |
40084 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-163C>A |
None |
M0057413 |
JEBKDPKI_00040 |
40114 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-133A>C |
None |
M0057414 |
JEBKDPKI_00040 |
40123 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-124G>A |
None |
M0057415 |
JEBKDPKI_00040 |
40360 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
114T>A |
Thr38Thr |
M0057416 |
JEBKDPKI_00040 |
40462 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Pro72Pro |
M0057417 |
JEBKDPKI_00040 |
40621 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Asn125Asn |
M0057418 |
JEBKDPKI_00040 |
40623 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
377C>G |
Thr126Ser |
M0057419 |
JEBKDPKI_00040 |
40675 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
429G>C |
Leu143Leu |
M0057420 |
JEBKDPKI_00040 |
40702 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Pro152Pro |
M0057421 |
JEBKDPKI_00040 |
40709 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
463A>G |
Ser155Gly |
M0057422 |
JEBKDPKI_00040 |
40786 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Pro180Pro |
M0057423 |
JEBKDPKI_00040 |
40900 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Glu218Glu |
M0057424 |
JEBKDPKI_00040 |
40931 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
685C>T |
Leu229Leu |
M0057425 |
JEBKDPKI_00040 |
40954 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Ser236Ser |
M0057426 |
JEBKDPKI_00040 |
41024 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
778A>G |
Ser260Gly |
M0057427 |
JEBKDPKI_00040 |
41176 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
930A>G |
Leu310Leu |
M0057428 |
JEBKDPKI_00041 |
41330 |
13 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-150A>C |
None |
M0057429 |
JEBKDPKI_00041 |
41425 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-55G>T |
None |
M0057430 |
JEBKDPKI_00041 |
41700 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
221G>A |
Arg74His |
M0057431 |
JEBKDPKI_00041 |
41758 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Leu93Leu |
M0057432 |
JEBKDPKI_00041 |
41794 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
315G>T |
Ala105Ala |
M0057433 |
JEBKDPKI_00041 |
41795 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
316G>A |
Val106Ile |
M0057434 |
JEBKDPKI_00041 |
42023 |
15 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
544A>G |
Met182Val |
M0057435 |
JEBKDPKI_00041 |
42044 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
565T>G |
Ser189Ala |
M0057436 |
JEBKDPKI_00041 |
42097 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Gly206Gly |
M0057437 |
JEBKDPKI_00041 |
42110 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
631C>G |
His211Asp |
M0057438 |
JEBKDPKI_00041 |
42130 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Asn217Asn |
M0057439 |
JEBKDPKI_00041 |
42270 |
12 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
791G>C |
Ser264Thr |
M0057440 |
JEBKDPKI_00041 |
42343 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Tyr288Tyr |
M0057441 |
JEBKDPKI_00041 |
42495 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1016C>G |
Ala339Gly |
M0057442 |
JEBKDPKI_00041 |
42508 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1029A>G |
Ile343Met |
M0057443 |
JEBKDPKI_00041 |
42532 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1053G>A |
Leu351Leu |
M0057444 |
JEBKDPKI_00041 |
42652 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1173A>G |
Ser391Ser |
M0057445 |
JEBKDPKI_00042 |
43092 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
131C>T |
Pro44Leu |
M0057446 |
JEBKDPKI_00042 |
43123 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Asn34Asp |
M0057447 |
JEBKDPKI_00042 |
43257 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-35T>C |
None |
M0057448 |
JEBKDPKI_00042 |
43358 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-136T>C |
None |
M0057449 |
JEBKDPKI_00043 |
43466 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
4C>T |
Pro2Ser |
M0057450 |
JEBKDPKI_00043 |
43467 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
5C>A |
Pro2His |
M0057451 |
JEBKDPKI_00044 |
45287 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
635T>C |
Val212Ala |
M0057452 |
JEBKDPKI_00045 |
45838 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Cys135Cys |
M0057453 |
JEBKDPKI_00047 |
46790 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Thr60Thr |
M0057454 |
JEBKDPKI_00047 |
46805 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195T>G |
Gly65Gly |
M0057455 |
JEBKDPKI_00035 |
33444 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2280A>G |
Leu760Leu |
M0057456 |
JEBKDPKI_00039 |
39789 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1054T>A |
Phe352Ile |
M0057457 |
JEBKDPKI_00045 |
45454 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Pro7Pro |
M0057458 |
JEBKDPKI_00028 |
21617 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Leu64Leu |
M0057459 |
JEBKDPKI_00028 |
21634 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
175C>T |
Leu59Leu |
M0057460 |
JEBKDPKI_00028 |
21734 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75G>T |
Arg25Arg |
M0057461 |
JEBKDPKI_00029 |
22435 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
150A>G |
Leu50Leu |
M0057462 |
JEBKDPKI_00029 |
22506 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
79A>C |
Ile27Leu |
M0057463 |
JEBKDPKI_00030 |
23190 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1719G>A |
Glu573Glu |
M0057464 |
JEBKDPKI_00030 |
24323 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
586A>C |
Ser196Arg |
M0057465 |
JEBKDPKI_00027 |
21910 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1235T>G |
None |
M0057466 |
JEBKDPKI_00020 |
15960 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
216T>G |
Val72Val |
M0057467 |
JEBKDPKI_00020 |
15965 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
211T>C |
Leu71Leu |
M0057468 |
JEBKDPKI_00020 |
15972 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Tyr68Tyr |
M0057469 |
JEBKDPKI_00020 |
16311 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-136G>T |
None |
M0057470 |
JEBKDPKI_00021 |
16362 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
548A>C |
Asp183Ala |
M0057471 |
JEBKDPKI_00021 |
16385 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Thr175Thr |
M0057472 |
JEBKDPKI_00041 |
41389 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-91C>T |
None |
M0057473 |
JEBKDPKI_00041 |
41449 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-31C>T |
None |
M0057474 |
JEBKDPKI_00041 |
41551 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72C>A |
Leu24Leu |
M0057475 |
JEBKDPKI_00041 |
41753 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
274A>G |
Thr92Ala |
M0057476 |
JEBKDPKI_00041 |
42073 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Thr198Thr |
M0057477 |
JEBKDPKI_00044 |
45336 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Val228Val |
M0057478 |
JEBKDPKI_00044 |
45362 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
710A>G |
Asp237Gly |
M0057479 |
JEBKDPKI_00041 |
41719 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
240G>C |
Val80Val |
M0057480 |
JEBKDPKI_00041 |
41880 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
401G>T |
Arg134Leu |
M0057481 |
JEBKDPKI_00039 |
39369 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
634C>A |
Arg212Arg |
M0057482 |
JEBKDPKI_00039 |
39386 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Cys217Cys |
M0057483 |
JEBKDPKI_00040 |
40484 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
238C>G |
Gln80Glu |
M0057484 |
JEBKDPKI_00040 |
40937 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
691G>A |
Glu231Lys |
M0057485 |
JEBKDPKI_00041 |
42719 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1240A>G |
Thr414Ala |
M0057486 |
JEBKDPKI_00039 |
39743 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1008A>G |
Ala336Ala |
M0057487 |
JEBKDPKI_00040 |
40571 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
325G>A |
Val109Ile |
M0057488 |
JEBKDPKI_00040 |
40713 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
467T>A |
Val156Glu |
M0057489 |
JEBKDPKI_00041 |
41879 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
400C>T |
Arg134Cys |
M0057490 |
JEBKDPKI_00041 |
42764 |
5 |
Skin |
0.06 |
protein_coding |
stop_gained |
HIGH |
1285C>T |
Gln429* |
M0057491 |
JEBKDPKI_00043 |
43789 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Val109Val |
M0057492 |
JEBKDPKI_00043 |
43855 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Asn131Asn |
M0057493 |
JEBKDPKI_00045 |
45730 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Val99Val |
M0057494 |
JEBKDPKI_00039 |
39635 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Val300Val |
M0057495 |
JEBKDPKI_00040 |
41050 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Gly268Gly |
M0057496 |
JEBKDPKI_00043 |
43549 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Leu29Leu |
M0057497 |
JEBKDPKI_00044 |
45249 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
597A>G |
Gln199Gln |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
JEBKDPKI_00035 |
PHI:10512 |
narG |
70.1 |
0 |
5 |
1222 |
0.9894 |
0.9735 |
rodents |
urinary tract infection |
respiratory nitrate reductase 1 alpha chain |
reduced virulence |
JEBKDPKI_00036 |
PHI:10513 |
narH |
73.7 |
3.8e-234 |
1 |
511 |
0.9980 |
0.9941 |
rodents |
urinary tract infection |
respiratory nitrate reductase 1 beta chain |
reduced virulence |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |
JEBKDPKI_00035 |
5.A.3.1.1 |
70.1 |
0 |
5 |
1222 |
0.9894 |
5.3956 |
5 |
Transmembrane Electron Carriers |
5.A |
Transmembrane 2-electron transfer carriers |
5.A.3 |
The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |
JEBKDPKI_00036 |
5.A.3.1.1 |
73.7 |
8.5e-234 |
1 |
511 |
0.9980 |
2.2622 |
5 |
Transmembrane Electron Carriers |
5.A |
Transmembrane 2-electron transfer carriers |
5.A.3 |
The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |