Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1589 |
Reference Plasmid |
1111525849480457_bin.14__k141_33206 |
Reference Plasmid Size |
21282 |
Reference Plasmid GC Content |
0.61 |
Reference Plasmid Mobility Type |
non-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 |
M0007989 |
LJLNLEBP_00001 |
606 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
507C>T |
Val169Val |
M0007990 |
LJLNLEBP_00003 |
813 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1405C>G |
None |
M0007991 |
LJLNLEBP_00003 |
837 |
23 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1381C>G |
None |
M0007992 |
LJLNLEBP_00002 |
1847 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Ala20Thr |
M0007993 |
LJLNLEBP_00002 |
2113 |
16 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-209C>T |
None |
M0007994 |
LJLNLEBP_00003 |
2356 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
139A>C |
Lys47Gln |
M0007995 |
LJLNLEBP_00003 |
2696 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
479T>C |
Leu160Ser |
M0007996 |
LJLNLEBP_00003 |
2842 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
625G>C |
Ala209Pro |
M0007997 |
LJLNLEBP_00006 |
4852 |
19 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
11C>T |
Ala4Val |
M0007998 |
LJLNLEBP_00002 |
5001 |
14 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3097C>T |
None |
M0007999 |
LJLNLEBP_00002 |
5027 |
14 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3123A>G |
None |
M0008000 |
LJLNLEBP_00002 |
6171 |
12 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4267A>G |
None |
M0008001 |
LJLNLEBP_00002 |
6623 |
43 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4719C>G |
None |
M0008002 |
LJLNLEBP_00015 |
9748 |
24 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
557G>C |
Gly186Ala |
M0008003 |
LJLNLEBP_00008 |
5858 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
227G>A |
Gly76Asp |
M0008004 |
LJLNLEBP_00022 |
15251 |
17 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
600C>G |
Phe200Leu |
M0008005 |
LJLNLEBP_00023 |
16418 |
16 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Gln20Arg |
M0008006 |
LJLNLEBP_00019 |
13192 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Ser54Ser |
M0008007 |
LJLNLEBP_00019 |
13207 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Val49Val |
M0008008 |
LJLNLEBP_00005 |
4485 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ile75Ile |
M0008009 |
LJLNLEBP_00005 |
4496 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
236C>T |
Ala79Val |
M0008010 |
LJLNLEBP_00002 |
5366 |
9 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3462G>A |
None |
M0008011 |
LJLNLEBP_00008 |
5880 |
10 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Leu83Leu |
M0008012 |
LJLNLEBP_00002 |
6370 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4466G>A |
None |
M0008013 |
LJLNLEBP_00013 |
8244 |
13 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
4G>A |
Val2Met |
M0008014 |
LJLNLEBP_00003 |
3415 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1198A>G |
Thr400Ala |
M0008015 |
LJLNLEBP_00025 |
20276 |
13 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
651G>T |
Ala217Ala |
M0008016 |
LJLNLEBP_00023 |
20977 |
10 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4501T>C |
None |
M0008017 |
LJLNLEBP_00010 |
7179 |
15 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Ser34Ser |
M0008018 |
LJLNLEBP_00022 |
15154 |
10 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
697A>G |
Thr233Ala |
M0008019 |
LJLNLEBP_00023 |
20979 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4503A>G |
None |
M0008020 |
LJLNLEBP_00004 |
3601 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Ala21Ala |
M0008021 |
LJLNLEBP_00004 |
3643 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Thr35Thr |
M0008022 |
LJLNLEBP_00004 |
3664 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Glu42Glu |
M0008023 |
LJLNLEBP_00004 |
3685 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Arg49Arg |
M0008024 |
LJLNLEBP_00004 |
3701 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
163C>T |
Leu55Leu |
M0008025 |
LJLNLEBP_00004 |
3727 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Gln63Gln |
M0008026 |
LJLNLEBP_00004 |
3745 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Ser69Ser |
M0008027 |
LJLNLEBP_00004 |
3761 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Thr75Ala |
M0008028 |
LJLNLEBP_00004 |
3769 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Ala77Ala |
M0008029 |
LJLNLEBP_00004 |
3775 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Thr79Thr |
M0008030 |
LJLNLEBP_00004 |
3784 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Cys82Cys |
M0008031 |
LJLNLEBP_00004 |
3799 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Ala87Ala |
M0008032 |
LJLNLEBP_00004 |
3946 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Arg136Arg |
M0008033 |
LJLNLEBP_00004 |
3968 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
430T>C |
Ser144Pro |
M0008034 |
LJLNLEBP_00004 |
3992 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
454A>G |
Lys152Glu |
M0008035 |
LJLNLEBP_00004 |
4066 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Phe176Phe |
M0008036 |
LJLNLEBP_00004 |
4088 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
550A>G |
Ile184Val |
M0008037 |
LJLNLEBP_00004 |
4136 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
598T>C |
Leu200Leu |
M0008038 |
LJLNLEBP_00004 |
4150 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Ala204Ala |
M0008039 |
LJLNLEBP_00004 |
4192 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Asn218Asn |
M0008040 |
LJLNLEBP_00004 |
4207 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
669T>C |
Leu223Leu |
M0008041 |
LJLNLEBP_00004 |
4215 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
677C>T |
Ala226Val |
M0008042 |
LJLNLEBP_00005 |
4276 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
16C>T |
Leu6Phe |
M0008043 |
LJLNLEBP_00005 |
4483 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Ile75Val |
M0008044 |
LJLNLEBP_00005 |
4513 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
253C>A |
His85Asn |
M0008045 |
LJLNLEBP_00005 |
4760 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
500C>T |
Pro167Leu |
M0008046 |
LJLNLEBP_00005 |
4765 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
505G>A |
Gly169Arg |
M0008047 |
LJLNLEBP_00005 |
4766 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
506G>A |
Gly169Glu |
M0008048 |
LJLNLEBP_00005 |
4767 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
507A>C |
Gly169Gly |
M0008049 |
LJLNLEBP_00005 |
4769 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
509C>T |
Ala170Val |
M0008050 |
LJLNLEBP_00005 |
4775 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
515T>C |
Ile172Thr |
M0008051 |
LJLNLEBP_00005 |
4777 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
517T>A |
Ser173Thr |
M0008052 |
LJLNLEBP_00005 |
4781 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
521C>T |
Thr174Met |
M0008053 |
LJLNLEBP_00005 |
4799 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
539T>C |
Leu180Ser |
M0008054 |
LJLNLEBP_00006 |
4904 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Arg21Arg |
M0008055 |
LJLNLEBP_00006 |
4934 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Asp31Asp |
M0008056 |
LJLNLEBP_00007 |
5106 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Asn7Asp |
M0008057 |
LJLNLEBP_00007 |
5175 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Ala30Thr |
M0008058 |
LJLNLEBP_00007 |
5178 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
91G>A |
Val31Ile |
M0008059 |
LJLNLEBP_00007 |
5191 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
104A>G |
Asn35Ser |
M0008060 |
LJLNLEBP_00002 |
5245 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3341C>A |
None |
M0008061 |
LJLNLEBP_00002 |
5252 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3348T>C |
None |
M0008062 |
LJLNLEBP_00002 |
5257 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3353C>T |
None |
M0008063 |
LJLNLEBP_00002 |
5261 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3357G>A |
None |
M0008064 |
LJLNLEBP_00002 |
5308 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3404G>T |
None |
M0008065 |
LJLNLEBP_00002 |
5332 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3428A>G |
None |
M0008066 |
LJLNLEBP_00002 |
5336 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3432G>T |
None |
M0008067 |
LJLNLEBP_00002 |
5358 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3454C>T |
None |
M0008068 |
LJLNLEBP_00002 |
5410 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3506G>A |
None |
M0008069 |
LJLNLEBP_00002 |
5420 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3516C>T |
None |
M0008070 |
LJLNLEBP_00002 |
5508 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3604C>T |
None |
M0008071 |
LJLNLEBP_00002 |
5590 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3686G>A |
None |
M0008072 |
LJLNLEBP_00002 |
5595 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3691C>T |
None |
M0008073 |
LJLNLEBP_00002 |
5624 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3720G>A |
None |
M0008074 |
LJLNLEBP_00008 |
5636 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
5A>C |
Asn2Thr |
M0008075 |
LJLNLEBP_00008 |
5637 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Asn2Asn |
M0008076 |
LJLNLEBP_00008 |
5650 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Asn7Asp |
M0008077 |
LJLNLEBP_00008 |
5705 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
74T>A |
Ile25Asn |
M0008078 |
LJLNLEBP_00008 |
5709 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Gln26Gln |
M0008079 |
LJLNLEBP_00008 |
5718 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Val29Val |
M0008080 |
LJLNLEBP_00008 |
5751 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Gly40Gly |
M0008081 |
LJLNLEBP_00008 |
5780 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
149C>T |
Ala50Val |
M0008082 |
LJLNLEBP_00008 |
5784 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Ser51Ser |
M0008083 |
LJLNLEBP_00008 |
5798 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
167T>C |
Leu56Pro |
M0008084 |
LJLNLEBP_00008 |
5810 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
179C>T |
Thr60Ile |
M0008085 |
LJLNLEBP_00008 |
5818 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
187T>C |
Leu63Leu |
M0008086 |
LJLNLEBP_00008 |
5835 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Glu68Glu |
M0008087 |
LJLNLEBP_00008 |
5841 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Glu70Glu |
M0008088 |
LJLNLEBP_00008 |
5845 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
214A>C |
Ser72Arg |
M0008089 |
LJLNLEBP_00008 |
5890 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
259T>C |
Leu87Leu |
M0008090 |
LJLNLEBP_00008 |
5911 |
4 |
Skin |
0.02 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
280T>C |
Ter94Glnext*? |
M0008091 |
LJLNLEBP_00002 |
5962 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4058G>A |
None |
M0008092 |
LJLNLEBP_00002 |
5972 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4068G>A |
None |
M0008093 |
LJLNLEBP_00002 |
6010 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4106C>T |
None |
M0008094 |
LJLNLEBP_00002 |
6028 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4124T>C |
None |
M0008095 |
LJLNLEBP_00002 |
6043 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4139G>A |
None |
M0008096 |
LJLNLEBP_00002 |
6070 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4166G>A |
None |
M0008097 |
LJLNLEBP_00002 |
6097 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4193T>C |
None |
M0008098 |
LJLNLEBP_00002 |
6134 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4230T>C |
None |
M0008099 |
LJLNLEBP_00002 |
6146 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4242C>T |
None |
M0008100 |
LJLNLEBP_00002 |
6179 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4275C>A |
None |
M0008101 |
LJLNLEBP_00002 |
6188 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4284C>T |
None |
M0008102 |
LJLNLEBP_00009 |
6248 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
113T>C |
Phe38Ser |
M0008103 |
LJLNLEBP_00009 |
6283 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Lys26Lys |
M0008104 |
LJLNLEBP_00009 |
6335 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
26A>G |
Glu9Gly |
M0008105 |
LJLNLEBP_00009 |
6347 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
14C>T |
Pro5Leu |
M0008106 |
LJLNLEBP_00009 |
6350 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
11C>T |
Thr4Ile |
M0008107 |
LJLNLEBP_00002 |
6363 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4459A>G |
None |
M0008108 |
LJLNLEBP_00002 |
6398 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4494G>A |
None |
M0008109 |
LJLNLEBP_00002 |
6461 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4557A>G |
None |
M0008110 |
LJLNLEBP_00002 |
6511 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4607T>C |
None |
M0008111 |
LJLNLEBP_00002 |
6512 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4608T>G |
None |
M0008112 |
LJLNLEBP_00002 |
6520 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4616C>T |
None |
M0008113 |
LJLNLEBP_00002 |
6612 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4708A>G |
None |
M0008114 |
LJLNLEBP_00002 |
6617 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4713T>C |
None |
M0008115 |
LJLNLEBP_00002 |
6621 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4717A>G |
None |
M0008116 |
LJLNLEBP_00002 |
6683 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4779G>A |
None |
M0008117 |
LJLNLEBP_00002 |
6709 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4805T>C |
None |
M0008118 |
LJLNLEBP_00002 |
6746 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4842T>C |
None |
M0008119 |
LJLNLEBP_00002 |
6832 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4928A>G |
None |
M0008120 |
LJLNLEBP_00009 |
7005 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-645A>G |
None |
M0008121 |
LJLNLEBP_00009 |
7057 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-697A>C |
None |
M0008122 |
LJLNLEBP_00010 |
7079 |
5 |
Skin |
0.03 |
protein_coding |
start_lost |
HIGH |
2T>C |
Met1? |
M0008123 |
LJLNLEBP_00010 |
7246 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Thr57Ala |
M0008124 |
LJLNLEBP_00010 |
7263 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
186T>C |
Thr62Thr |
M0008125 |
LJLNLEBP_00010 |
7280 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
203A>G |
Asn68Ser |
M0008126 |
LJLNLEBP_00010 |
7281 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Asn68Asn |
M0008127 |
LJLNLEBP_00010 |
7350 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
273G>C |
Lys91Asn |
M0008128 |
LJLNLEBP_00010 |
7352 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
275C>T |
Ala92Val |
M0008129 |
LJLNLEBP_00011 |
7386 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
34A>G |
Ser12Gly |
M0008130 |
LJLNLEBP_00011 |
7406 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
54A>G |
Glu18Glu |
M0008131 |
LJLNLEBP_00011 |
7476 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
124G>T |
Val42Phe |
M0008132 |
LJLNLEBP_00011 |
7481 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Ala43Ala |
M0008133 |
LJLNLEBP_00011 |
7563 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
211C>T |
Pro71Ser |
M0008134 |
LJLNLEBP_00009 |
7635 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1275G>A |
None |
M0008135 |
LJLNLEBP_00009 |
7669 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1309A>G |
None |
M0008136 |
LJLNLEBP_00009 |
7670 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1310G>T |
None |
M0008137 |
LJLNLEBP_00009 |
7680 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1320A>C |
None |
M0008138 |
LJLNLEBP_00012 |
7728 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250C>T |
Pro84Ser |
M0008139 |
LJLNLEBP_00012 |
7788 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Met64Val |
M0008140 |
LJLNLEBP_00012 |
7818 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
160G>T |
Ala54Ser |
M0008141 |
LJLNLEBP_00015 |
9498 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
307C>T |
Arg103Cys |
M0008142 |
LJLNLEBP_00015 |
9503 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
312C>G |
Leu104Leu |
M0008143 |
LJLNLEBP_00015 |
9562 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
371G>A |
Gly124Glu |
M0008144 |
LJLNLEBP_00015 |
9641 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
450A>T |
Arg150Arg |
M0008145 |
LJLNLEBP_00015 |
9659 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Pro156Pro |
M0008146 |
LJLNLEBP_00015 |
9747 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
556G>A |
Gly186Ser |
M0008147 |
LJLNLEBP_00015 |
9786 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
595C>T |
Leu199Phe |
M0008148 |
LJLNLEBP_00015 |
9802 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
611C>T |
Ala204Val |
M0008149 |
LJLNLEBP_00015 |
9805 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
614C>T |
Ser205Phe |
M0008150 |
LJLNLEBP_00015 |
9855 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
664T>C |
Ser222Pro |
M0008151 |
LJLNLEBP_00015 |
9871 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
680C>A |
Thr227Asn |
M0008152 |
LJLNLEBP_00015 |
9941 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Thr250Thr |
M0008153 |
LJLNLEBP_00015 |
9980 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Ser263Ser |
M0008154 |
LJLNLEBP_00015 |
10000 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
809T>C |
Met270Thr |
M0008155 |
LJLNLEBP_00015 |
10008 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
817G>A |
Glu273Lys |
M0008156 |
LJLNLEBP_00015 |
10019 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
828A>C |
Pro276Pro |
M0008157 |
LJLNLEBP_00015 |
10048 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
857G>A |
Gly286Asp |
M0008158 |
LJLNLEBP_00015 |
10060 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
869C>T |
Pro290Leu |
M0008159 |
LJLNLEBP_00015 |
10099 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
908C>T |
Pro303Leu |
M0008160 |
LJLNLEBP_00015 |
10114 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
923T>C |
Ile308Thr |
M0008161 |
LJLNLEBP_00015 |
10146 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
955A>G |
Thr319Ala |
M0008162 |
LJLNLEBP_00015 |
10158 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
967C>T |
Leu323Leu |
M0008163 |
LJLNLEBP_00015 |
10162 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
971G>A |
Arg324Lys |
M0008164 |
LJLNLEBP_00015 |
10219 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1028G>A |
Arg343His |
M0008165 |
LJLNLEBP_00015 |
10364 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1173C>T |
Arg391Arg |
M0008166 |
LJLNLEBP_00016 |
10494 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
197A>C |
Asn66Thr |
M0008167 |
LJLNLEBP_00016 |
10505 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Arg62Arg |
M0008168 |
LJLNLEBP_00016 |
10549 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
142A>G |
Thr48Ala |
M0008169 |
LJLNLEBP_00016 |
10641 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
50C>T |
Ser17Phe |
M0008170 |
LJLNLEBP_00016 |
10648 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
43G>A |
Val15Met |
M0008171 |
LJLNLEBP_00016 |
10674 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
17A>G |
His6Arg |
M0008172 |
LJLNLEBP_00017 |
10781 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1030A>G |
Asn344Asp |
M0008173 |
LJLNLEBP_00017 |
10882 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
929G>A |
Cys310Tyr |
M0008174 |
LJLNLEBP_00017 |
11004 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
807C>T |
Gly269Gly |
M0008175 |
LJLNLEBP_00017 |
11062 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
749A>G |
Glu250Gly |
M0008176 |
LJLNLEBP_00017 |
11148 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
663C>A |
Phe221Leu |
M0008177 |
LJLNLEBP_00017 |
11345 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
466T>C |
Tyr156His |
M0008178 |
LJLNLEBP_00017 |
11463 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Ser116Ser |
M0008179 |
LJLNLEBP_00017 |
11489 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
322T>A |
Phe108Ile |
M0008180 |
LJLNLEBP_00017 |
11523 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
288C>G |
Asp96Glu |
M0008181 |
LJLNLEBP_00017 |
11528 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
283G>A |
Ala95Thr |
M0008182 |
LJLNLEBP_00017 |
11613 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Ala66Ala |
M0008183 |
LJLNLEBP_00017 |
11654 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Asp53Asn |
M0008184 |
LJLNLEBP_00017 |
11689 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
122C>T |
Ser41Leu |
M0008185 |
LJLNLEBP_00012 |
11833 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3856A>C |
None |
M0008186 |
LJLNLEBP_00012 |
11875 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3898C>A |
None |
M0008187 |
LJLNLEBP_00012 |
11883 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3906T>C |
None |
M0008188 |
LJLNLEBP_00012 |
11884 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3907T>A |
None |
M0008189 |
LJLNLEBP_00012 |
11888 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3911A>T |
None |
M0008190 |
LJLNLEBP_00012 |
11889 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3912G>A |
None |
M0008191 |
LJLNLEBP_00012 |
11890 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3913T>C |
None |
M0008192 |
LJLNLEBP_00012 |
11893 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3916T>C |
None |
M0008193 |
LJLNLEBP_00012 |
11896 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3919C>T |
None |
M0008194 |
LJLNLEBP_00012 |
12066 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4089T>C |
None |
M0008195 |
LJLNLEBP_00018 |
12081 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
332T>C |
Val111Ala |
M0008196 |
LJLNLEBP_00002 |
1175 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
730C>T |
Pro244Ser |
M0008197 |
LJLNLEBP_00002 |
1200 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Ser235Ser |
M0008198 |
LJLNLEBP_00002 |
1514 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
391G>A |
Val131Met |
M0008199 |
LJLNLEBP_00002 |
1557 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Tyr116Tyr |
M0008200 |
LJLNLEBP_00002 |
2139 |
9 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-235G>A |
None |
M0008201 |
LJLNLEBP_00002 |
2149 |
9 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-245T>C |
None |
M0008202 |
LJLNLEBP_00003 |
2595 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Asp126Asp |
M0008203 |
LJLNLEBP_00003 |
2892 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Cys225Cys |
M0008204 |
LJLNLEBP_00003 |
2920 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
703T>G |
Leu235Val |
M0008205 |
LJLNLEBP_00003 |
3104 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
887T>C |
Met296Thr |
M0008206 |
LJLNLEBP_00003 |
3138 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
921G>C |
Leu307Leu |
M0008207 |
LJLNLEBP_00003 |
3154 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
937A>G |
Ile313Val |
M0008208 |
LJLNLEBP_00004 |
3586 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Pro16Pro |
M0008209 |
LJLNLEBP_00004 |
3590 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
52C>G |
Gln18Glu |
M0008210 |
LJLNLEBP_00004 |
3592 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
54G>T |
Gln18His |
M0008211 |
LJLNLEBP_00004 |
3593 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
55A>G |
Ile19Val |
M0008212 |
LJLNLEBP_00004 |
3604 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Pro22Pro |
M0008213 |
LJLNLEBP_00004 |
3616 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Thr26Thr |
M0008214 |
LJLNLEBP_00004 |
3631 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Ala31Ala |
M0008215 |
LJLNLEBP_00004 |
3877 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Tyr113Tyr |
M0008216 |
LJLNLEBP_00004 |
3930 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
392A>G |
Glu131Gly |
M0008217 |
LJLNLEBP_00004 |
3934 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
396T>G |
Leu132Leu |
M0008218 |
LJLNLEBP_00008 |
5731 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Lys34Glu |
M0008219 |
LJLNLEBP_00002 |
6627 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4723C>T |
None |
M0008220 |
LJLNLEBP_00003 |
3349 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1132T>C |
Leu378Leu |
M0008221 |
LJLNLEBP_00018 |
12251 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Ala54Ala |
M0008222 |
LJLNLEBP_00018 |
12310 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Thr35Ala |
M0008223 |
LJLNLEBP_00018 |
12350 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Leu21Leu |
M0008224 |
LJLNLEBP_00018 |
12386 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
27C>T |
Cys9Cys |
M0008225 |
LJLNLEBP_00018 |
12404 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
9G>A |
Val3Val |
M0008226 |
LJLNLEBP_00019 |
12523 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
His277His |
M0008227 |
LJLNLEBP_00019 |
12538 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Cys272Cys |
M0008228 |
LJLNLEBP_00019 |
12568 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Ala262Ala |
M0008229 |
LJLNLEBP_00019 |
12796 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Ala186Ala |
M0008230 |
LJLNLEBP_00019 |
12817 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
537A>G |
Ser179Ser |
M0008231 |
LJLNLEBP_00019 |
12846 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
508C>T |
Arg170Cys |
M0008232 |
LJLNLEBP_00019 |
12859 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495A>C |
Val165Val |
M0008233 |
LJLNLEBP_00019 |
12994 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
360G>C |
Leu120Leu |
M0008234 |
LJLNLEBP_00019 |
13036 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
318G>C |
Leu106Leu |
M0008235 |
LJLNLEBP_00019 |
13272 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
82A>G |
Ile28Val |
M0008236 |
LJLNLEBP_00020 |
13726 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Ser99Ser |
M0008237 |
LJLNLEBP_00020 |
13758 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Asn89Asp |
M0008238 |
LJLNLEBP_00020 |
13770 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
253A>G |
Ser85Gly |
M0008239 |
LJLNLEBP_00020 |
13798 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Glu75Glu |
M0008240 |
LJLNLEBP_00020 |
13801 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Asn74Asn |
M0008241 |
LJLNLEBP_00020 |
13819 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Pro68Pro |
M0008242 |
LJLNLEBP_00001 |
198 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Ile33Ile |
M0008243 |
LJLNLEBP_00001 |
204 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
105C>G |
Thr35Thr |
M0008244 |
LJLNLEBP_00001 |
330 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Ile77Ile |
M0008245 |
LJLNLEBP_00001 |
425 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
326G>A |
Gly109Asp |
M0008246 |
LJLNLEBP_00001 |
705 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Pro202Pro |
M0008247 |
LJLNLEBP_00002 |
1149 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
756C>A |
Ile252Ile |
M0008248 |
LJLNLEBP_00002 |
1172 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
733T>C |
Ser245Pro |
M0008249 |
LJLNLEBP_00002 |
1180 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
725G>A |
Ser242Asn |
M0008250 |
LJLNLEBP_00002 |
1359 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Gln182Gln |
M0008251 |
LJLNLEBP_00002 |
1682 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
223T>A |
Ser75Thr |
M0008252 |
LJLNLEBP_00002 |
1733 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
172T>C |
Ser58Pro |
M0008253 |
LJLNLEBP_00003 |
3237 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1020G>A |
Pro340Pro |
M0008254 |
LJLNLEBP_00003 |
3450 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1233C>T |
Gly411Gly |
M0008255 |
LJLNLEBP_00003 |
3456 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1239T>C |
Ile413Ile |
M0008256 |
LJLNLEBP_00002 |
3537 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1633T>C |
None |
M0008257 |
LJLNLEBP_00004 |
3709 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
171T>G |
Ala57Ala |
M0008258 |
LJLNLEBP_00004 |
3733 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Asn65Asn |
M0008259 |
LJLNLEBP_00004 |
3751 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
213G>A |
Arg71Arg |
M0008260 |
LJLNLEBP_00004 |
3834 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
296T>C |
Val99Ala |
M0008261 |
LJLNLEBP_00004 |
4022 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
484C>T |
Leu162Leu |
M0008262 |
LJLNLEBP_00004 |
4030 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
492G>A |
Ala164Ala |
M0008263 |
LJLNLEBP_00004 |
4056 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
518T>C |
Val173Ala |
M0008264 |
LJLNLEBP_00004 |
4075 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
His179His |
M0008265 |
LJLNLEBP_00004 |
4081 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Asn181Asn |
M0008266 |
LJLNLEBP_00004 |
4117 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Cys193Cys |
M0008267 |
LJLNLEBP_00010 |
7216 |
3 |
Skin |
0.02 |
protein_coding |
stop_gained |
HIGH |
139C>T |
Arg47* |
M0008268 |
LJLNLEBP_00025 |
19087 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1840C>T |
Arg614Cys |
M0008269 |
LJLNLEBP_00020 |
13923 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
100C>T |
Pro34Ser |
M0008270 |
LJLNLEBP_00002 |
6629 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4725C>T |
None |
M0008271 |
LJLNLEBP_00002 |
5419 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3515G>A |
None |
M0008272 |
LJLNLEBP_00011 |
7453 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
101C>T |
Ala34Val |
M0008273 |
LJLNLEBP_00004 |
4174 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Pro212Pro |
M0008274 |
LJLNLEBP_00004 |
4256 |
3 |
Skin |
0.02 |
protein_coding |
stop_gained |
HIGH |
718C>T |
Gln240* |
M0008275 |
LJLNLEBP_00005 |
4308 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
48G>A |
Thr16Thr |
M0008276 |
LJLNLEBP_00015 |
9682 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
491C>T |
Pro164Leu |
M0008277 |
LJLNLEBP_00025 |
20762 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Leu55Leu |
M0008278 |
LJLNLEBP_00019 |
12513 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
841A>G |
Asn281Asp |
M0008279 |
LJLNLEBP_00019 |
12594 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
760A>G |
Ile254Val |
M0008280 |
LJLNLEBP_00015 |
10346 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1155T>C |
Pro385Pro |
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 |
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 |