Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3097 |
Reference Plasmid |
MET0136_bin.1__k81_5626 |
Reference Plasmid Size |
17052 |
Reference Plasmid GC Content |
0.27 |
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 |
M0074658 |
HGMCELJO_00008 |
8043 |
11 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3628T>C |
None |
M0074659 |
HGMCELJO_00013 |
8328 |
48 |
Skin |
0.91 |
protein_coding |
missense_variant |
MODERATE |
877A>C |
Ile293Leu |
M0074660 |
HGMCELJO_00013 |
8713 |
17 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Phe164Phe |
M0074661 |
HGMCELJO_00013 |
8725 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
480A>T |
Ala160Ala |
M0074662 |
HGMCELJO_00013 |
8755 |
9 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
450A>G |
Lys150Lys |
M0074663 |
HGMCELJO_00012 |
9482 |
49 |
Skin |
0.92 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2585C>T |
None |
M0074664 |
HGMCELJO_00012 |
10515 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3618A>G |
None |
M0074665 |
HGMCELJO_00004 |
7011 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4512G>A |
None |
M0074666 |
HGMCELJO_00004 |
7067 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4568C>A |
None |
M0074667 |
HGMCELJO_00004 |
7072 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4573C>T |
None |
M0074668 |
HGMCELJO_00004 |
7077 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4578A>G |
None |
M0074669 |
HGMCELJO_00004 |
7096 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4597A>T |
None |
M0074670 |
HGMCELJO_00004 |
7106 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4607G>A |
None |
M0074671 |
HGMCELJO_00004 |
7113 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4614A>G |
None |
M0074672 |
HGMCELJO_00004 |
7136 |
11 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4637T>G |
None |
M0074673 |
HGMCELJO_00004 |
7138 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4639A>C |
None |
M0074674 |
HGMCELJO_00004 |
7150 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4651T>C |
None |
M0074675 |
HGMCELJO_00004 |
7185 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4686C>T |
None |
M0074676 |
HGMCELJO_00004 |
7238 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4739A>T |
None |
M0074677 |
HGMCELJO_00004 |
7243 |
11 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4744G>A |
None |
M0074678 |
HGMCELJO_00004 |
7265 |
11 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4766G>A |
None |
M0074679 |
HGMCELJO_00004 |
7315 |
13 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4816A>G |
None |
M0074680 |
HGMCELJO_00004 |
7396 |
8 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4897T>C |
None |
M0074681 |
HGMCELJO_00004 |
7398 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4899T>G |
None |
M0074682 |
HGMCELJO_00004 |
7418 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4919G>T |
None |
M0074683 |
HGMCELJO_00004 |
7429 |
8 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4930T>C |
None |
M0074684 |
HGMCELJO_00004 |
7437 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4938C>T |
None |
M0074685 |
HGMCELJO_00004 |
7440 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4941C>A |
None |
M0074686 |
HGMCELJO_00004 |
7476 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4977A>T |
None |
M0074687 |
HGMCELJO_00008 |
7509 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3094G>A |
None |
M0074688 |
HGMCELJO_00008 |
7518 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3103T>C |
None |
M0074689 |
HGMCELJO_00008 |
7551 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3136T>G |
None |
M0074690 |
HGMCELJO_00008 |
7589 |
11 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3174A>G |
None |
M0074691 |
HGMCELJO_00008 |
7602 |
10 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3187A>G |
None |
M0074692 |
HGMCELJO_00008 |
7646 |
12 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3231G>A |
None |
M0074693 |
HGMCELJO_00008 |
7647 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3232A>G |
None |
M0074694 |
HGMCELJO_00008 |
7649 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3234G>T |
None |
M0074695 |
HGMCELJO_00008 |
7658 |
12 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3243A>T |
None |
M0074696 |
HGMCELJO_00008 |
7681 |
8 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3266G>A |
None |
M0074697 |
HGMCELJO_00008 |
7687 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3272G>A |
None |
M0074698 |
HGMCELJO_00013 |
8449 |
10 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
756T>G |
Thr252Thr |
M0074699 |
HGMCELJO_00013 |
8974 |
14 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Pro77Pro |
M0074700 |
HGMCELJO_00013 |
9061 |
18 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
144C>A |
Leu48Leu |
M0074701 |
HGMCELJO_00013 |
9070 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Ser45Ser |
M0074702 |
HGMCELJO_00013 |
9088 |
21 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Phe39Phe |
M0074703 |
HGMCELJO_00008 |
9226 |
18 |
Skin |
0.34 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4811C>T |
None |
M0074704 |
HGMCELJO_00008 |
9261 |
23 |
Skin |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4846G>A |
None |
M0074705 |
HGMCELJO_00008 |
9334 |
12 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4919G>A |
None |
M0074706 |
HGMCELJO_00008 |
9348 |
18 |
Skin |
0.34 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4933T>A |
None |
M0074707 |
HGMCELJO_00008 |
9364 |
26 |
Skin |
0.49 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4949G>A |
None |
M0074708 |
HGMCELJO_00008 |
9388 |
26 |
Skin |
0.49 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4973T>C |
None |
M0074709 |
HGMCELJO_00012 |
9464 |
14 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2567A>T |
None |
M0074710 |
HGMCELJO_00012 |
9466 |
12 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2569C>A |
None |
M0074711 |
HGMCELJO_00012 |
9489 |
8 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2592C>T |
None |
M0074712 |
HGMCELJO_00014 |
9496 |
8 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
6G>T |
Lys2Asn |
M0074713 |
HGMCELJO_00014 |
9514 |
8 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Ser8Ser |
M0074714 |
HGMCELJO_00014 |
9610 |
22 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Ser40Ser |
M0074715 |
HGMCELJO_00014 |
9665 |
32 |
Skin |
0.60 |
protein_coding |
missense_variant |
MODERATE |
175A>G |
Asn59Asp |
M0074716 |
HGMCELJO_00014 |
9757 |
8 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
267A>C |
Ile89Ile |
M0074717 |
HGMCELJO_00014 |
9797 |
14 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
307C>T |
Leu103Leu |
M0074718 |
HGMCELJO_00014 |
9835 |
13 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Ile115Ile |
M0074719 |
HGMCELJO_00014 |
9859 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Pro123Pro |
M0074720 |
HGMCELJO_00014 |
9862 |
14 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
372T>G |
Ile124Met |
M0074721 |
HGMCELJO_00014 |
9877 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
387G>T |
Pro129Pro |
M0074722 |
HGMCELJO_00014 |
9887 |
13 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Asp133Asn |
M0074723 |
HGMCELJO_00014 |
9922 |
14 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Phe144Phe |
M0074724 |
HGMCELJO_00014 |
9991 |
13 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
501A>T |
Lys167Asn |
M0074725 |
HGMCELJO_00012 |
9996 |
13 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3099G>A |
None |
M0074726 |
HGMCELJO_00012 |
10004 |
13 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3107T>G |
None |
M0074727 |
HGMCELJO_00012 |
10013 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3116G>A |
None |
M0074728 |
HGMCELJO_00012 |
10048 |
12 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3151T>A |
None |
M0074729 |
HGMCELJO_00012 |
10082 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3185T>A |
None |
M0074730 |
HGMCELJO_00012 |
10099 |
13 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3202A>G |
None |
M0074731 |
HGMCELJO_00012 |
10105 |
14 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3208A>G |
None |
M0074732 |
HGMCELJO_00012 |
10119 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3222G>A |
None |
M0074733 |
HGMCELJO_00012 |
10121 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3224G>C |
None |
M0074734 |
HGMCELJO_00012 |
10135 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3238T>A |
None |
M0074735 |
HGMCELJO_00012 |
10150 |
14 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3253A>G |
None |
M0074736 |
HGMCELJO_00012 |
10152 |
18 |
Skin |
0.34 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3255G>A |
None |
M0074737 |
HGMCELJO_00008 |
8027 |
10 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3612T>A |
None |
M0074738 |
HGMCELJO_00008 |
8033 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3618A>T |
None |
M0074739 |
HGMCELJO_00008 |
8044 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3629C>T |
None |
M0074740 |
HGMCELJO_00008 |
8065 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3650G>C |
None |
M0074741 |
HGMCELJO_00008 |
8097 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3682C>A |
None |
M0074742 |
HGMCELJO_00008 |
8099 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3684C>T |
None |
M0074743 |
HGMCELJO_00008 |
8120 |
9 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3705A>T |
None |
M0074744 |
HGMCELJO_00008 |
8122 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3707T>C |
None |
M0074745 |
HGMCELJO_00008 |
8135 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3720T>A |
None |
M0074746 |
HGMCELJO_00008 |
8191 |
16 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3776A>G |
None |
M0074747 |
HGMCELJO_00008 |
8216 |
14 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3801A>G |
None |
M0074748 |
HGMCELJO_00008 |
8240 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3825T>A |
None |
M0074749 |
HGMCELJO_00008 |
8245 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3830T>G |
None |
M0074750 |
HGMCELJO_00008 |
8249 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3834A>T |
None |
M0074751 |
HGMCELJO_00008 |
8258 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3843A>G |
None |
M0074752 |
HGMCELJO_00013 |
8287 |
8 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
918G>T |
Glu306Asp |
M0074753 |
HGMCELJO_00012 |
9448 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2551T>G |
None |
M0074754 |
HGMCELJO_00012 |
10200 |
14 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3303A>G |
None |
M0074755 |
HGMCELJO_00012 |
10214 |
10 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3317T>G |
None |
M0074756 |
HGMCELJO_00012 |
10266 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3369A>T |
None |
M0074757 |
HGMCELJO_00012 |
10272 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3375T>C |
None |
M0074758 |
HGMCELJO_00012 |
10286 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3389G>A |
None |
M0074759 |
HGMCELJO_00012 |
10291 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3394C>A |
None |
M0074760 |
HGMCELJO_00012 |
10300 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3403T>G |
None |
M0074761 |
HGMCELJO_00012 |
10338 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3441T>C |
None |
M0074762 |
HGMCELJO_00012 |
10360 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3463C>T |
None |
M0074763 |
HGMCELJO_00012 |
10361 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3464G>A |
None |
M0074764 |
HGMCELJO_00012 |
6814 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Val28Val |
M0074765 |
HGMCELJO_00012 |
11423 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4526G>T |
None |
M0074766 |
HGMCELJO_00017 |
12221 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
223G>T |
Ala75Ser |
M0074767 |
HGMCELJO_00017 |
12233 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
211T>C |
Leu71Leu |
M0074768 |
HGMCELJO_00002 |
3414 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1560T>A |
None |
M0074769 |
HGMCELJO_00002 |
3508 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1654T>A |
None |
M0074770 |
HGMCELJO_00007 |
3949 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
382T>C |
Phe128Leu |
M0074771 |
HGMCELJO_00002 |
4510 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2656A>G |
None |
M0074772 |
HGMCELJO_00002 |
4524 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2670G>A |
None |
M0074773 |
HGMCELJO_00009 |
4705 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
7G>A |
Asp3Asn |
M0074774 |
HGMCELJO_00009 |
5064 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
366A>T |
Gln122His |
M0074775 |
HGMCELJO_00009 |
5265 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Asn189Asn |
M0074776 |
HGMCELJO_00002 |
6433 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4579T>G |
None |
M0074777 |
HGMCELJO_00002 |
6478 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4624G>T |
None |
M0074778 |
HGMCELJO_00012 |
6787 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Gly37Gly |
M0074779 |
HGMCELJO_00012 |
6856 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42T>G |
Gly14Gly |
M0074780 |
HGMCELJO_00004 |
7076 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4577A>G |
None |
M0074781 |
HGMCELJO_00004 |
7092 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4593G>T |
None |
M0074782 |
HGMCELJO_00004 |
7155 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4656A>G |
None |
M0074783 |
HGMCELJO_00004 |
7487 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4988A>T |
None |
M0074784 |
HGMCELJO_00008 |
7528 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3113A>G |
None |
M0074785 |
HGMCELJO_00008 |
7972 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3557A>G |
None |
M0074786 |
HGMCELJO_00008 |
8024 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3609A>C |
None |
M0074787 |
HGMCELJO_00008 |
8046 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3631T>C |
None |
M0074788 |
HGMCELJO_00008 |
8148 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3733A>G |
None |
M0074789 |
HGMCELJO_00013 |
8794 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ala137Ala |
M0074790 |
HGMCELJO_00013 |
9021 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
184C>T |
Leu62Leu |
M0074791 |
HGMCELJO_00013 |
9073 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
132G>C |
Val44Val |
M0074792 |
HGMCELJO_00008 |
9224 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4809T>G |
None |
M0074793 |
HGMCELJO_00008 |
9266 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4851A>G |
None |
M0074794 |
HGMCELJO_00014 |
9625 |
9 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Asn45Asn |
M0074795 |
HGMCELJO_00014 |
9747 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
257C>T |
Ala86Val |
M0074796 |
HGMCELJO_00014 |
9976 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Asn162Asn |
M0074797 |
HGMCELJO_00012 |
10063 |
10 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3166C>A |
None |
M0074798 |
HGMCELJO_00002 |
6495 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4641C>A |
None |
M0074799 |
HGMCELJO_00008 |
8136 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3721G>A |
None |
M0074800 |
HGMCELJO_00012 |
10565 |
16 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3668A>G |
None |
M0074801 |
HGMCELJO_00008 |
9205 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4790C>T |
None |
M0074802 |
HGMCELJO_00008 |
9308 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4893A>G |
None |
M0074803 |
HGMCELJO_00008 |
9353 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4938C>A |
None |
M0074804 |
HGMCELJO_00014 |
9983 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
493T>C |
Leu165Leu |
M0074805 |
HGMCELJO_00012 |
10003 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3106T>C |
None |
M0074806 |
HGMCELJO_00012 |
10058 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3161G>A |
None |
M0074807 |
HGMCELJO_00012 |
10763 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3866T>C |
None |
M0074808 |
HGMCELJO_00015 |
11044 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
169G>A |
Val57Ile |
M0074809 |
HGMCELJO_00012 |
11163 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4266T>G |
None |
M0074810 |
HGMCELJO_00012 |
11164 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4267G>A |
None |
M0074811 |
HGMCELJO_00012 |
11175 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4278A>C |
None |
M0074812 |
HGMCELJO_00012 |
11202 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4305A>G |
None |
M0074813 |
HGMCELJO_00012 |
11436 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4539T>C |
None |
M0074814 |
HGMCELJO_00016 |
11520 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
34T>A |
Phe12Ile |
M0074815 |
HGMCELJO_00016 |
11549 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Ser21Ser |
M0074816 |
HGMCELJO_00016 |
11552 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Glu22Glu |
M0074817 |
HGMCELJO_00016 |
11624 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Glu46Glu |
M0074818 |
HGMCELJO_00016 |
11652 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
166T>A |
Leu56Met |
M0074819 |
HGMCELJO_00016 |
11654 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Leu56Leu |
M0074820 |
HGMCELJO_00016 |
11672 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Lys62Lys |
M0074821 |
HGMCELJO_00016 |
11681 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Glu65Glu |
M0074822 |
HGMCELJO_00008 |
7927 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3512T>G |
None |
M0074823 |
HGMCELJO_00008 |
7928 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3513G>A |
None |
M0074824 |
HGMCELJO_00008 |
7973 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3558C>G |
None |
M0074825 |
HGMCELJO_00008 |
8126 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3711T>A |
None |
M0074826 |
HGMCELJO_00008 |
9326 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4911A>T |
None |
M0074827 |
HGMCELJO_00008 |
9389 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4974T>C |
None |
M0074828 |
HGMCELJO_00012 |
10087 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3190G>A |
None |
M0074829 |
HGMCELJO_00012 |
10095 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3198T>C |
None |
M0074830 |
HGMCELJO_00012 |
10104 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3207A>G |
None |
M0074831 |
HGMCELJO_00012 |
10137 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3240G>A |
None |
M0074832 |
HGMCELJO_00012 |
10213 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3316A>G |
None |
M0074833 |
HGMCELJO_00001 |
604 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
109A>G |
Ser37Gly |
M0074834 |
HGMCELJO_00001 |
696 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Cys67Cys |
M0074835 |
HGMCELJO_00001 |
732 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
His79His |
M0074836 |
HGMCELJO_00001 |
882 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Phe129Phe |
M0074837 |
HGMCELJO_00002 |
1367 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
488T>A |
Met163Lys |
M0074838 |
HGMCELJO_00002 |
1432 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Thr141Thr |
M0074839 |
HGMCELJO_00002 |
1464 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
391A>T |
Asn131Tyr |
M0074840 |
HGMCELJO_00002 |
1483 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
372C>A |
His124Gln |
M0074841 |
HGMCELJO_00002 |
1544 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
311G>A |
Arg104Lys |
M0074842 |
HGMCELJO_00002 |
1711 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Asn48Asn |
M0074843 |
HGMCELJO_00002 |
1737 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
118A>G |
Thr40Ala |
M0074844 |
HGMCELJO_00002 |
1889 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-35G>A |
None |
M0074845 |
HGMCELJO_00002 |
1997 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-143T>A |
None |
M0074846 |
HGMCELJO_00002 |
2061 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-207A>C |
None |
M0074847 |
HGMCELJO_00003 |
2087 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
23A>G |
Tyr8Cys |
M0074848 |
HGMCELJO_00004 |
2392 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Asn36Asn |
M0074849 |
HGMCELJO_00004 |
2451 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
49T>C |
Leu17Leu |
M0074850 |
HGMCELJO_00002 |
2582 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-728T>C |
None |
M0074851 |
HGMCELJO_00002 |
2639 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-785C>A |
None |
M0074852 |
HGMCELJO_00005 |
2937 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
30C>T |
Asn10Asn |
M0074853 |
HGMCELJO_00005 |
3129 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Leu74Leu |
M0074854 |
HGMCELJO_00002 |
3174 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1320G>A |
None |
M0074855 |
HGMCELJO_00013 |
9103 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Phe34Phe |
M0074856 |
HGMCELJO_00008 |
9207 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4792G>A |
None |
M0074857 |
HGMCELJO_00008 |
9345 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4930G>A |
None |
M0074858 |
HGMCELJO_00014 |
9670 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
180T>A |
Ile60Ile |
M0074859 |
HGMCELJO_00012 |
11093 |
8 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4196A>G |
None |
M0074860 |
HGMCELJO_00012 |
11132 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4235C>T |
None |
M0074861 |
HGMCELJO_00012 |
11183 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4286G>A |
None |
M0074862 |
HGMCELJO_00012 |
11295 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4398G>T |
None |
M0074863 |
HGMCELJO_00016 |
11540 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
54G>T |
Glu18Asp |
M0074864 |
HGMCELJO_00013 |
8450 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
755C>A |
Thr252Asn |
M0074865 |
HGMCELJO_00014 |
9881 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
391G>A |
Ala131Thr |
M0074866 |
HGMCELJO_00012 |
10118 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3221T>A |
None |
M0074867 |
HGMCELJO_00015 |
10984 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
109T>C |
Phe37Leu |
M0074868 |
HGMCELJO_00015 |
11004 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Ser43Ser |
M0074869 |
HGMCELJO_00015 |
11034 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
159C>G |
Leu53Leu |
M0074870 |
HGMCELJO_00001 |
306 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-190C>T |
None |
M0074871 |
HGMCELJO_00001 |
314 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-182T>C |
None |
M0074872 |
HGMCELJO_00001 |
337 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-159T>G |
None |
M0074873 |
HGMCELJO_00001 |
825 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
330A>T |
Gln110His |
M0074874 |
HGMCELJO_00001 |
828 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Asn111Asn |
M0074875 |
HGMCELJO_00001 |
861 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Asn122Asn |
M0074876 |
HGMCELJO_00001 |
900 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Phe135Phe |
M0074877 |
HGMCELJO_00001 |
993 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
498T>A |
Asp166Glu |
M0074878 |
HGMCELJO_00003 |
1000 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1065G>A |
None |
M0074879 |
HGMCELJO_00003 |
1045 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1020C>G |
None |
M0074880 |
HGMCELJO_00003 |
1048 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1017T>A |
None |
M0074881 |
HGMCELJO_00003 |
1054 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1011G>A |
None |
M0074882 |
HGMCELJO_00003 |
1064 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1001C>G |
None |
M0074883 |
HGMCELJO_00003 |
1078 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-987A>G |
None |
M0074884 |
HGMCELJO_00003 |
1095 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-970T>C |
None |
M0074885 |
HGMCELJO_00003 |
1112 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-953G>T |
None |
M0074886 |
HGMCELJO_00003 |
1152 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-913A>G |
None |
M0074887 |
HGMCELJO_00003 |
1153 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-912G>T |
None |
M0074888 |
HGMCELJO_00003 |
1204 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-861G>A |
None |
M0074889 |
HGMCELJO_00003 |
1213 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-852A>G |
None |
M0074890 |
HGMCELJO_00003 |
1216 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-849A>G |
None |
M0074891 |
HGMCELJO_00003 |
1232 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-833T>C |
None |
M0074892 |
HGMCELJO_00003 |
1237 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-828A>G |
None |
M0074893 |
HGMCELJO_00003 |
1238 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-827T>C |
None |
M0074894 |
HGMCELJO_00003 |
1239 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-826T>A |
None |
M0074895 |
HGMCELJO_00002 |
1290 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
565T>A |
Leu189Ile |
M0074896 |
HGMCELJO_00002 |
1300 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
555C>A |
Ile185Ile |
M0074897 |
HGMCELJO_00002 |
1600 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Gly85Gly |
M0074898 |
HGMCELJO_00002 |
1998 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-144T>A |
None |
M0074899 |
HGMCELJO_00002 |
3527 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1673G>A |
None |
M0074900 |
HGMCELJO_00002 |
3543 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1689A>T |
None |
M0074901 |
HGMCELJO_00002 |
3544 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1690A>G |
None |
M0074902 |
HGMCELJO_00002 |
3548 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1694G>A |
None |
M0074903 |
HGMCELJO_00002 |
3560 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1706A>T |
None |
M0074904 |
HGMCELJO_00007 |
3578 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
11T>C |
Ile4Thr |
M0074905 |
HGMCELJO_00007 |
3639 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Asn24Asn |
M0074906 |
HGMCELJO_00007 |
3648 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Phe27Phe |
M0074907 |
HGMCELJO_00007 |
3651 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84T>A |
Ala28Ala |
M0074908 |
HGMCELJO_00007 |
3664 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
97C>A |
Arg33Ser |
M0074909 |
HGMCELJO_00007 |
3687 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Asp40Asp |
M0074910 |
HGMCELJO_00007 |
3694 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
127G>A |
Val43Ile |
M0074911 |
HGMCELJO_00007 |
3780 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213A>C |
Pro71Pro |
M0074912 |
HGMCELJO_00007 |
3793 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
226A>T |
Met76Leu |
M0074913 |
HGMCELJO_00007 |
3795 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
228G>A |
Met76Ile |
M0074914 |
HGMCELJO_00007 |
3886 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
319A>T |
Thr107Ser |
M0074915 |
HGMCELJO_00007 |
3963 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Ser132Ser |
M0074916 |
HGMCELJO_00007 |
4014 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
447C>G |
Gly149Gly |
M0074917 |
HGMCELJO_00007 |
4020 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Asp151Asp |
M0074918 |
HGMCELJO_00002 |
6521 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4667C>T |
None |
M0074919 |
HGMCELJO_00002 |
6530 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4676T>C |
None |
M0074920 |
HGMCELJO_00002 |
6539 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4685T>A |
None |
M0074921 |
HGMCELJO_00002 |
6542 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4688A>T |
None |
M0074922 |
HGMCELJO_00002 |
6571 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4717C>G |
None |
M0074923 |
HGMCELJO_00002 |
6576 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4722A>G |
None |
M0074924 |
HGMCELJO_00002 |
6583 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4729C>T |
None |
M0074925 |
HGMCELJO_00002 |
6604 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4750T>C |
None |
M0074926 |
HGMCELJO_00002 |
6618 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4764C>T |
None |
M0074927 |
HGMCELJO_00002 |
6621 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4767A>C |
None |
M0074928 |
HGMCELJO_00002 |
6634 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4780C>T |
None |
M0074929 |
HGMCELJO_00002 |
6680 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4826T>C |
None |
M0074930 |
HGMCELJO_00012 |
6727 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
171T>A |
Gly57Gly |
M0074931 |
HGMCELJO_00012 |
6736 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162T>A |
Gly54Gly |
M0074932 |
HGMCELJO_00012 |
6745 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Ile51Ile |
M0074933 |
HGMCELJO_00012 |
6793 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Glu35Glu |
M0074934 |
HGMCELJO_00008 |
7829 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3414A>G |
None |
M0074935 |
HGMCELJO_00009 |
5289 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Asn197Asn |
M0074936 |
HGMCELJO_00012 |
11323 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4426C>T |
None |
M0074937 |
HGMCELJO_00012 |
11363 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4466C>T |
None |
M0074938 |
HGMCELJO_00008 |
8074 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3659G>A |
None |
M0074939 |
HGMCELJO_00008 |
9288 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4873C>A |
None |
M0074940 |
HGMCELJO_00012 |
10252 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3355T>G |
None |
M0074941 |
HGMCELJO_00012 |
10253 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3356A>T |
None |
M0074942 |
HGMCELJO_00012 |
10334 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3437C>T |
None |
M0074943 |
HGMCELJO_00012 |
10389 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3492A>G |
None |
M0074944 |
HGMCELJO_00012 |
10403 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3506A>T |
None |
M0074945 |
HGMCELJO_00012 |
10430 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3533T>A |
None |
M0074946 |
HGMCELJO_00012 |
10455 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3558A>C |
None |
M0074947 |
HGMCELJO_00012 |
10465 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3568C>T |
None |
M0074948 |
HGMCELJO_00012 |
10467 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3570G>T |
None |
M0074949 |
HGMCELJO_00012 |
10475 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3578G>C |
None |
M0074950 |
HGMCELJO_00012 |
10476 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3579A>G |
None |
M0074951 |
HGMCELJO_00012 |
10570 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3673A>C |
None |
M0074952 |
HGMCELJO_00012 |
10504 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3607C>T |
None |
M0074953 |
HGMCELJO_00008 |
8017 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3602C>T |
None |
M0074954 |
HGMCELJO_00012 |
10179 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3282G>A |
None |
M0074955 |
HGMCELJO_00004 |
7046 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4547T>C |
None |
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 |
HGMCELJO_00012 |
PHI:11162 |
msaB |
78.8 |
4.8e-25 |
1 |
66 |
1.0000 |
1.0000 |
primates |
skin infection; food poisoning; respiratory disease |
cold shock protein |
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 |
HGMCELJO_00018 |
2.A.38.4.6 |
74.9 |
1.6e-180 |
18 |
452 |
0.9624 |
1.0000 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.38 |
The K+ Transporter (Trk) Family |