Q92966
PR
Gene name |
SNAPC3 (SNAP50) |
Protein name |
snRNA-activating protein complex subunit 3 |
Names |
SNAPc subunit 3, Proximal sequence element-binding transcription factor subunit beta, PSE-binding factor subunit beta, PTF subunit beta, Small nuclear RNA-activating complex polypeptide 3, snRNA-activating protein complex 50 kDa subunit, SNAPc 50 kDa subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6619 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
10 structures for Q92966
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7XUR | EM | 349 A | B | 1-411 | PDB |
| 7ZWC | EM | 320 A | b | 1-411 | PDB |
| 7ZWD | EM | 300 A | b | 1-411 | PDB |
| 7ZX7 | EM | 340 A | b | 1-411 | PDB |
| 7ZX8 | EM | 300 A | b | 1-411 | PDB |
| 7ZXE | EM | 350 A | b | 1-411 | PDB |
| 8ITY | EM | 390 A | 3 | 1-411 | PDB |
| 8IUE | EM | 410 A | 3 | 1-411 | PDB |
| 8IUH | EM | 340 A | 3 | 1-411 | PDB |
| AF-Q92966-F1 | Predicted | AlphaFoldDB |
447 variants for Q92966
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA372974716 rs901347101 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA189429189 rs901347101 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4992640 rs765512146 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA372974730 rs1180269389 |
3 | E>A | No |
ClinGen gnomAD |
|
|
rs1431780305 CA372974735 |
3 | E>D | No |
ClinGen gnomAD |
|
|
CA372974744 rs1470092999 |
4 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372974742 rs1470092999 |
4 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs758227244 CA4992642 |
4 | G>R | No |
ClinGen ExAC |
|
|
rs756332338 CA189429200 |
5 | S>N | No |
ClinGen TOPMed |
|
|
CA189429208 rs1026146892 |
5 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756332338 CA372974752 |
5 | S>T | No |
ClinGen TOPMed |
|
|
COSM1569338 CA4992643 rs777523833 |
6 | R>* | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777523833 CA189429217 |
6 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992644 rs746997280 |
6 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372974773 rs1298687708 |
7 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4992646 rs757300418 |
8 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010120659 CA189429234 |
8 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1010120659 CA372974784 |
8 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372974791 rs757300418 |
8 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345798706 CA372974795 |
9 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4992647 rs376165641 |
9 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992648 rs376165641 |
9 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372974797 rs1345798706 |
9 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769563858 CA4992649 |
10 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199853006 CA4992650 |
10 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA189429275 rs769563858 |
10 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992651 rs199853006 |
10 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769563858 CA189429276 |
10 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372974822 rs1337588476 |
11 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs11553171 CA189429322 |
11 | C>Y | No |
ClinGen Ensembl |
|
|
rs370837882 CA4992653 |
12 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4992654 rs761150557 |
12 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA189429356 rs967616976 |
13 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372974843 rs967616976 |
13 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1226945 rs1587116298 CA372974855 |
14 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4992655 rs766932417 |
14 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA372974861 rs1422718729 |
15 | G>R | No |
ClinGen gnomAD |
|
|
CA4992656 rs776689417 |
15 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs765318349 CA4992658 |
16 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369928548 CA372974877 |
16 | G>S | No |
ClinGen gnomAD |
|
|
rs752986641 CA4992659 |
17 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372974914 rs1200106550 |
19 | D>G | No |
ClinGen TOPMed |
|
|
rs1435225340 CA372974909 |
19 | D>H | No |
ClinGen gnomAD |
|
|
CA372974908 rs1435225340 |
19 | D>N | No |
ClinGen gnomAD |
|
|
CA372974922 rs1291496611 |
20 | P>A | No |
ClinGen gnomAD |
|
|
rs1288340387 CA372974939 |
21 | V>A | No |
ClinGen TOPMed |
|
|
CA372974934 rs1345982007 |
21 | V>L | No |
ClinGen TOPMed |
|
|
rs963850662 CA189429397 |
22 | S>C | No |
ClinGen gnomAD |
|
|
rs963850662 CA372974954 |
22 | S>F | No |
ClinGen gnomAD |
|
|
rs1240930117 CA372974946 |
22 | S>P | No |
ClinGen TOPMed |
|
|
CA4992662 rs763918371 |
23 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992661 rs763918371 |
23 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226863032 CA372974971 |
24 | S>G | No |
ClinGen gnomAD |
|
|
CA372974986 rs1293974335 |
25 | G>S | No |
ClinGen gnomAD |
|
|
CA4992663 rs757245561 |
26 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA4992664 rs781342143 |
26 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1242822618 CA372975007 |
27 | C>R | No |
ClinGen Ensembl |
|
|
CA4992665 rs143795003 |
27 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372975027 rs41316011 |
28 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1223634059 CA372975028 |
28 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs41316011 CA4992667 |
28 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4992666 rs41316011 |
28 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389356135 CA372975056 |
30 | P>L | No |
ClinGen gnomAD |
|
|
rs748942788 CA4992668 |
31 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs768246668 CA4992669 |
31 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372975058 rs1447530433 |
31 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372975081 rs1202709817 |
32 | Y>F | No |
ClinGen gnomAD |
|
|
CA372975087 rs1404304880 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA372975108 rs1346637304 |
34 | L>F | No |
ClinGen gnomAD |
|
|
CA189429491 rs918188140 |
35 | P>S | No |
ClinGen Ensembl |
|
|
rs1321578576 CA372975131 |
36 | E>* | No |
ClinGen gnomAD |
|
|
CA372975128 rs1321578576 |
36 | E>K | No |
ClinGen gnomAD |
|
|
CA189429508 rs985771424 |
37 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs949525998 CA189429540 |
40 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs949525998 CA372975175 |
40 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 40 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759564121 CA4992674 |
41 | A>T | No |
ClinGen ExAC |
|
|
rs1563835591 CA372975202 |
42 | F>S | No |
ClinGen Ensembl |
|
|
CA4992675 rs769949624 |
43 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763212688 CA372975224 |
44 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763212688 CA4992677 |
44 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA189429646 rs905257456 |
46 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372975234 rs905257456 |
46 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1231817162 CA372975244 |
47 | F>S | No |
ClinGen TOPMed |
|
|
CA4992679 rs751393125 |
48 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs767500874 CA4992681 |
49 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189429685 rs778414945 |
51 | W>* | No |
ClinGen TOPMed |
|
|
CA372975272 rs1160906944 |
52 | R>G | No |
ClinGen gnomAD |
|
|
CA189429709 rs564855753 |
53 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1054287996 CA372975282 |
54 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA189429713 rs1054287996 |
54 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372975286 rs1388361951 |
54 | R>L | No |
ClinGen gnomAD |
|
|
rs1054287996 CA372975283 |
54 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779597987 CA4992684 |
56 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4992686 CA4992687 rs202082183 |
57 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747317848 CA4992688 |
58 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA372975305 rs1282453548 |
58 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372975307 rs1229238490 |
59 | G>R | No |
ClinGen gnomAD |
|
|
rs980718584 CA189429789 |
60 | D>G | No |
ClinGen Ensembl |
|
|
CA189429783 rs1009999046 |
60 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 60 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA189429794 rs1020182594 |
61 | L>M | No |
ClinGen Ensembl |
|
|
CA4992689 rs556604793 |
62 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205373891 CA372975325 |
62 | S>T | No |
ClinGen gnomAD |
|
|
CA4992690 rs556604793 |
62 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA189429816 rs930128253 |
63 | L>V | No |
ClinGen TOPMed |
|
|
CA4992692 rs372657617 |
65 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008045015 CA189429836 |
65 | E>G | No |
ClinGen TOPMed |
|
|
CA4992695 rs763007995 |
66 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs548429324 CA4992694 |
66 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774724820 CA4992697 |
67 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372975392 rs1178984710 |
68 | A>P | No |
ClinGen gnomAD |
|
|
CA189429863 rs570013085 |
68 | A>V | No |
ClinGen 1000Genomes |
|
|
CA372975405 rs1320453430 |
69 | S>A | No |
ClinGen TOPMed |
|
|
CA372975401 rs1320453430 |
69 | S>T | No |
ClinGen TOPMed |
|
|
rs1218927817 CA372975418 |
70 | A>S | No |
ClinGen TOPMed |
|
|
rs761648374 CA4992698 |
72 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437964603 CA372975439 |
72 | P>S | No |
ClinGen TOPMed |
|
|
CA4992699 rs200501679 CA189429915 |
73 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372975462 rs1356342159 |
74 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1356342159 CA372975463 |
74 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372975492 rs1348812903 |
76 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1275159884 CA372975508 |
77 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372975505 rs1275159884 |
77 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372975500 rs1225602992 |
77 | A>T | No |
ClinGen gnomAD |
|
|
CA372975512 rs1344034625 |
78 | D>H | No |
ClinGen gnomAD |
|
|
rs1275107037 CA372975535 |
79 | S>C | No |
ClinGen gnomAD |
|
|
rs754460862 CA4992705 |
84 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372975598 rs754460862 |
84 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992707 rs752380082 |
85 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992708 rs752380082 |
85 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781512714 CA4992709 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4992710 rs746274132 |
87 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4992711 rs370586112 |
87 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4992713 rs749327463 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768638956 CA4992714 |
88 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992716 CA4992715 rs373734712 |
88 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372975644 rs768638956 |
88 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773141810 CA4992718 |
91 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4992717 rs772483346 |
91 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs760395619 CA4992719 |
92 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs377678857 CA189430067 |
93 | S>I | No |
ClinGen ESP gnomAD |
|
|
CA372975718 rs1220558252 |
94 | L>V | No |
ClinGen TOPMed |
|
|
rs776455493 CA4992721 |
96 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372975745 rs1490698707 |
96 | A>P | No |
ClinGen gnomAD |
|
|
CA372975743 rs1490698707 |
96 | A>T | No |
ClinGen gnomAD |
|
|
rs776455493 CA4992722 |
96 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764696889 CA4992723 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA372975768 rs1197149744 |
98 | A>S | No |
ClinGen gnomAD |
|
|
rs926777093 CA189430130 |
98 | A>V | No |
ClinGen gnomAD |
|
|
CA372975817 rs758031602 |
102 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs752251527 CA4992724 |
102 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758031602 CA4992725 |
102 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1587116944 CA372975832 |
103 | V>G | No |
ClinGen Ensembl |
|
|
rs1426685774 CA372975839 |
104 | C>Y | No |
ClinGen gnomAD |
|
|
CA372975853 rs1390344440 |
105 | G>R | No |
ClinGen gnomAD |
|
|
CA372975861 rs1385344746 |
105 | G>V | No |
ClinGen gnomAD |
|
|
rs149579165 CA372975891 |
107 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149579165 CA4992748 |
107 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs920627230 CA189431364 |
108 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 108 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156624121 CA372975913 |
110 | K>R | No |
ClinGen gnomAD |
|
|
CA4992749 rs766618214 |
111 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA189431370 rs934766216 |
111 | C>R | No |
ClinGen TOPMed |
|
|
rs766618214 CA372975919 |
111 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352957346 CA372975926 |
112 | L>H | No |
ClinGen TOPMed |
|
|
rs755540504 CA4992751 |
114 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779571097 CA4992752 |
115 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372975947 rs779571097 |
115 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574540987 CA4992753 |
117 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1435451497 CA372975959 |
117 | D>Y | No |
ClinGen TOPMed |
|
|
CA4992755 rs778016044 |
118 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747169562 CA4992756 |
118 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372975976 rs1409263901 |
120 | V>I | No |
ClinGen TOPMed |
|
|
CA372975986 rs1176958161 |
121 | I>T | No |
ClinGen TOPMed |
|
|
CA189431428 rs1048764473 |
122 | P>L | No |
ClinGen Ensembl |
|
|
CA4992758 rs780835390 |
123 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771235363 CA4992757 |
123 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286787687 CA372975994 |
123 | E>K | No |
ClinGen gnomAD |
|
|
rs1286787687 CA372975995 |
123 | E>Q | No |
ClinGen gnomAD |
|
|
rs1038971385 CA189431449 |
124 | N>S | No |
ClinGen TOPMed |
|
|
CA4992759 rs146005437 |
125 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146005437 CA372976010 |
125 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146005437 CA4992760 |
125 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762397536 CA4992763 |
126 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs368049767 CA4992762 |
126 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 128 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761347491 CA4992766 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1433612674 CA372976035 |
130 | L>V | No |
ClinGen gnomAD |
|
|
rs1278972091 CA372976130 |
131 | G>W | No |
ClinGen TOPMed |
|
|
CA189440126 rs952596540 |
132 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771570311 CA4992794 |
135 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992795 rs753204253 |
136 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4992797 rs759939568 |
137 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574435885 CA189440147 |
138 | E>G | No |
ClinGen gnomAD |
|
|
CA4992798 rs765666085 |
138 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992799 rs776047689 |
139 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189440159 rs1015383461 |
140 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4992800 rs763542697 |
140 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756310337 CA372976853 |
141 | E>D | No |
ClinGen gnomAD |
|
|
CA372976851 rs1263350446 |
141 | E>V | No |
ClinGen TOPMed |
|
|
CA4992802 rs751525535 |
144 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1310921398 CA372976875 |
145 | T>A | No |
ClinGen gnomAD |
|
|
CA372976879 rs1587210528 |
145 | T>I | No |
ClinGen Ensembl |
|
|
CA372976883 rs1209167579 |
146 | I>T | No |
ClinGen gnomAD |
|
|
CA189440191 rs961024104 |
146 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1245367365 CA372976893 |
147 | D>E | No |
ClinGen TOPMed |
|
|
CA372976887 rs1267295745 |
147 | D>Y | No |
ClinGen gnomAD |
|
|
CA4992803 rs757370718 |
148 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs981813312 CA189440209 |
152 | Q>* | No |
ClinGen Ensembl |
|
|
rs1489869628 CA372976940 |
155 | F>I | No |
ClinGen gnomAD |
|
|
CA4992807 rs542483701 |
156 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398243291 CA372976954 |
157 | Y>H | No |
ClinGen TOPMed |
|
|
CA372976970 rs1472730944 |
159 | M>V | No |
ClinGen gnomAD |
|
|
rs1232004803 CA372977598 |
160 | E>K | No |
ClinGen gnomAD |
|
|
CA372977624 rs1342344716 |
163 | A>V | No |
ClinGen gnomAD |
|
|
CA189446994 rs200537467 |
164 | I>T | No |
ClinGen Ensembl |
|
|
rs774615578 CA4992838 |
164 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762356219 CA4992839 |
165 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372977655 rs1436400254 |
168 | P>H | No |
ClinGen gnomAD |
|
|
CA372977656 rs1436400254 |
168 | P>R | No |
ClinGen gnomAD |
|
|
rs1248042994 CA372977654 |
168 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 169 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772623146 CA4992840 |
169 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372977686 rs1247681635 |
173 | D>H | No |
ClinGen gnomAD |
|
|
CA372977694 rs1383170473 |
174 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760759916 CA4992842 |
175 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372977710 rs1430539325 |
176 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201524130 CA4992843 |
176 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1168160741 CA372977720 |
177 | E>V | No |
ClinGen gnomAD |
|
|
rs1394547912 CA372977725 |
178 | G>R | No |
ClinGen gnomAD |
|
|
CA4992844 rs754125073 |
179 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4992845 rs759721239 COSM354677 |
180 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759721239 CA372977737 |
180 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189447044 rs962416763 |
182 | L>P | No |
ClinGen Ensembl |
|
|
COSM1554441 CA4992846 rs765059045 |
184 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752493529 CA4992848 |
185 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA372977774 rs1249147454 |
186 | I>T | No |
ClinGen gnomAD |
|
|
CA4992851 rs758352388 |
193 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372977821 rs1474260321 |
193 | H>R | No |
ClinGen TOPMed |
|
|
CA4992850 rs758352388 |
193 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468364010 CA372977827 |
194 | K>* | No |
ClinGen gnomAD |
|
|
CA372977831 rs1192283111 |
194 | K>N | No |
ClinGen gnomAD |
|
|
rs779575812 CA4992875 |
195 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779575812 CA372977874 |
195 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992877 rs758797566 |
196 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA372977916 rs1448239136 |
198 | H>L | No |
ClinGen TOPMed |
|
|
CA372977948 rs1403692000 |
200 | P>S | No |
ClinGen gnomAD |
|
|
rs771485954 CA4992880 |
201 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4992882 rs745941529 |
203 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4992884 rs374540261 |
204 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4992883 rs374540261 |
204 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774336394 CA4992887 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763949696 CA189448382 |
206 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763949696 CA4992886 |
206 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372978052 rs1201073757 |
208 | G>R | No |
ClinGen gnomAD |
|
|
CA372978050 rs1201073757 |
208 | G>S | No |
ClinGen gnomAD |
|
|
CA4992890 rs749878861 |
210 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992893 rs766017239 |
214 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA372978150 rs1418332259 |
215 | L>R | No |
ClinGen gnomAD |
|
|
rs1204268811 CA372978152 |
216 | R>G | No |
ClinGen TOPMed |
|
|
CA4992894 rs149028548 |
216 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372978186 rs1379253634 |
218 | S>* | No |
ClinGen gnomAD |
|
|
CA4992897 rs778098514 |
219 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs778098514 CA4992896 |
219 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4992898 COSM1107392 rs144242482 |
220 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs886743236 CA189448414 |
220 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372978214 rs1366339859 |
221 | C>R | No |
ClinGen TOPMed |
|
|
rs745909411 CA4992900 |
224 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs769794733 CA4992901 |
225 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1003824317 CA189448422 |
226 | Q>* | No |
ClinGen TOPMed |
|
|
CA4992902 rs41311434 |
227 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4992904 rs769054293 |
228 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749499015 CA4992903 |
228 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774279214 CA4992905 |
229 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761701840 CA4992906 |
232 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428319755 CA372978373 |
233 | N>S | No |
ClinGen TOPMed |
|
|
rs1269217446 CA372978387 |
234 | T>N | No |
ClinGen gnomAD |
|
|
rs773056764 CA4992908 |
236 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372978406 rs773056764 |
236 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193003118 CA372978422 |
237 | Q>P | No |
ClinGen gnomAD |
|
|
CA189448445 rs370650745 |
239 | P>T | No |
ClinGen Ensembl |
|
|
rs753147545 CA189448446 |
240 | E>D | No |
ClinGen TOPMed |
|
|
CA372978471 rs1431159036 |
241 | H>D | No |
ClinGen gnomAD |
|
|
CA372978475 rs1168807706 |
241 | H>P | No |
ClinGen gnomAD |
|
|
rs1381857362 CA372978483 |
241 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4992910 rs760708053 |
242 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4992911 rs765785599 |
242 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA372978492 rs1239603252 |
242 | I>T | No |
ClinGen gnomAD |
|
|
CA4992912 rs377697565 |
243 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4992914 rs61737935 |
243 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372978554 rs1466153744 |
248 | K>E | No |
ClinGen gnomAD |
|
|
rs1392771180 CA372978565 |
249 | S>L | No |
ClinGen TOPMed |
|
|
CA4992937 rs750854193 |
251 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373077948 CA372978575 |
251 | F>S | No |
ClinGen TOPMed |
|
|
CA372978573 rs750854193 |
251 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372978581 rs1183218937 |
252 | F>V | No |
ClinGen gnomAD |
|
|
rs756574458 CA4992938 |
254 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189450559 rs980442614 |
257 | T>I | No |
ClinGen TOPMed |
|
|
rs780710460 CA4992941 |
260 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753910525 CA4992942 COSM455700 |
262 | K>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 263 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4992943 rs755128943 |
264 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148038928 CA4992945 |
265 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4992944 rs148038928 |
265 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468115683 CA372978682 |
266 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372978694 rs1250700304 |
268 | R>G | No |
ClinGen TOPMed |
|
|
CA372978697 rs1319620651 |
268 | R>T | No |
ClinGen gnomAD |
|
|
rs1157748588 CA372978701 |
269 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372978725 rs1349466684 |
272 | R>* | No |
ClinGen TOPMed |
|
|
rs1220872961 CA372978743 |
273 | T>A | No |
ClinGen gnomAD |
|
|
CA372978745 rs1280409596 |
273 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1261503544 CA372978749 |
274 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199652997 CA4992972 |
275 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1276383456 CA372978761 |
276 | E>K | No |
ClinGen gnomAD |
|
|
CA4992974 rs768134375 |
279 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992975 rs768134375 |
279 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140869103 CA4992976 |
280 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140869103 CA372978793 |
280 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587379871 CA372978802 |
281 | H>Q | No |
ClinGen Ensembl |
|
|
rs1193496393 CA372978808 |
282 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 283 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4992978 rs777195600 |
285 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992977 rs766830567 |
285 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs760117089 CA4992979 |
286 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992981 rs369622830 |
289 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327856498 CA372978863 |
290 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372978862 rs1327856498 |
290 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1182179547 CA372978866 |
291 | A>T | No |
ClinGen gnomAD |
|
|
rs1414593790 CA372978872 |
292 | R>K | No |
ClinGen Ensembl |
|
|
CA4992984 rs751777117 |
295 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 295 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780949047 CA4992986 |
298 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992989 rs138667984 |
299 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745726291 CA4992988 |
299 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745726291 CA4992987 |
299 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436494146 CA372978940 |
301 | L>F | No |
ClinGen gnomAD |
|
|
rs1316162853 CA372978938 |
301 | L>S | No |
ClinGen TOPMed |
|
|
CA372978944 rs1216078609 |
302 | C>G | No |
ClinGen gnomAD |
|
|
rs930860162 CA189451729 |
302 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372978971 rs1191757818 |
306 | G>R | No |
ClinGen gnomAD |
|
|
rs374095519 CA4992994 |
309 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA189451742 rs146075837 |
309 | Y>N | No |
ClinGen ESP |
|
|
rs200945273 CA372979000 CA4992996 |
310 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765616120 CA372979002 |
311 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765616120 CA4992997 |
311 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4992999 rs763412909 |
312 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563853112 CA372979020 |
313 | H>R | No |
ClinGen Ensembl |
|
|
rs764209608 CA4993000 |
314 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4993002 rs138841606 |
319 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226227278 CA372979065 |
319 | H>Q | No |
ClinGen gnomAD |
|
|
COSM3669941 CA4993003 rs762014901 |
321 | I>F | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4993004 rs767727295 |
321 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs767727295 CA372979076 |
321 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762014901 CA372979074 |
321 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377748371 CA4993005 |
322 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371241908 CA4993006 |
323 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372979086 rs1468374836 |
323 | I>T | No |
ClinGen gnomAD |
|
|
CA4993008 rs779813812 |
326 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403802427 CA372979131 |
327 | R>S | No |
ClinGen gnomAD |
|
|
CA372979140 rs1219590851 |
329 | V>L | No |
ClinGen gnomAD |
|
|
CA372979139 rs1219590851 |
329 | V>M | No |
ClinGen gnomAD |
|
| rs1414999327 | 333 | D>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266099231 COSM1107396 CA372979180 |
334 | C>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA189455161 rs999370329 |
335 | L>V | No |
ClinGen Ensembl |
|
|
CA4993033 rs758016119 |
336 | D>E | No |
ClinGen ExAC |
|
|
rs1031292595 CA372979195 |
336 | D>G | No |
ClinGen gnomAD |
|
|
CA372979192 rs1158730080 |
336 | D>H | No |
ClinGen TOPMed |
|
|
CA189455165 rs1031292595 |
336 | D>V | No |
ClinGen gnomAD |
|
|
CA4993034 rs777467833 |
337 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372979208 rs1336808946 |
338 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA586269192 rs1311940195 |
339 | L>* | No |
ClinGen gnomAD |
|
|
CA4993035 rs746640657 |
339 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA189455176 rs374862513 |
340 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs766027414 CA189455184 |
342 | L>V | No |
ClinGen Ensembl |
|
|
rs1257425482 CA372979238 |
343 | L>R | No |
ClinGen TOPMed |
|
|
CA372979243 rs1484833530 |
344 | I>T | No |
ClinGen gnomAD |
|
|
CA4993037 rs200828602 |
345 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372979253 rs1448752602 |
346 | K>Q | No |
ClinGen TOPMed |
|
|
rs1262539526 CA372979265 |
347 | H>R | No |
ClinGen TOPMed |
|
|
CA189455194 rs867856354 |
352 | R>* | No |
ClinGen Ensembl |
|
|
rs1418423386 CA372979324 |
355 | F>S | No |
ClinGen gnomAD |
|
|
CA189455198 rs867044935 |
356 | V>A | No |
ClinGen Ensembl |
|
|
rs544396089 CA4993038 |
359 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372979351 rs1448649616 |
359 | M>V | No |
ClinGen gnomAD |
|
|
CA4993039 rs769145510 |
360 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434839721 CA372979369 |
361 | T>I | No |
ClinGen gnomAD |
|
|
rs1356389668 CA372979459 |
364 | W>* | No |
ClinGen TOPMed |
|
|
CA189456252 rs374429356 |
365 | V>M | No |
ClinGen ESP |
|
|
rs775487293 COSM1226946 CA4993080 |
366 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1554651236 CA4993084 |
367 | N>K | No |
ClinGen Ensembl |
|
|
CA4993083 rs576635271 |
367 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4993086 rs146354816 |
368 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4993087 rs767157986 |
368 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA372979531 rs1418306983 |
370 | S>C | No |
ClinGen gnomAD |
|
|
rs750012584 CA372979533 |
370 | S>N | No |
ClinGen ExAC TOPMed |
|
|
rs750012584 CA4993088 |
370 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA4993089 rs148554001 |
371 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4993091 rs577027432 |
372 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758846776 CA4993093 |
373 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758846776 CA4993092 |
373 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747072653 CA4993094 |
374 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4993096 rs776825666 |
375 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993097 rs746067543 |
376 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4993098 rs770211819 |
377 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4993099 rs775354857 |
377 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993101 rs199504923 |
378 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762852888 CA4993100 |
378 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA189456356 rs901288444 |
380 | C>G | No |
ClinGen TOPMed |
|
|
CA372979654 rs1232581516 |
380 | C>S | No |
ClinGen gnomAD |
|
|
rs892014818 CA189456360 |
381 | D>E | No |
ClinGen TOPMed |
|
|
rs994149615 CA189456359 |
381 | D>V | No |
ClinGen TOPMed |
|
|
rs774183371 CA372979712 |
385 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774183371 CA4993102 |
385 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372979713 rs142940933 |
385 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142940933 CA189456377 |
385 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1107398 CA4993103 rs142940933 |
385 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4993104 rs766915260 |
386 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1484653290 CA372979724 |
387 | L>Q | No |
ClinGen gnomAD |
|
|
CA372979738 rs1475759853 |
389 | Y>C | No |
ClinGen gnomAD |
|
|
CA4993106 rs571833572 |
389 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1428479240 CA372979742 |
390 | D>N | No |
ClinGen Ensembl |
|
|
rs1587426748 CA372979779 |
395 | K>E | No |
ClinGen Ensembl |
|
|
CA372979790 rs1563856824 |
396 | L>Q | No |
ClinGen Ensembl |
|
|
CA4993111 rs3087653 VAR_051366 |
398 | E>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753013617 CA4993110 |
398 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757845205 CA4993114 |
399 | F>L | No |
ClinGen ExAC |
|
|
CA4993113 rs560953219 |
399 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372979804 rs560953219 |
399 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1315068978 CA372979827 |
402 | Y>* | No |
ClinGen gnomAD |
|
|
rs1355823095 CA372979830 |
403 | P>A | No |
ClinGen gnomAD |
|
|
CA189456445 rs779616793 |
404 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779616793 CA4993115 |
404 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA372979841 rs1375371415 |
405 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372979849 rs1563856865 |
406 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 407 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1587426865 CA372979860 |
407 | P>R | No |
ClinGen Ensembl |
|
|
CA189456463 rs962759119 |
408 | G>* | No |
ClinGen Ensembl |
|
|
CA4993119 rs749048262 |
410 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314663256 CA372979879 |
411 | N>H | No |
ClinGen gnomAD |
|
|
CA4993120 rs768539374 |
411 | N>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q92966
No regional properties for Q92966
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92966 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| snRNA-activating protein complex | A protein complex that recognizes the proximal sequence element of RNA polymerase II and III snRNA promoters. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| bent DNA binding | Binding to DNA in a bent conformation. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| RNA polymerase III general transcription initiation factor activity | A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase III. Factors required for RNA polymerase III transcription initiation include TFIIIA, TFIIIB and TFIIIC. RNA polymerase III transcribes genes encoding short RNAs, including tRNAs, 5S rRNA, U6 snRNA, the short ncRNA component of RNases P, the mitochondrial RNA processing (MRP) RNA, the signal recognition particle SRP RNA, and in higher eukaryotes a number of micro and other small RNAs, though there is some variability across species as to whether a given small noncoding RNA is transcribed by RNA polymerase II or RNA polymerase III. |
| RNA polymerase III type 3 promoter sequence-specific DNA binding | Binding to a sequence of DNA that is a part of a type 3 promoter that controls transcription by RNA polymerase III (Pol III). A type 3 Pol III promoter is composed of elements upstream of the transcription start site, including a TATA box. The human U6 snRNA gene has a type 3 promoter. Type 3 Pol III promoters have not been observed in S. cerevisiae. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| snRNA transcription | The synthesis of small nuclear RNA (snRNA) from a DNA template. |
| snRNA transcription by RNA polymerase II | The synthesis of small nuclear RNA (snRNA) from a DNA template by RNA Polymerase II (Pol II), originating at a Pol II promoter. |
| snRNA transcription by RNA polymerase III | The synthesis of small nuclear RNA (snRNA) from a DNA template by RNA Polymerase III (Pol III), originating at a Pol III promoter. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transcription by RNA polymerase III | The synthesis of RNA from a DNA template by RNA polymerase III, originating at an RNAP III promoter. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8L627 | SRD2 | snRNA-activating protein complex subunit | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEGSRGGPT | CSGVGGRQDP | VSGSGGCNFP | EYELPELNTR | AFHVGAFGEL | WRGRLRGAGD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSLREPPASA | LPGSQAADSD | REDAAVARDL | DCSLEAAAEL | RAVCGLDKLK | CLEDGEDPEV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IPENTDLVTL | GVRKRFLEHR | EETITIDRAC | RQETFVYEME | SHAIGKKPEN | SADMIEEGEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILSVNILYPV | IFHKHKEHKP | YQTMLVLGSQ | KLTQLRDSIR | CVSDLQIGGE | FSNTPDQAPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HISKDLYKSA | FFYFEGTFYN | DKRYPECRDL | SRTIIEWSES | HDRGYGKFQT | ARMEDFTFND |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LCIKLGFPYL | YCHQGDCEHV | IVITDIRLVH | HDDCLDRTLY | PLLIKKHWLW | TRKCFVCKMY |
| 370 | 380 | 390 | 400 | 410 | |
| TARWVTNNDS | FAPEDPCFFC | DVCFRMLHYD | SEGNKLGEFL | AYPYVDPGTF | N |