Q9UKN8
Gene name |
GTF3C4 |
Protein name |
General transcription factor 3C polypeptide 4 |
Names |
TF3C-delta, Transcription factor IIIC 90 kDa subunit, TFIIIC 90 kDa subunit, TFIIIC90, Transcription factor IIIC subunit delta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9329 |
EC number |
2.3.1.48: Transferring groups other than amino-acyl groups |
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
4 structures for Q9UKN8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8CLI | EM | 320 A | B | 1-822 | PDB |
| 8CLJ | EM | 320 A | B/G | 1-822 | PDB |
| 8CLL | EM | 340 A | B/G | 1-822 | PDB |
| AF-Q9UKN8-F1 | Predicted | AlphaFoldDB |
499 variants for Q9UKN8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1001047248 CA200870740 |
2 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1022128165 CA200870757 |
2 | N>K | No |
ClinGen TOPMed |
|
|
rs774493926 CA5300548 |
3 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375364240 rs1311171799 |
3 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs143172300 COSM3699498 CA5300549 |
4 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1367488266 CA375364256 |
4 | A>V | No |
ClinGen TOPMed |
|
|
CA375364265 rs1315194724 |
5 | D>G | No |
ClinGen gnomAD |
|
|
rs977905479 CA200870765 |
7 | A>T | No |
ClinGen Ensembl |
|
|
rs551059877 CA5300550 |
7 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418573317 CA375364331 |
8 | R>Q | No |
ClinGen TOPMed |
|
|
CA375364323 rs1237487155 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs199984441 CA5300551 |
9 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375364347 rs199984441 |
9 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA200870769 rs960462253 |
9 | V>M | No |
ClinGen Ensembl |
|
|
rs537208639 CA5300552 |
10 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1482850396 CA375364382 |
12 | A>T | No |
ClinGen gnomAD |
|
|
rs1258001041 CA375364405 |
13 | D>H | No |
ClinGen gnomAD |
|
|
rs757913856 CA5300556 |
14 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757913856 CA5300555 |
14 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020110450 CA200870799 |
15 | G>R | No |
ClinGen TOPMed |
|
|
CA5300558 rs756998341 |
16 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs751203468 CA375364465 |
16 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751203468 CA5300557 |
16 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375364481 rs746264187 |
17 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781585893 CA5300559 |
17 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300560 rs746264187 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375364524 rs1305170068 |
20 | G>R | No |
ClinGen gnomAD |
|
|
CA375364554 rs1590128046 |
21 | E>G | No |
ClinGen Ensembl |
|
|
rs1394599703 CA375364543 |
21 | E>K | No |
ClinGen TOPMed |
|
|
rs1471588953 CA375364598 |
23 | E>G | No |
ClinGen TOPMed |
|
|
rs1446455850 CA375364616 |
24 | G>A | No |
ClinGen gnomAD |
|
|
CA375364621 rs1446455850 |
24 | G>E | No |
ClinGen gnomAD |
|
|
CA375364645 rs1332490798 |
25 | E>D | No |
ClinGen gnomAD |
|
|
CA375364639 rs1365437491 |
25 | E>G | No |
ClinGen TOPMed |
|
|
rs1028873172 CA200870818 |
26 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375364653 rs1377109871 |
26 | G>R | No |
ClinGen gnomAD |
|
|
rs1028873172 CA375364659 |
26 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375364678 rs1298556322 |
27 | G>D | No |
ClinGen gnomAD |
|
|
rs951933277 CA200870822 |
27 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5300562 rs770323812 |
28 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13287671 CA200870832 |
29 | E>* | No |
ClinGen gnomAD |
|
|
rs13287671 CA375364710 |
29 | E>K | No |
ClinGen gnomAD |
|
|
CA375364741 rs1257726069 |
30 | A>V | No |
ClinGen gnomAD |
|
|
CA200870843 rs984605635 |
31 | G>D | No |
ClinGen TOPMed |
|
|
CA375364748 rs780496217 |
31 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780496217 CA5300563 |
31 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5300565 rs768668818 |
35 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459204243 CA375364854 |
37 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375364868 rs1266744744 |
38 | D>Y | No |
ClinGen gnomAD |
|
|
CA375364896 rs1433893626 |
39 | A>V | No |
ClinGen gnomAD |
|
|
CA375364899 rs1178362880 |
40 | A>S | No |
ClinGen gnomAD |
|
|
rs1178362880 CA375364901 |
40 | A>T | No |
ClinGen gnomAD |
|
|
rs1564351676 CA375364916 |
41 | P>A | No |
ClinGen Ensembl |
|
|
rs1465576302 CA375364927 |
41 | P>L | No |
ClinGen gnomAD |
|
|
CA375364943 rs1402994928 |
42 | G>E | No |
ClinGen gnomAD |
|
|
rs1291484338 CA375364963 |
43 | P>L | No |
ClinGen gnomAD |
|
|
CA375364947 rs1443911202 |
43 | P>T | No |
ClinGen gnomAD |
|
|
rs1047261559 CA200870866 |
44 | S>N | No |
ClinGen gnomAD |
|
|
CA200870870 rs867158126 |
45 | A>S | No |
ClinGen gnomAD |
|
|
rs867158126 CA375364996 |
45 | A>T | No |
ClinGen gnomAD |
|
|
CA375365008 rs1302791120 |
45 | A>V | No |
ClinGen gnomAD |
|
|
CA200870872 rs867444042 |
46 | A>S | No |
ClinGen gnomAD |
|
|
rs1217938706 CA375365041 |
47 | F>Y | No |
ClinGen gnomAD |
|
|
CA5300571 rs765083568 |
48 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300570 rs759314281 |
48 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488942502 CA375365074 |
49 | L>F | No |
ClinGen gnomAD |
|
|
rs752623629 CA5300572 |
49 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375365096 rs1261132986 |
50 | M>I | No |
ClinGen gnomAD |
|
|
rs866689535 CA200870902 |
50 | M>K | No |
ClinGen Ensembl |
|
|
CA5300575 rs763652907 |
50 | M>V | No |
ClinGen ExAC |
|
|
rs751151981 CA200870906 |
52 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300576 rs751151981 |
52 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756908231 CA5300577 |
53 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs756908231 CA375365122 |
53 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369871890 CA200870914 |
53 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA375365137 rs1489321984 |
54 | R>Q | No |
ClinGen gnomAD |
|
|
CA375365156 rs1164551248 |
55 | E>D | No |
ClinGen gnomAD |
|
|
rs1348885489 CA375365163 |
56 | P>L | No |
ClinGen gnomAD |
|
|
rs756370178 CA5300580 |
58 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs553661991 CA5300581 |
59 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577948269 CA375365203 |
60 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1044725141 CA200870938 |
61 | Q>H | No |
ClinGen TOPMed |
|
|
rs1278819638 CA375365230 |
62 | Y>C | No |
ClinGen gnomAD |
|
|
CA375365241 rs1342107757 |
63 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375365237 rs1342107757 |
63 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866919383 CA200870940 |
63 | A>V | No |
ClinGen gnomAD |
|
|
CA375365256 rs1445349926 |
65 | S>G | No |
ClinGen TOPMed |
|
|
CA375365263 rs1286353466 |
65 | S>T | No |
ClinGen TOPMed |
|
|
CA5300584 rs778934641 |
66 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375365277 rs1224145377 |
66 | G>D | No |
ClinGen gnomAD |
|
|
CA5300585 rs748278700 |
69 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 71 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5300587 rs773240454 |
74 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375365374 rs1371346471 |
75 | D>N | No |
ClinGen TOPMed |
|
|
rs1296395892 CA375365395 |
76 | H>R | No |
ClinGen TOPMed |
|
|
CA375365406 rs1428121056 |
77 | R>H | No |
ClinGen TOPMed |
|
|
CA375365416 rs1590128601 |
78 | V>G | No |
ClinGen Ensembl |
|
|
rs769426206 CA5300589 |
79 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5300590 rs775452875 |
80 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762948791 CA5300591 |
81 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA375365457 rs1298313864 |
82 | T>A | No |
ClinGen gnomAD |
|
|
CA5300593 rs373168131 |
83 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373168131 CA5300594 |
83 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767061987 CA5300595 |
84 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1008328067 CA200870981 |
84 | R>P | No |
ClinGen Ensembl |
|
|
rs1379696323 CA375365489 |
85 | S>C | No |
ClinGen gnomAD |
|
|
rs1399928880 CA375365520 |
87 | A>G | No |
ClinGen TOPMed |
|
|
CA375365582 rs375081797 |
92 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1441120710 CA375365626 |
96 | H>Y | No |
ClinGen gnomAD |
|
|
rs996102613 CA200871005 |
97 | N>D | No |
ClinGen Ensembl |
|
|
rs1008810586 CA200871008 |
97 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199967299 CA375365648 |
98 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5300600 rs199967299 |
98 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1243940632 CA375365652 |
99 | G>S | No |
ClinGen TOPMed |
|
|
CA375365666 rs1442395106 |
101 | D>N | No |
ClinGen TOPMed |
|
|
rs1590128759 CA375365680 |
103 | V>L | No |
ClinGen Ensembl |
|
|
CA375365699 rs1213542339 |
104 | I>V | No |
ClinGen TOPMed |
|
|
CA5300602 rs748691331 |
105 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs144693888 CA5300604 |
110 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375365789 rs144693888 |
110 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333486710 CA375365811 |
111 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200871020 rs370720484 |
112 | P>R | No |
ClinGen ESP |
|
|
CA375365824 rs1454344173 |
112 | P>S | No |
ClinGen gnomAD |
|
|
CA5300606 rs771315466 |
113 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5300608 rs749149752 |
114 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375365869 rs1343035516 |
115 | S>N | No |
ClinGen gnomAD |
|
|
CA375365871 CA375365873 rs1219136683 |
115 | S>R | No |
ClinGen gnomAD |
|
|
rs1458699397 CA375365897 |
117 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs147937684 CA200878164 |
126 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA5300639 rs764715859 |
127 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375367557 rs1353734836 |
128 | E>D | No |
ClinGen gnomAD |
|
|
rs1476543075 CA375367560 |
129 | C>G | No |
ClinGen TOPMed |
|
|
rs1490712147 COSM1106289 CA375367710 |
134 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5300641 rs757337001 |
134 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs141734420 CA5300644 |
135 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150072883 CA5300645 |
137 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200878178 rs983358572 |
138 | D>N | No |
ClinGen Ensembl |
|
|
CA5300646 rs142424490 |
140 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777836863 CA5300648 |
144 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1417893808 CA375368142 |
152 | N>D | No |
ClinGen gnomAD |
|
|
CA375368147 rs1297679561 |
152 | N>S | No |
ClinGen gnomAD |
|
|
rs965874077 CA200878184 |
153 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs937807375 CA200878195 |
154 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 154 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5300651 rs776146272 |
157 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1340310794 CA375368308 |
159 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5300652 rs762953768 |
161 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375368373 rs1271089183 |
162 | R>G | No |
ClinGen TOPMed |
|
|
CA5300653 rs769535681 |
162 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5300654 rs775703703 |
163 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA375368410 rs775703703 |
163 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5300655 rs763441059 |
165 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237266027 CA375368451 |
165 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA200878212 rs764369501 |
168 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375369768 rs1564355300 |
172 | M>L | No |
ClinGen Ensembl |
|
|
CA375369789 rs1184003543 |
175 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762433623 CA375369803 |
177 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5300658 rs762433623 |
177 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA375369818 rs1158050028 |
178 | G>D | No |
ClinGen gnomAD |
|
|
rs767666438 CA5300659 |
178 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5300660 rs750571235 |
180 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs756387215 CA5300661 |
180 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA5300663 rs376003896 |
189 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5300664 rs758147814 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA200878236 rs925192356 |
190 | R>H | No |
ClinGen gnomAD |
|
|
CA5300665 rs777448372 |
191 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375370009 rs1420517846 |
192 | T>I | No |
ClinGen TOPMed |
|
|
CA200878241 rs763759650 |
193 | I>M | No |
ClinGen TOPMed |
|
|
CA5300667 rs770891234 |
194 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA200878242 rs935152452 |
195 | A>S | No |
ClinGen Ensembl |
|
|
CA375370078 rs1474103338 |
198 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1564355332 CA375370074 |
198 | N>Y | No |
ClinGen Ensembl |
|
|
rs145407571 CA5300668 |
200 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200878251 rs1052714753 |
201 | Q>R | No |
ClinGen Ensembl |
|
|
CA5300669 rs745440647 |
203 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149206327 CA200878266 |
204 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375370183 rs1206041122 |
206 | V>G | No |
ClinGen TOPMed |
|
|
CA5300673 rs573535287 |
210 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1380072606 CA375370243 |
211 | I>F | No |
ClinGen gnomAD |
|
|
CA5300674 rs774888300 |
211 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380072606 CA375370241 |
211 | I>V | No |
ClinGen gnomAD |
|
|
CA5300677 rs773416400 |
215 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA200878289 rs760878207 |
216 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300678 rs760878207 |
216 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766376449 CA5300679 |
220 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200878297 rs200907339 |
224 | S>F | No |
ClinGen Ensembl |
|
|
rs540918126 CA375370404 |
225 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375370410 rs1470597962 |
225 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5300681 rs540918126 |
225 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350449583 CA375370412 |
226 | N>D | No |
ClinGen TOPMed |
|
|
rs1178947969 CA375370419 |
227 | E>K | No |
ClinGen gnomAD |
|
|
CA5300683 rs143033367 |
229 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143033367 CA375370437 |
229 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5300687 rs146657712 |
234 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779455330 CA5300688 |
235 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs748932249 CA5300689 |
237 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768234250 CA5300690 |
237 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248346415 CA375370535 |
243 | H>Q | No |
ClinGen TOPMed |
|
|
rs1178365341 CA375370568 |
248 | P>A | No |
ClinGen TOPMed |
|
|
rs1564355394 CA375370574 |
249 | V>L | No |
ClinGen Ensembl |
|
|
CA200878414 rs1004371797 |
256 | I>F | No |
ClinGen Ensembl |
|
|
rs145321049 CA5300694 |
256 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1481048356 CA375370674 |
263 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761102419 CA5300695 |
264 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1421896895 CA375370688 |
265 | N>D | No |
ClinGen gnomAD |
|
|
CA375370702 rs1354693164 |
267 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA375370711 rs759779139 |
268 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA5300698 rs759779139 |
268 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs749918154 CA200878459 |
269 | R>Q | No |
ClinGen gnomAD |
|
|
rs754499700 CA5300699 |
269 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375370720 rs1405463664 |
270 | D>N | No |
ClinGen gnomAD |
|
|
CA5300700 rs201546911 |
271 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756979020 CA5300701 |
273 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767312396 CA5300702 |
273 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA375370762 rs1293065225 |
277 | A>T | No |
ClinGen TOPMed |
|
|
rs1224858006 CA375370806 |
283 | G>D | No |
ClinGen gnomAD |
|
|
rs779585989 CA5300705 |
283 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375370819 rs1396996828 |
285 | I>V | No |
ClinGen TOPMed |
|
|
rs778778757 CA5300709 |
287 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778778757 CA5300708 |
287 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1422174670 CA375370854 |
290 | F>C | No |
ClinGen gnomAD |
|
|
CA375370853 rs1422174670 |
290 | F>S | No |
ClinGen gnomAD |
|
|
rs201207420 CA200878522 |
290 | F>V | No |
ClinGen Ensembl |
|
|
CA5300711 rs773741291 |
295 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA375370890 rs1304455556 |
296 | G>R | No |
ClinGen gnomAD |
|
|
CA375370898 rs1358485963 |
297 | K>E | No |
ClinGen gnomAD |
|
|
rs771386434 CA375370903 |
297 | K>N | No |
ClinGen ExAC TOPMed |
|
|
CA5300715 rs759600640 |
304 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776754367 CA5300714 |
304 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5300717 rs376721373 |
306 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs763182669 CA5300718 |
307 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA375370963 rs1455269072 |
307 | E>K | No |
ClinGen TOPMed |
|
|
CA5300719 rs150601105 |
312 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375371009 rs1248189045 |
314 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1485741709 CA375371014 |
315 | V>I | No |
ClinGen TOPMed |
|
|
rs1283975422 CA375371021 |
316 | L>V | No |
ClinGen gnomAD |
|
|
CA375371072 rs1244169119 |
322 | E>G | No |
ClinGen gnomAD |
|
|
rs750226686 CA5300720 |
322 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5300721 rs138645157 |
323 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318090338 CA375371118 |
328 | M>I | No |
ClinGen TOPMed |
|
|
CA375371126 rs1176255946 |
329 | S>T | No |
ClinGen gnomAD |
|
|
CA5300723 rs753389105 |
336 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375371179 rs1302712779 |
337 | F>S | No |
ClinGen TOPMed |
|
|
CA375371197 rs1232207652 |
339 | P>R | No |
ClinGen TOPMed |
|
|
rs754475496 CA5300724 |
339 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA200878597 rs373209760 |
340 | I>M | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 342 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378021066 CA375371277 |
346 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375371291 rs1400028180 |
347 | L>P | No |
ClinGen gnomAD |
|
|
rs1159806850 CA375371310 |
349 | A>T | No |
ClinGen gnomAD |
|
|
CA5300725 rs778582706 |
350 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 351 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346925659 CA375371336 |
351 | K>R | No |
ClinGen gnomAD |
|
|
rs1290459438 CA375371464 |
361 | I>T | No |
ClinGen TOPMed |
|
|
rs1454841578 CA375371511 |
364 | K>N | No |
ClinGen gnomAD |
|
|
rs201188354 CA5300728 |
366 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5300731 rs781484748 |
373 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375371609 rs1310983974 |
374 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1455193844 CA375371634 |
376 | C>R | No |
ClinGen TOPMed |
|
|
rs1053550791 CA200878627 |
378 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA200878646 rs377330805 |
382 | P>S | No |
ClinGen ESP |
|
|
rs769815686 CA5300733 |
383 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA375371726 rs1469145911 |
384 | Q>H | No |
ClinGen gnomAD |
|
|
rs1409996696 CA375371739 |
386 | C>Y | No |
ClinGen gnomAD |
|
|
CA375371756 rs1412690859 |
388 | C>S | No |
ClinGen gnomAD |
|
|
rs773046935 CA5300737 |
391 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA375371782 rs1329604663 |
392 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5300739 rs766205680 |
394 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760454849 CA5300738 |
394 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs753664038 CA5300740 |
398 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1004910585 CA200878705 |
399 | V>I | No |
ClinGen Ensembl |
|
|
CA375371828 rs1441626006 |
400 | F>L | No |
ClinGen gnomAD |
|
|
rs764806134 CA5300742 |
401 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1590134757 CA375371840 |
401 | W>L | No |
ClinGen Ensembl |
|
|
rs752302758 CA5300744 |
402 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs200074482 CA200878719 |
403 | L>R | No |
ClinGen Ensembl |
|
|
rs1205141984 CA375371862 |
405 | L>V | No |
ClinGen gnomAD |
|
|
rs1281192676 CA375371882 |
408 | K>T | No |
ClinGen TOPMed |
|
|
rs140693132 CA5300748 |
413 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375371922 rs1324943035 |
414 | H>L | No |
ClinGen TOPMed |
|
|
CA5300751 rs770327028 |
420 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749428116 CA5300753 |
426 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780087553 CA5300752 |
426 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768862853 CA5300754 |
429 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs528734639 CA5300755 |
430 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375372086 rs1404854210 |
435 | N>K | No |
ClinGen gnomAD |
|
|
CA375372110 rs1284532197 |
439 | Y>C | No |
ClinGen gnomAD |
|
|
CA5300756 rs748419455 |
442 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs770585023 CA5300757 |
443 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759521618 CA5300759 |
447 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200878769 rs900835851 |
453 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5300760 rs765321046 |
456 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1372359443 CA375372273 |
463 | H>P | No |
ClinGen gnomAD |
|
|
CA200878780 rs978774425 |
464 | Q>R | No |
ClinGen Ensembl |
|
|
rs1167459551 CA375372315 |
469 | S>P | No |
ClinGen TOPMed |
|
|
rs1411684024 CA375372353 |
472 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1172913383 CA375372376 |
473 | G>A | No |
ClinGen TOPMed |
|
|
CA375372409 rs1303849289 |
476 | R>M | No |
ClinGen gnomAD |
|
|
rs751123154 CA5300764 |
477 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA200878788 rs956649378 |
479 | G>R | No |
ClinGen Ensembl |
|
|
rs767741207 CA5300766 |
482 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA375372510 rs1271530140 |
485 | C>Y | No |
ClinGen gnomAD |
|
|
rs755530765 CA200878808 |
486 | G>S | No |
ClinGen gnomAD |
|
|
rs917849815 CA200878810 |
487 | A>V | No |
ClinGen gnomAD |
|
|
CA375372578 rs1203382261 |
491 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1258273070 CA375372588 |
492 | I>T | No |
ClinGen TOPMed |
|
|
rs780605582 CA5300769 |
494 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375372625 rs1447405361 |
495 | E>D | No |
ClinGen gnomAD |
|
|
rs1195102253 CA375372634 |
496 | G>D | No |
ClinGen gnomAD |
|
|
rs1564355784 CA375372641 |
497 | M>V | No |
ClinGen Ensembl |
|
|
rs749801864 CA5300770 |
499 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375372670 rs1444240476 |
499 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375372678 rs1387221677 |
500 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1387221677 CA375372676 |
500 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1228512422 CA375372721 |
504 | V>I | No |
ClinGen TOPMed |
|
|
rs142926692 CA5300773 |
505 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5300774 rs142926692 |
505 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5300775 rs776274426 |
511 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769713214 CA5300777 |
512 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1451556358 CA375372833 |
512 | F>L | No |
ClinGen gnomAD |
|
|
CA375372829 rs769713214 |
512 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161798476 CA375372859 |
515 | L>F | No |
ClinGen Ensembl |
|
|
CA5300779 rs763007178 |
515 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA200878861 rs868547019 |
516 | K>E | No |
ClinGen Ensembl |
|
|
rs1426530867 CA375372902 |
518 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389189391 CA375372955 |
523 | A>S | No |
ClinGen TOPMed |
|
|
CA5300783 rs767260308 |
524 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1206604536 CA375372973 |
524 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1168125401 CA375372998 |
528 | S>C | No |
ClinGen TOPMed |
|
|
rs1024343600 CA200878866 |
529 | S>L | No |
ClinGen TOPMed |
|
|
CA5300784 rs750782237 |
530 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA375373018 rs1166822372 |
532 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 534 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 534 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5300786 rs766746512 |
535 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs1184490654 CA375373062 |
538 | D>H | No |
ClinGen gnomAD |
|
|
CA5300788 rs536735702 COSM1106296 |
539 | L>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs754298365 CA5300787 |
539 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181205272 CA375373096 |
542 | L>V | No |
ClinGen gnomAD |
|
|
CA5300791 rs748315051 |
544 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300790 rs748315051 |
544 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778071444 CA5300792 |
545 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747243764 CA5300793 |
552 | H>Y | No |
ClinGen ExAC |
|
|
rs1405888496 CA375373244 |
553 | I>M | No |
ClinGen gnomAD |
|
|
CA375373250 rs1468950956 |
554 | P>S | No |
ClinGen gnomAD |
|
|
rs1436146810 CA375373281 |
556 | F>C | No |
ClinGen TOPMed |
|
|
CA5300795 rs780026999 |
556 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5300796 rs749147104 |
558 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs146673001 CA375373338 |
561 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1241168444 | 564 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5300798 rs145764040 |
565 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375373400 rs1270994884 |
565 | I>T | No |
ClinGen TOPMed |
|
|
rs1413805272 CA375373436 |
568 | S>G | No |
ClinGen Ensembl |
|
|
CA375373457 rs1335329586 |
569 | G>A | No |
ClinGen TOPMed |
|
|
rs1479787005 CA375373491 |
572 | Y>C | No |
ClinGen gnomAD |
|
|
CA375373508 rs1195238522 |
573 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5300801 rs772794978 |
574 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375373524 rs772794978 |
574 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 574 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 574 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5300803 rs766693428 |
581 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs765836358 CA5300806 |
588 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300805 rs759943928 |
588 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758442546 CA5300808 |
591 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751790621 CA5300810 |
597 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA375373813 rs1223832809 |
600 | T>A | No |
ClinGen gnomAD |
|
|
rs1391983802 CA375373815 |
600 | T>I | No |
ClinGen TOPMed |
|
|
rs1294771949 CA375373830 |
602 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757590948 CA5300811 |
602 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs534512256 CA5300812 |
603 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534512256 CA200879012 |
603 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5300813 rs370378462 |
604 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375373872 rs577534312 |
609 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5300815 rs577534312 |
609 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1209177 CA200879018 rs1050022135 |
611 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 613 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375373907 rs1201962438 |
614 | M>I | No |
ClinGen gnomAD |
|
|
rs1417883643 CA375373913 |
615 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 615 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375373918 rs1426345087 |
616 | N>D | No |
ClinGen gnomAD |
|
|
rs1169355939 CA375373919 |
616 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 618 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564356001 CA375373938 |
619 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771524922 CA5300817 |
628 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1405555555 CA375374011 |
629 | K>E | No |
ClinGen gnomAD |
|
|
rs956202694 CA375374024 |
630 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1359671198 CA375374046 |
634 | Q>E | No |
ClinGen gnomAD |
|
|
CA5300819 rs760291993 |
634 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1359671198 CA375374045 |
634 | Q>K | No |
ClinGen gnomAD |
|
|
CA375374049 rs1381836918 |
634 | Q>R | No |
ClinGen gnomAD |
|
|
rs143136226 CA5300821 |
637 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143136226 CA5300822 |
637 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556897264 CA5300824 |
640 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200585752 CA5300825 |
641 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375374109 rs1187490676 |
643 | G>E | No |
ClinGen gnomAD |
|
|
rs1332016605 CA375374106 |
643 | G>R | No |
ClinGen TOPMed |
|
|
CA5300826 rs763400777 |
645 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1261921431 CA375374120 |
645 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs368103877 CA200879094 |
646 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368103877 CA5300827 |
646 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757539474 CA5300829 |
648 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757687002 CA5300830 |
650 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1452722959 CA375374160 |
651 | D>A | No |
ClinGen gnomAD |
|
|
CA375374161 rs1452722959 |
651 | D>G | No |
ClinGen gnomAD |
|
|
rs1343400741 CA375374157 |
651 | D>N | No |
ClinGen gnomAD |
|
|
rs1343400741 CA375374158 |
651 | D>Y | No |
ClinGen gnomAD |
|
|
rs201972228 CA5300831 |
652 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5300832 rs371993706 |
652 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5300836 rs777246101 |
655 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs758374926 CA5300835 |
655 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970646182 CA200879147 |
656 | T>I | No |
ClinGen Ensembl |
|
|
rs1216865325 CA375374201 |
658 | D>G | No |
ClinGen gnomAD |
|
|
CA200879149 rs926481315 |
659 | A>G | No |
ClinGen Ensembl |
|
|
rs781306541 CA5300838 |
662 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300839 rs375701353 |
662 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA375374245 rs1444675937 |
665 | M>T | No |
ClinGen gnomAD |
|
|
CA200879155 rs1001914710 |
665 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375374275 rs1345097639 |
669 | L>F | No |
ClinGen TOPMed |
|
|
rs368435345 CA5300841 |
671 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564356112 CA375374329 |
673 | Q>* | No |
ClinGen Ensembl |
|
|
rs1360870586 CA375374348 |
674 | G>R | No |
ClinGen TOPMed |
|
|
rs763532468 CA5300843 |
676 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764755045 CA5300844 |
678 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1407142092 CA375374471 |
682 | H>R | No |
ClinGen gnomAD |
|
|
rs1336275955 CA375374462 |
682 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA200879184 rs984241478 |
684 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375374507 rs1373238019 |
685 | R>G | No |
ClinGen gnomAD |
|
|
rs749134726 CA200879196 |
688 | M>T | No |
ClinGen Ensembl |
|
|
CA5300846 rs761918283 |
698 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5300847 rs767720022 |
701 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA375374792 rs1414770370 |
704 | N>K | No |
ClinGen TOPMed |
|
|
CA5300848 rs750611452 |
706 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 707 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262074025 CA375374820 |
707 | I>V | No |
ClinGen gnomAD |
|
|
CA375374853 rs1211535883 |
709 | T>I | No |
ClinGen gnomAD |
|
|
CA5300850 rs528646416 |
710 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA200879215 rs528646416 |
710 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752487633 CA5300851 COSM1460732 |
710 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1414129888 CA375374898 |
714 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590135380 CA375374956 |
721 | E>G | No |
ClinGen Ensembl |
|
|
CA375374954 rs1430165350 |
721 | E>Q | No |
ClinGen gnomAD |
|
|
rs1564356176 CA375374985 |
725 | R>G | No |
ClinGen Ensembl |
|
|
CA375374998 rs1443524221 |
727 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368128146 CA5300857 |
728 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780594678 CA5300856 |
728 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879073909 CA200881189 |
729 | V>M | No |
ClinGen Ensembl |
|
|
CA5300878 rs767870216 |
731 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200881216 rs994665926 |
733 | H>Y | No |
ClinGen TOPMed |
|
|
rs1177977828 CA375375517 |
734 | I>V | No |
ClinGen TOPMed |
|
|
rs1480518398 CA375375527 |
735 | S>L | No |
ClinGen TOPMed |
|
|
CA5300880 rs748962520 |
738 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290291502 CA375375587 |
743 | F>S | No |
ClinGen gnomAD |
|
|
CA375375607 rs1453076741 |
746 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA375375622 rs1190789296 |
748 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375375630 rs1241685567 |
749 | L>V | No |
ClinGen gnomAD |
|
|
rs773496457 CA200881257 |
751 | K>E | No |
ClinGen Ensembl |
|
|
rs779452492 CA5300882 |
753 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs867559745 CA200881263 |
755 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs775529469 CA5300884 |
758 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164727629 CA375375700 |
759 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1393540102 COSM177083 CA375375701 |
759 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773331846 CA5300885 |
760 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5300886 rs760736129 |
763 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA375375735 rs1325484456 |
764 | C>F | No |
ClinGen gnomAD |
|
|
CA5300888 rs776781321 |
765 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299149215 CA375375739 |
765 | S>P | No |
ClinGen gnomAD |
|
|
rs763842441 CA5300890 |
766 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358398099 CA375375788 |
772 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA375375787 rs1225561862 |
772 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770057207 CA5300911 |
775 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5300913 rs761447650 |
776 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA375375832 rs1268581248 |
777 | Y>H | No |
ClinGen TOPMed |
|
|
CA375375892 rs1426692041 |
785 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1033266842 CA200882768 |
785 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5300915 rs139312188 |
791 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5300916 rs760699737 |
791 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375375936 rs139312188 |
791 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5300917 rs765957834 |
796 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389576766 CA375375968 |
796 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs958787310 CA200882798 |
797 | H>Q | No |
ClinGen TOPMed |
|
|
rs1351045720 CA375375978 |
798 | P>S | No |
ClinGen gnomAD |
|
|
rs1416785968 CA375375993 |
800 | P>L | No |
ClinGen TOPMed |
|
|
CA375376026 rs1431515716 |
803 | P>S | No |
ClinGen gnomAD |
|
|
rs538028488 CA5300958 COSM1209178 |
804 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA375376054 rs1458168319 |
807 | K>E | No |
ClinGen gnomAD |
|
|
rs1295077631 CA375376064 |
808 | R>K | No |
ClinGen gnomAD |
|
|
rs770857932 CA5300959 |
808 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 810 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759573114 CA5300961 |
821 | V>I | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UKN8
4 regional properties for Q9UKN8
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.48 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| transcription factor TFIIIC complex | A heterotrimeric transcription factor complex that is involved in regulating transcription from RNA polymerase III (Pol III) promoters. TFIIIC contains three conserved subunits that associate with the proximal Pol III promoter element, and additional subunits that associate with sequence elements downstream of the promoter and are more diverged among species. It also functions as a boundary element to partition genome content into distinct domains outside Pol III promoter regions. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| histone acetyltransferase activity | Catalysis of the reaction: acetyl-CoA + histone = CoA + acetyl-histone. |
| 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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| 5S class rRNA transcription by RNA polymerase III | The synthesis of 5S ribosomal RNA (rRNA), or an equivalent rRNA, from a DNA template by RNA polymerase III (Pol III), originating at a type 1 RNA polymerase III promoter. |
| transcription by RNA polymerase III | The synthesis of RNA from a DNA template by RNA polymerase III, originating at an RNAP III promoter. |
| transcription initiation at RNA polymerase III promoter | A transcription initiation process that takes place at a RNA polymerase III gene promoter. Transfer RNAs (tRNA) genes, as well as some other non-coding RNAs, are transcribed by RNA polymerase III. |
| tRNA transcription by RNA polymerase III | The synthesis of transfer RNA (tRNA) from a DNA template by RNA polymerase III (Pol III), originating at a Pol III promoter. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BMQ2 | Gtf3c4 | General transcription factor 3C polypeptide 4 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNTADQARVG | PADDGPAPSG | EEEGEGGGEA | GGKEPAADAA | PGPSAAFRLM | VTRREPAVKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QYAVSGLEPL | AWSEDHRVSV | STARSIAVLE | LICDVHNPGQ | DLVIHRTSVP | APLNSCLLKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GSKTEVAECK | EKFAASKDPT | VSQTFMLDRV | FNPEGKALPP | MRGFKYTSWS | PMGCDANGRC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLAALTMDNR | LTIQANLNRL | QWVQLVDLTE | IYGERLYETS | YRLSKNEAPE | GNLGDFAEFQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRHSMQTPVR | MEWSGICTTQ | QVKHNNECRD | VGSVLLAVLF | ENGNIAVWQF | QLPFVGKESI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSCNTIESGI | TSPSVLFWWE | YEHNNRKMSG | LIVGSAFGPI | KILPVNLKAV | KGYFTLRQPV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ILWKEMDQLP | VHSIKCVPLY | HPYQKCSCSL | VVAARGSYVF | WCLLLISKAG | LNVHNSHVTG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LHSLPIVSMT | ADKQNGTVYT | CSSDGKVRQL | IPIFTDVALK | FEHQLIKLSD | VFGSVRTHGI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVSPCGAYLA | IITTEGMING | LHPVNKNYQV | QFVTLKTFEE | AAAQLLESSV | QNLFKQVDLI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DLVRWKILKD | KHIPQFLQEA | LEKKIESSGV | TYFWRFKLFL | LRILYQSMQK | TPSEALWKPT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HEDSKILLVD | SPGMGNADDE | QQEEGTSSKQ | VVKQGLQERS | KEGDVEEPTD | DSLPTTGDAG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GREPMEEKLL | EIQGKIEAVE | MHLTREHMKR | VLGEVYLHTW | ITENTSIPTR | GLCNFLMSDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EYDDRTARVL | IGHISKKMNK | QTFPEHCSLC | KEILPFTDRK | QAVCSNGHIW | LRCFLTYQSC |
| 790 | 800 | 810 | 820 | ||
| QSLIYRRCLL | HDSIARHPAP | EDPDWIKRLL | QSPCPFCDSP | VF |