Q8WUA4
PR
Gene name |
GTF3C2 (KIAA0011) |
Protein name |
General transcription factor 3C polypeptide 2 |
Names |
TF3C-beta, Transcription factor IIIC 110 kDa subunit, TFIIIC 110 kDa subunit, TFIIIC110, Transcription factor IIIC subunit beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2976 |
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
4 structures for Q8WUA4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8CLI | EM | 320 A | C | 1-911 | PDB |
| 8CLJ | EM | 320 A | C/H | 1-911 | PDB |
| 8CLL | EM | 340 A | C/H | 1-911 | PDB |
| AF-Q8WUA4-F1 | Predicted | AlphaFoldDB |
626 variants for Q8WUA4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA346192421 rs1276738178 |
3 | T>I | No |
ClinGen gnomAD |
|
|
rs774456786 CA1576520 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346192402 rs1572578116 |
6 | V>G | No |
ClinGen Ensembl |
|
|
CA44491788 rs142645928 |
7 | G>S | No |
ClinGen ESP |
|
|
CA1576517 rs777217682 |
8 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346192392 rs777217682 |
8 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346192393 rs777217682 |
8 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346192388 rs755767544 |
9 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755767544 CA1576516 |
9 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576515 rs747794450 |
11 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781579626 CA1576514 |
12 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346192365 rs1572578061 |
13 | E>G | No |
ClinGen Ensembl |
|
|
rs758967546 CA1576510 |
15 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA346192341 rs1179295707 |
17 | V>A | No |
ClinGen gnomAD |
|
|
CA1576509 rs750486387 |
17 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576507 rs762066855 |
18 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs767299084 CA1576505 |
19 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1209187925 CA346192326 |
20 | M>V | No |
ClinGen TOPMed |
|
|
CA346192312 rs1172512707 |
22 | V>M | No |
ClinGen gnomAD |
|
|
CA1576504 rs759417841 |
23 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1292449620 CA346192306 |
23 | V>I | No |
ClinGen gnomAD |
|
|
rs537771887 CA1576501 |
24 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747876286 CA44491634 |
24 | D>E | No |
ClinGen gnomAD |
|
|
CA346192288 rs772745624 |
26 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1297608496 CA346192285 |
26 | P>L | No |
ClinGen gnomAD |
|
|
CA1576500 rs772745624 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1576499 rs769217589 |
30 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1162400311 CA346192243 |
33 | Q>E | No |
ClinGen gnomAD |
|
|
rs867523702 CA44491584 |
34 | L>F | No |
ClinGen Ensembl |
|
|
CA1576498 rs747787178 |
34 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44491557 rs969057598 |
37 | K>R | No |
ClinGen Ensembl |
|
|
CA346192206 rs1439820537 |
38 | T>I | No |
ClinGen TOPMed |
|
|
rs368569454 CA1576496 |
43 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368569454 CA346192172 |
43 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346192170 rs1159894171 |
44 | S>G | No |
ClinGen TOPMed |
|
|
CA1576495 rs747366553 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413499258 CA346192150 |
47 | A>T | No |
ClinGen TOPMed |
|
|
CA346192145 rs1236425330 |
47 | A>V | No |
ClinGen gnomAD |
|
|
rs147479583 CA1576492 COSM1197505 |
49 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1576491 rs779013527 |
50 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574575739 CA44491496 |
52 | S>L | No |
ClinGen Ensembl |
|
|
rs1358311148 CA346192102 |
54 | P>L | No |
ClinGen gnomAD |
|
|
CA346192103 rs1219770961 |
54 | P>S | No |
ClinGen gnomAD |
|
|
CA1576489 rs138676594 |
55 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757309303 CA1576490 |
55 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs761045710 CA1576487 |
56 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766315503 CA1576485 |
59 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1576486 rs766315503 |
59 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA346192062 rs1291597277 |
61 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1576483 rs141860807 |
62 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346192055 rs1279593080 |
62 | D>Y | No |
ClinGen TOPMed |
|
|
CA1576482 rs769290410 |
63 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA346192047 rs1299101223 |
63 | S>C | No |
ClinGen gnomAD |
|
|
CA44491454 rs867301393 |
64 | P>L | No |
ClinGen Ensembl |
|
|
rs1421736248 CA346192043 |
64 | P>S | No |
ClinGen gnomAD |
|
|
rs145909275 CA1576480 |
66 | Q>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1576479 rs145909275 |
66 | Q>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA346192027 rs1434283633 |
66 | Q>H | No |
ClinGen gnomAD |
|
|
rs1237531073 CA346192020 |
67 | R>S | No |
ClinGen TOPMed |
|
|
CA1576478 rs768281681 |
69 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576477 rs746710918 |
70 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218401286 CA346191986 |
73 | Q>* | No |
ClinGen gnomAD |
|
|
rs1477407900 CA346191984 |
73 | Q>R | No |
ClinGen TOPMed |
|
|
rs746340626 CA1576474 |
74 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1576473 rs779305663 |
75 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1233281897 CA346191967 CA346191968 |
75 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1576472 rs757295034 |
76 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1576471 rs749324015 |
77 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426807272 CA346191956 |
78 | R>G | No |
ClinGen TOPMed |
|
|
rs1222816698 CA346191952 |
78 | R>I | No |
ClinGen gnomAD |
|
|
CA346191946 rs1340955507 |
79 | L>P | No |
ClinGen gnomAD |
|
|
rs374600870 CA346191927 |
82 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757621159 CA1576469 |
82 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757621159 CA1576468 |
82 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs374600870 CA1576470 |
82 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA44491164 rs770645031 |
84 | L>I | No |
ClinGen Ensembl |
|
|
CA44491163 rs138970678 |
85 | S>P | No |
ClinGen ESP |
|
|
rs1397085676 CA346191890 |
86 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346191888 rs1425162391 |
87 | E>Q | No |
ClinGen gnomAD |
|
|
rs377215247 CA346191875 CA1576443 |
88 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346191868 rs1182395533 |
89 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 89 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44491149 rs999602808 |
90 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1576442 rs760191929 |
90 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346191865 rs1572577492 |
90 | K>T | No |
ClinGen Ensembl |
|
|
CA1576439 rs759295330 |
92 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1576438 rs774560559 |
92 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs771370270 CA1576437 |
95 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1576436 rs749707012 |
97 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs143065855 CA1576434 |
99 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150295282 CA1576433 |
100 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369771370 CA346191800 |
101 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369771370 CA1576431 |
101 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1576432 rs746816301 |
101 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747293715 CA1576430 |
106 | R>K | No |
ClinGen ExAC |
|
|
rs778530486 CA1576429 |
107 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1019652 CA346191760 rs1472725772 |
108 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA346191758 rs1459147184 |
108 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346191757 rs1459147184 |
108 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 110 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346191743 rs1382950176 |
110 | G>D | No |
ClinGen gnomAD |
|
|
rs1382950176 CA346191745 |
110 | G>V | No |
ClinGen gnomAD |
|
|
CA1576428 rs757098913 |
111 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA346191742 rs1387235842 |
111 | P>T | No |
ClinGen TOPMed |
|
|
CA1576426 rs147844847 |
112 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1021977424 CA44491070 |
113 | R>M | No |
ClinGen Ensembl |
|
|
CA1576425 rs756111010 |
114 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 116 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346191697 rs1256102959 |
118 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1576424 rs752194157 |
120 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs375557112 CA1576422 |
122 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1576421 rs751259290 |
124 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576420 rs766591700 |
126 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs147615647 CA1576419 |
128 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281328445 CA346191621 |
130 | D>E | No |
ClinGen gnomAD |
|
|
CA346191628 rs1308807029 |
130 | D>N | No |
ClinGen gnomAD |
|
|
CA1576418 rs144309129 |
131 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237572852 CA346191616 |
131 | Q>R | No |
ClinGen gnomAD |
|
|
CA346191609 rs1324637604 |
132 | S>C | No |
ClinGen gnomAD |
|
|
rs1285876231 CA346191595 |
134 | P>L | No |
ClinGen TOPMed |
|
|
CA44491020 rs201842020 |
134 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1363334835 CA346191594 |
135 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346191577 rs1489041792 |
137 | T>N | No |
ClinGen TOPMed |
|
|
CA346191578 rs1489041792 |
137 | T>S | No |
ClinGen TOPMed |
|
|
CA1576415 rs575307820 |
138 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346191567 rs1378077741 |
139 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346191570 rs1469584968 |
139 | M>V | No |
ClinGen gnomAD |
|
|
rs747153015 CA1576413 |
141 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346191536 rs1188925392 |
144 | G>R | No |
ClinGen TOPMed |
|
|
CA1576412 rs780337619 |
145 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1488720397 CA346191474 |
152 | L>M | No |
ClinGen gnomAD |
|
|
CA1576409 rs777607074 |
154 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA346191429 rs1572577242 |
156 | L>F | No |
ClinGen Ensembl |
|
|
CA346191437 rs1350602267 |
156 | L>M | No |
ClinGen gnomAD |
|
|
CA1576406 rs780530894 |
158 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437948769 CA346191386 |
160 | L>P | No |
ClinGen TOPMed |
|
|
CA1576405 rs754527284 |
160 | L>V | No |
ClinGen ExAC |
|
|
CA1576404 rs368126288 |
162 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987645796 CA346191367 |
162 | R>P | No |
ClinGen TOPMed |
|
|
rs987645796 CA44490943 |
162 | R>Q | No |
ClinGen TOPMed |
|
|
rs368126288 CA346191369 |
162 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362011034 CA346191346 |
164 | E>V | No |
ClinGen gnomAD |
|
|
rs1401312940 CA346191325 |
166 | Q>L | No |
ClinGen TOPMed |
|
|
rs1558620127 CA346191310 |
168 | P>A | No |
ClinGen Ensembl |
|
|
CA1576402 rs762747999 |
172 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479404675 CA346191247 |
174 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs765737400 CA346191225 |
175 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762368250 CA1576399 |
176 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1478281754 CA346191214 |
176 | E>D | No |
ClinGen gnomAD |
|
|
CA346191211 rs1572577138 |
177 | T>P | No |
ClinGen Ensembl |
|
|
rs1309290824 CA346191199 |
178 | P>S | No |
ClinGen TOPMed |
|
|
CA346191187 rs1243998710 |
179 | S>Y | No |
ClinGen gnomAD |
|
|
CA346191178 rs1446564500 |
180 | G>A | No |
ClinGen gnomAD |
|
|
CA1576398 rs777216494 |
180 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1576397 rs768563502 |
182 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA44490845 rs940671067 |
182 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1206175945 CA346191145 |
184 | R>C | No |
ClinGen gnomAD |
|
|
CA1576396 rs760814868 |
184 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1558620040 CA346191135 |
185 | R>Q | No |
ClinGen Ensembl |
|
|
rs775501146 CA1576395 |
186 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs139548233 CA1576394 |
186 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1576393 rs746142641 |
186 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375008985 CA1576392 |
190 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746959098 CA1576370 |
192 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1481891254 CA346191021 |
193 | L>V | No |
ClinGen gnomAD |
|
|
CA346190997 rs1204201995 |
195 | L>F | No |
ClinGen gnomAD |
|
|
rs1442989128 CA346190985 |
196 | Q>H | No |
ClinGen TOPMed |
|
|
rs758003564 CA1576368 |
197 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA346190314 rs1293406429 |
199 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572576628 CA346190280 |
201 | E>G | No |
ClinGen Ensembl |
|
|
CA346190263 rs1243310636 |
202 | L>V | No |
ClinGen gnomAD |
|
|
rs764561281 CA1576367 |
204 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA346190197 rs1572576608 |
207 | P>S | No |
ClinGen Ensembl |
|
|
CA44490295 rs963528878 |
210 | V>L | No |
ClinGen TOPMed |
|
|
CA346190137 rs1297408473 |
211 | S>F | No |
ClinGen gnomAD |
|
|
rs1436849785 CA346190126 |
212 | C>S | No |
ClinGen gnomAD |
|
|
CA346190105 rs1218451887 |
213 | P>R | No |
ClinGen TOPMed |
|
|
CA1576366 rs778715329 |
213 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754217395 CA1576364 |
217 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs754217395 CA1576365 |
217 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1576363 rs575336288 |
218 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA346190012 rs575336288 |
218 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1159878064 CA346189999 |
219 | S>N | No |
ClinGen gnomAD |
|
|
rs1421417858 CA346189976 |
220 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346189973 rs1421417858 |
220 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1576359 rs201098112 |
224 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346189872 rs1196741069 |
224 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1576356 rs199745999 |
228 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768367303 CA1576354 |
228 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576355 rs199745999 |
228 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346189731 rs992598814 |
230 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs992598814 CA44490215 |
230 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346189722 rs1430515830 |
231 | A>P | No |
ClinGen TOPMed |
|
|
CA1576351 rs771642882 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1558619598 CA346189531 |
238 | E>G | No |
ClinGen Ensembl |
|
|
CA44490198 rs141109517 |
243 | P>R | No |
ClinGen ESP |
|
|
CA1576350 rs758668541 |
243 | P>S | No |
ClinGen ExAC |
|
|
CA346189397 rs770595929 |
244 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576347 rs201969569 |
244 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1576348 COSM1195377 rs770595929 |
244 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1576346 rs778163329 |
246 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756459951 CA1576345 |
248 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756459951 CA346189252 |
248 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303974989 CA346189189 |
250 | L>F | No |
ClinGen TOPMed |
|
|
CA1576344 rs753193125 |
250 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781660703 CA1576343 |
251 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346189036 rs146067318 |
257 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146067318 CA1576342 |
257 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995562564 CA44490126 |
257 | V>M | No |
ClinGen TOPMed |
|
|
rs1187901769 CA346188914 |
261 | E>K | No |
ClinGen gnomAD |
|
|
CA1576339 rs750632837 |
262 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750632837 CA1576338 |
262 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576340 rs766482590 |
262 | G>S | No |
ClinGen ExAC |
|
|
rs1210782160 CA346188842 |
263 | P>L | No |
ClinGen gnomAD |
|
|
CA346188765 rs1325547335 |
266 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346188769 rs1325547335 |
266 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763889821 CA1576337 |
267 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44490047 rs1015753538 |
267 | S>L | No |
ClinGen TOPMed |
|
|
rs763889821 CA346188750 |
267 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346188718 rs1296640436 |
268 | S>P | No |
ClinGen gnomAD |
|
|
CA1576335 rs775493732 |
269 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360013800 CA346188665 |
270 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772123296 CA1576334 |
273 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA44490036 rs1051418954 |
276 | R>Q | No |
ClinGen TOPMed |
|
|
CA346188497 rs1169724342 |
277 | S>I | No |
ClinGen TOPMed |
|
|
rs1169724342 CA346188495 |
277 | S>N | No |
ClinGen TOPMed |
|
|
rs1558619440 CA346188404 |
280 | R>* | No |
ClinGen Ensembl |
|
|
rs770382674 CA1576331 |
280 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1576330 CA346188390 rs748926188 |
281 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA44490025 rs935081713 |
283 | T>S | No |
ClinGen gnomAD |
|
|
rs867771946 CA44483925 |
288 | K>R | No |
ClinGen Ensembl |
|
|
CA346186487 rs867771946 |
288 | K>T | No |
ClinGen Ensembl |
|
|
CA1576314 rs774456773 |
290 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346186452 rs1452349281 |
291 | C>Y | No |
ClinGen TOPMed |
|
|
rs765860083 CA1576313 |
292 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762377663 CA1576312 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346186434 rs772833375 |
294 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1576311 rs772833375 |
294 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs946722036 CA44483897 |
296 | P>S | No |
ClinGen Ensembl |
|
|
CA1576310 rs368196530 |
297 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309625924 CA346186391 |
298 | G>A | No |
ClinGen gnomAD |
|
|
CA346186399 rs1436544835 |
298 | G>S | No |
ClinGen TOPMed |
|
|
rs17855487 CA44483841 |
301 | N>D | No |
ClinGen Ensembl |
|
|
CA44483830 rs1015373401 |
304 | M>K | No |
ClinGen TOPMed |
|
|
rs200324700 CA1576308 |
304 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346186308 rs1303437592 |
305 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1363209660 CA346186258 |
308 | W>G | No |
ClinGen gnomAD |
|
|
CA346186209 rs1162330574 |
310 | C>G | No |
ClinGen gnomAD |
|
|
CA1576306 rs747457072 |
311 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346186185 rs1303193413 |
312 | H>Q | No |
ClinGen TOPMed |
|
|
CA1576305 rs780428734 |
312 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202111307 CA44483814 |
312 | H>Y | No |
ClinGen Ensembl |
|
|
rs759008988 CA1576304 |
313 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA44483807 rs986594928 |
314 | T>S | No |
ClinGen TOPMed |
|
|
CA346186095 rs1418343830 |
316 | D>G | No |
ClinGen gnomAD |
|
|
rs1223555893 CA346186077 |
317 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1558616982 CA346185758 |
324 | Y>F | No |
ClinGen Ensembl |
|
|
rs200400208 CA44483389 |
325 | W>L | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206119025 CA346185675 |
328 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA44483384 rs553523895 |
334 | A>T | No |
ClinGen 1000Genomes |
|
|
rs764668680 CA1576273 |
335 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 337 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370266775 CA1576272 |
339 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1576271 rs377473751 |
341 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346185334 rs1429314044 |
344 | E>G | No |
ClinGen gnomAD |
|
|
rs757242732 CA1576249 |
345 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1576247 rs763634070 COSM184385 |
346 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 348 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346185268 rs1572571306 |
348 | Y>S | No |
ClinGen Ensembl |
|
|
rs1478808041 CA346185231 |
350 | P>S | No |
ClinGen TOPMed |
|
|
rs892549451 CA44483103 |
351 | Q>R | No |
ClinGen Ensembl |
|
| rs1558616827 | 353 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346185165 rs1558616823 |
354 | K>Q | No |
ClinGen Ensembl |
|
|
rs1572571258 CA346185066 |
359 | S>C | No |
ClinGen Ensembl |
|
|
rs774927122 CA1576242 |
362 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369941156 CA1576241 |
366 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1576240 rs763591379 |
370 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs763591379 CA346184879 |
370 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs377289781 CA1576239 |
371 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377289781 CA1576238 |
371 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346184518 rs1433532077 |
381 | T>I | No |
ClinGen gnomAD |
|
|
rs201476077 CA1576220 |
384 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448638795 CA346184410 |
385 | E>D | No |
ClinGen TOPMed |
|
|
rs954981904 CA44482531 |
385 | E>K | No |
ClinGen Ensembl |
|
|
CA346184388 rs776630646 |
386 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776630646 CA1576219 |
386 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA346184271 rs1331992141 |
389 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44482480 rs372672191 |
393 | T>A | No |
ClinGen ESP |
|
|
rs1432204151 CA346184095 |
393 | T>M | No |
ClinGen gnomAD |
|
|
rs749167045 CA1576214 |
396 | P>L | No |
ClinGen ExAC |
|
| TCGA novel | 396 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44482458 rs868340704 |
401 | D>Y | No |
ClinGen Ensembl |
|
|
CA346183806 rs1462524304 |
404 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 409 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346183663 rs1260986101 |
410 | G>A | No |
ClinGen gnomAD |
|
|
rs76217877 CA1576209 |
411 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780619173 CA1576210 |
411 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1576208 rs751274836 |
412 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346183547 rs1453967395 |
415 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346183543 rs1453967395 |
415 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs148054100 CA1576205 |
416 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs765758731 COSM3798907 CA1576204 |
419 | S>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762275607 CA1576203 |
420 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA346183395 rs1465246354 |
421 | P>S | No |
ClinGen gnomAD |
|
|
rs867118948 CA44482407 |
422 | D>G | No |
ClinGen Ensembl |
|
|
rs776740063 CA1576202 |
424 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172082926 CA346183243 |
428 | P>S | No |
ClinGen gnomAD |
|
|
rs1184173554 CA346183220 |
429 | L>P | No |
ClinGen gnomAD |
|
|
rs887021844 CA44482391 |
430 | S>N | No |
ClinGen Ensembl |
|
|
rs1446322243 CA346183177 |
431 | Q>E | No |
ClinGen gnomAD |
|
|
rs966847790 CA44482385 |
431 | Q>R | No |
ClinGen TOPMed |
|
|
CA346183148 rs1572570109 |
432 | L>I | No |
ClinGen Ensembl |
|
|
rs768291859 CA44482363 |
434 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1392842468 CA346183055 |
435 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772940405 CA1576196 |
441 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769753454 CA44482346 |
450 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346181667 rs963787925 |
453 | P>L | No |
ClinGen gnomAD |
|
|
CA44482135 rs963787925 |
453 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346181663 rs1156625693 |
454 | G>S | No |
ClinGen gnomAD |
|
|
CA1576169 rs746503488 |
455 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA346181618 rs1251448357 |
456 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779757513 CA1576168 |
457 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA346181535 rs1265317447 |
458 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 458 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44482115 rs925261268 |
458 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1576165 rs376923372 |
461 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270431136 CA346181362 |
465 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346181312 rs754306848 |
467 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs374053383 CA1576164 |
467 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283594488 CA346181277 |
469 | C>Y | No |
ClinGen gnomAD |
|
|
CA346181159 rs1572569717 |
472 | D>G | No |
ClinGen Ensembl |
|
|
rs148867164 CA1576161 |
473 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 481 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346180922 rs1386963568 |
482 | E>K | No |
ClinGen gnomAD |
|
|
CA1576160 rs752754270 |
483 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs752754270 CA346180895 |
483 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456560139 CA346180882 |
484 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1429704877 CA346180877 |
484 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA346180860 rs1177468973 |
485 | G>C | No |
ClinGen gnomAD |
|
|
CA1576159 rs369577977 |
485 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44482092 rs200245997 |
486 | T>I | No |
ClinGen gnomAD |
|
|
CA1576157 rs751738990 |
487 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1576155 rs138945954 |
488 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1576156 rs200528231 |
488 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413602220 CA346180609 |
491 | P>L | No |
ClinGen gnomAD |
|
|
CA1576145 rs778163893 |
494 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA44481882 rs950714957 |
496 | L>M | No |
ClinGen gnomAD |
|
|
CA346180383 rs1429692085 |
500 | A>V | No |
ClinGen gnomAD |
|
|
CA346180252 rs1472041710 |
504 | S>A | No |
ClinGen gnomAD |
|
|
rs865963184 CA346180197 |
506 | G>R | No |
ClinGen gnomAD |
|
|
rs865963184 CA44481868 |
506 | G>W | No |
ClinGen gnomAD |
|
|
rs868665153 CA44481847 |
511 | F>L | No |
ClinGen Ensembl |
|
|
CA1576142 rs781186760 |
512 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA346179811 rs1276376865 |
516 | P>S | No |
ClinGen TOPMed |
|
|
rs751725886 CA1576140 |
518 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA44481831 rs771818393 |
520 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576138 rs771818393 |
520 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346179574 rs1352496785 |
524 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1352496785 CA346179570 |
524 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1410692106 CA346179575 |
524 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760640500 CA1576135 |
525 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760640500 CA1576136 |
525 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1690327 rs1306266659 CA346179567 |
525 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA346178644 rs1485441780 |
529 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1386662786 CA346178628 |
530 | P>S | No |
ClinGen TOPMed |
|
|
CA1576097 rs779273684 |
535 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346178231 rs1249872940 |
536 | Q>H | No |
ClinGen gnomAD |
|
|
CA346178228 rs1307768958 |
537 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 539 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757613008 CA1576096 |
540 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346178086 rs1352591985 |
542 | Q>H | No |
ClinGen TOPMed |
|
|
rs752519823 CA1576095 |
543 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375837098 CA1576093 |
546 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1330220934 CA346177958 |
546 | M>T | No |
ClinGen gnomAD |
|
|
CA1576092 rs375837098 |
546 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1576091 rs765753079 |
550 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762442496 CA1576090 |
551 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs762442496 CA346177845 |
551 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 553 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346177779 rs1323593857 |
553 | E>D | No |
ClinGen gnomAD |
|
|
CA346177584 rs1436744596 |
558 | L>R | No |
ClinGen gnomAD |
|
|
rs761491613 CA1576087 |
558 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1485214599 CA346177478 |
562 | W>* | No |
ClinGen Ensembl |
|
|
rs867978987 CA44480305 |
562 | W>R | No |
ClinGen Ensembl |
|
|
rs1457625702 CA346177387 |
564 | P>L | No |
ClinGen gnomAD |
|
|
rs1195919003 CA346177351 |
566 | R>G | No |
ClinGen TOPMed |
|
|
rs570796218 CA1576083 CA1576084 |
566 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1576082 rs772521770 |
569 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199586751 CA346177186 |
571 | L>V | No |
ClinGen gnomAD |
|
|
CA346177118 rs1198156030 |
573 | A>V | No |
ClinGen TOPMed |
|
|
CA346176973 rs1434975697 |
577 | N>S | No |
ClinGen gnomAD |
|
|
CA346174987 rs1186758244 |
579 | M>K | No |
ClinGen gnomAD |
|
|
CA1576058 rs749451862 |
582 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769981496 CA1576056 |
586 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1576052 rs144790568 |
593 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1576054 rs758285292 |
593 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346174608 rs573699100 |
595 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM71002 CA1576050 rs573699100 |
595 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs544220164 CA1576051 COSM1407424 |
595 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1392462673 CA346174550 |
598 | D>G | No |
ClinGen TOPMed |
|
|
rs753347705 CA1576049 |
598 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1576048 rs763797102 |
600 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1576047 rs755761840 |
601 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346174357 rs1343658669 |
604 | Y>C | No |
ClinGen gnomAD |
|
|
CA346174352 rs1343658669 |
604 | Y>F | No |
ClinGen gnomAD |
|
|
CA1576046 rs753082569 |
604 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA346174359 rs1343658669 |
604 | Y>S | No |
ClinGen gnomAD |
|
|
CA346174326 rs1572563177 |
605 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 606 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760078139 CA44477149 |
610 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760078139 CA1576044 |
610 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346174006 rs1333579556 |
617 | R>C | No |
ClinGen TOPMed |
|
|
rs763088522 CA1576041 |
617 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA44477143 rs764005582 |
618 | T>I | No |
ClinGen Ensembl |
|
|
CA44477139 rs775287186 |
625 | N>D | No |
ClinGen Ensembl |
|
|
rs201499584 CA1576015 |
628 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 628 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346173465 rs1572562980 |
629 | L>F | No |
ClinGen Ensembl |
|
|
rs1219254541 CA346173380 |
632 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346173340 rs1467902737 |
634 | S>G | No |
ClinGen gnomAD |
|
|
CA346173334 rs1268486729 |
634 | S>N | No |
ClinGen gnomAD |
|
|
rs1347907551 CA346173233 |
636 | R>Q | No |
ClinGen TOPMed |
|
|
CA346173236 rs1331417569 |
636 | R>W | No |
ClinGen gnomAD |
|
|
CA44477009 rs568136490 |
638 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs747775019 CA1576011 |
645 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1576010 rs780974234 |
645 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219190287 CA346172937 |
646 | P>S | No |
ClinGen TOPMed |
|
|
CA346172906 rs1442287161 |
647 | Y>H | No |
ClinGen TOPMed |
|
|
CA1576008 COSM1019641 rs751953553 |
648 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1468639174 CA346172754 |
652 | S>C | No |
ClinGen TOPMed |
|
|
CA1576006 rs750901561 |
653 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576005 rs750901561 |
653 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576004 rs765304322 |
654 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA1576003 rs183210129 |
655 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 659 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 661 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191707476 CA346172540 |
661 | L>V | No |
ClinGen gnomAD |
|
|
CA346172387 rs1248429123 |
666 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753985250 CA1576002 |
667 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764269890 CA1576001 |
668 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346172283 rs1401428541 |
669 | G>S | No |
ClinGen TOPMed |
|
|
rs551596395 CA1575999 |
671 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1312875900 CA346172113 |
673 | A>V | No |
ClinGen gnomAD |
|
|
CA346171303 CA346171305 rs1804410 |
690 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773122378 CA1575972 |
691 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 699 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346171085 rs1165136798 |
700 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 704 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459392916 CA346170901 |
708 | V>A | No |
ClinGen TOPMed |
|
|
COSM1483033 rs1186051404 CA346170918 |
708 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376138995 CA1575947 |
710 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761777591 CA1575946 |
715 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761777591 CA346170612 |
715 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 718 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572562264 CA346170534 |
719 | T>A | No |
ClinGen Ensembl |
|
|
CA1575945 rs776726954 |
720 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1324910959 CA346170459 |
721 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764186680 CA1575944 |
724 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs148236425 CA1575943 |
725 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA44476463 rs1005744762 |
725 | I>T | No |
ClinGen TOPMed |
|
|
CA1575942 rs775105903 |
726 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 731 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 731 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 732 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749736567 CA1575937 |
733 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1575938 rs540058222 |
733 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs993533274 CA44476436 |
736 | D>E | No |
ClinGen Ensembl |
|
|
rs1465617746 CA346170081 |
736 | D>H | No |
ClinGen gnomAD |
|
|
rs41288825 CA44476418 |
737 | M>T | No |
ClinGen ESP |
|
|
rs756678928 CA1575935 |
742 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1202973380 CA346169896 |
742 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756678928 CA1575936 |
742 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 746 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 750 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346169502 rs1291562023 |
753 | P>R | No |
ClinGen TOPMed |
|
|
CA44476246 rs1026402879 |
753 | P>S | No |
ClinGen Ensembl |
|
|
rs1362056178 CA346169487 |
754 | I>V | No |
ClinGen TOPMed |
|
|
CA44476225 rs755964710 |
761 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755964710 CA1575909 |
761 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346169324 rs1256131880 |
761 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 761 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1575907 rs201857389 |
765 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1575906 rs201857389 |
765 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA346169172 rs1294178177 |
766 | P>R | No |
ClinGen gnomAD |
|
|
rs751094396 CA1575905 |
767 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs993957724 CA44476220 |
767 | E>Q | No |
ClinGen Ensembl |
|
|
CA346169043 rs1292689836 |
771 | H>R | No |
ClinGen gnomAD |
|
|
CA346169004 rs762639747 |
772 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1575903 rs762639747 |
772 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346168967 rs773513853 |
774 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907248906 CA44476208 |
774 | A>T | No |
ClinGen TOPMed |
|
|
rs773513853 CA1575901 |
774 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395638205 CA346168943 |
775 | S>L | No |
ClinGen gnomAD |
|
|
CA44476204 rs144769462 |
776 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1575898 rs777185872 |
779 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA44476198 rs1013479727 |
780 | N>S | No |
ClinGen TOPMed |
|
|
CA1575896 rs143734531 |
781 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772372430 CA1575894 |
785 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746123007 CA1575893 |
785 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346168705 rs1215803537 |
789 | E>K | No |
ClinGen gnomAD |
|
|
rs777643601 CA1575892 |
792 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA346168563 rs1272780235 |
794 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 794 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1575891 rs755948070 |
795 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1278341223 CA346168397 |
801 | T>I | No |
ClinGen gnomAD |
|
|
CA1575889 rs781182085 |
803 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 804 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486025909 CA346166978 |
804 | G>S | No |
ClinGen gnomAD |
|
|
rs746976365 CA1575863 |
805 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA44475648 rs897450884 |
807 | H>R | No |
ClinGen Ensembl |
|
|
CA1575861 rs757892836 |
808 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA346166912 rs1347638453 |
808 | D>Y | No |
ClinGen gnomAD |
|
|
CA1575858 rs756909209 |
811 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756909209 CA346166848 |
811 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1575857 rs754184411 |
811 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764398552 CA1575855 |
813 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1575854 rs761196731 |
814 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1575853 rs374386568 |
815 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs925442939 CA44475615 |
817 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1575852 rs768196570 |
817 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1193174482 CA346166678 |
818 | M>I | No |
ClinGen gnomAD |
|
|
CA1575851 rs759683401 |
818 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA44475596 rs140952529 |
819 | Q>R | No |
ClinGen ESP |
|
|
CA1575849 rs771157977 |
821 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771157977 CA1575850 |
821 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195414330 CA346166519 |
823 | G>E | No |
ClinGen TOPMed |
|
|
rs1337752930 CA346166527 |
823 | G>R | No |
ClinGen TOPMed |
|
|
CA346166467 rs1259646278 |
824 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1483171840 CA346166394 |
826 | Q>H | No |
ClinGen gnomAD |
|
|
rs1196682094 CA346166368 |
827 | L>P | No |
ClinGen TOPMed |
|
|
CA44475578 rs1055875732 |
828 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 831 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776444108 CA1575847 |
831 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1306106237 CA346166202 |
833 | Q>H | No |
ClinGen gnomAD |
|
|
rs746866571 CA1575845 |
837 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346166128 rs1233485103 |
838 | H>D | No |
ClinGen gnomAD |
|
| TCGA novel | 838 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755871058 CA1575813 |
841 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346165865 rs1322952115 |
841 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 844 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1575812 rs753085863 |
848 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs781703987 CA1575811 |
849 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346165610 rs1208827900 |
853 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346165588 rs1350789712 |
854 | S>F | No |
ClinGen gnomAD |
|
|
rs1261910437 CA346165551 |
857 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 862 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1575809 rs373008992 |
866 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44475193 rs976738421 |
867 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766970414 CA1575808 |
867 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766970414 CA346165349 |
867 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1575807 rs762940062 |
869 | L>F | No |
ClinGen ExAC |
|
|
rs765427783 CA1575805 |
870 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346165280 rs1394366142 |
870 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 871 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775225951 CA1575803 |
872 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767306443 CA1575802 |
873 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA1575801 rs759461209 |
873 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1575799 rs770965884 |
876 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911830931 CA44475114 COSM1407421 |
876 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA346165149 rs1455877781 |
877 | M>I | No |
ClinGen gnomAD |
|
|
rs147156644 CA1575798 |
878 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1575797 rs772827211 |
879 | L>F | No |
ClinGen ExAC |
|
|
CA346165094 rs1407054580 |
879 | L>P | No |
ClinGen TOPMed |
|
|
rs1197740227 CA346165014 |
882 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1575796 rs769518542 |
882 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346164990 rs1372340632 |
884 | H>R | No |
ClinGen TOPMed |
|
|
rs1459930329 CA346164916 |
886 | N>K | No |
ClinGen gnomAD |
|
|
CA1575793 rs144448178 |
886 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236358827 CA346164862 |
888 | M>I | No |
ClinGen gnomAD |
|
|
CA1575791 rs780396358 |
888 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1575792 rs747477056 |
888 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM184378 rs1345499152 CA346164855 |
889 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
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CA1575789 rs750421174 |
893 | S>T | No |
ClinGen ExAC gnomAD |
|
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rs1327319274 CA346164724 |
894 | P>H | No |
ClinGen TOPMed gnomAD |
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CA346164722 rs1327319274 |
894 | P>R | No |
ClinGen TOPMed gnomAD |
|
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CA346164653 rs1250042494 |
896 | R>G | No |
ClinGen TOPMed |
|
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CA1575785 rs374655370 |
897 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
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CA346164606 rs374655370 |
897 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
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CA1575784 COSM1019636 rs374655370 |
897 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
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CA1575786 rs138644187 |
897 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
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CA1575783 rs774241650 |
898 | P>R | No |
ClinGen ExAC gnomAD |
|
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rs1178292839 CA346164592 |
898 | P>T | No |
ClinGen TOPMed |
|
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rs766202890 CA1575782 |
899 | G>S | No |
ClinGen ExAC gnomAD |
|
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rs1572560026 CA346164552 |
900 | F>L | No |
ClinGen Ensembl |
|
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rs1172426528 CA346164522 |
901 | S>F | No |
ClinGen gnomAD |
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rs369412955 CA1575781 |
903 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
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rs1374486033 CA346164458 |
903 | T>I | No |
ClinGen gnomAD |
|
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CA1575780 rs772804342 |
904 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1575779 rs376505721 |
904 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
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rs376505721 CA1575778 |
904 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
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rs768397410 CA1575776 |
905 | H>R | No |
ClinGen ExAC gnomAD |
|
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CA44474988 rs371595443 |
905 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
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rs187695337 CA1575775 |
906 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
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CA346164380 rs1196204603 |
906 | R>H | No |
ClinGen gnomAD |
|
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CA346164362 rs1272170762 |
907 | L>F | No |
ClinGen gnomAD |
|
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rs1216990137 CA346164359 |
907 | L>R | No |
ClinGen gnomAD |
|
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CA44474972 rs961551574 |
909 | P>S | No |
ClinGen TOPMed |
|
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CA1575773 rs758792957 |
910 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
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CA1575772 rs746391591 |
911 | P>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8WUA4
5 regional properties for Q8WUA4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 456 - 512 | IPR001680-1 |
| repeat | WD40 repeat | 534 - 584 | IPR001680-2 |
| repeat | WD40 repeat | 602 - 644 | IPR001680-3 |
| repeat | WD40 repeat | 825 - 865 | IPR001680-4 |
| conserved_site | WD40 repeat, conserved site | 629 - 643 | IPR019775 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
3 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. |
| 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 |
|---|---|---|---|---|
| Q8BL74 | Gtf3c2 | General transcription factor 3C polypeptide 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDTCGVGYVA | LGEAGPVGNM | TVVDSPGQEV | LNQLDVKTSS | EMTSAEASVE | MSLPTPLPGF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDSPDQRRLP | PEQESLSRLE | QPDLSSEMSK | VSKPRASKPG | RKRGGRTRKG | PKRPQQPNPP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAPLVPGLLD | QSNPLSTPMP | KKRGRKSKAE | LLLLKLSKDL | DRPESQSPKR | PPEDFETPSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERPRRRAAQV | ALLYLQELAE | ELSTALPAPV | SCPEGPKVSS | PTKPKKIRQP | AACPGGEEVD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GAPRDEDFFL | QVEAEDVEES | EGPSESSSEP | EPVVPRSTPR | GSTSGKQKPH | CRGMAPNGLP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NHIMAPVWKC | LHLTKDFREQ | KHSYWEFAEW | IPLAWKWHLL | SELEAAPYLP | QEEKSPLFSV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QREGLPEDGT | LYRINRFSSI | TAHPERWDVS | FFTGGPLWAL | DWCPVPEGAG | ASQYVALFSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PDMNETHPLS | QLHSGPGLLQ | LWGLGTLQQE | SCPGNRAHFV | YGIACDNGCI | WDLKFCPSGA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| WELPGTPRKA | PLLPRLGLLA | LACSDGKVLL | FSLPHPEALL | AQQPPDAVKP | AIYKVQCVAT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LQVGSMQATD | PSECGQCLSL | AWMPTRPHQH | LAAGYYNGMV | VFWNLPTNSP | LQRIRLSDGS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LKLYPFQCFL | AHDQAVRTLQ | WCKANSHFLV | SAGSDRKIKF | WDLRRPYEPI | NSIKRFLSTE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LAWLLPYNGV | TVAQDNCYAS | YGLCGIHYID | AGYLGFKAYF | TAPRKGTVWS | LSGSDWLGTI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AAGDISGELI | AAILPDMALN | PINVKRPVER | RFPIYKADLI | PYQDSPEGPD | HSSASSGVPN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PPKARTYTET | VNHHYLLFQD | TDLGSFHDLL | RREPMLRMQE | GEGHSQLCLD | RLQLEAIHKV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RFSPNLDSYG | WLVSGGQSGL | VRIHFVRGLA | SPLGHRMQLE | SRAHFNAMFQ | PSSPTRRPGF |
| 910 | |||||
| SPTSHRLLPT | P |