Q9H4Z3
Gene name |
PCIF1 |
Protein name |
mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase |
Names |
Cap-specific adenosine methyltransferase, CAPAM, hCAPAM, Phosphorylated CTD-interacting factor 1, hPCIF1, Protein phosphatase 1 regulatory subunit 121 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:63935 |
EC number |
2.1.1.62: Methyltransferases |
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 Q9H4Z3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2JX8 | NMR | - | A | 40-86 | PDB |
| 6IRV | X-ray | 270 A | A/B | 174-672 | PDB |
| 6IRW | X-ray | 290 A | A/B | 174-672 | PDB |
| AF-Q9H4Z3-F1 | Predicted | AlphaFoldDB |
491 variants for Q9H4Z3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1455639158 CA409213564 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA409213567 rs1194343287 |
3 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9884070 rs775884705 |
3 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 4 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438088074 CA409213632 |
6 | H>N | No |
ClinGen gnomAD |
|
|
CA9884072 rs769186115 |
7 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409213687 rs1198784331 |
8 | S>I | No |
ClinGen TOPMed |
|
|
rs201439678 CA9884074 CA409213690 |
8 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914610981 CA315632552 |
9 | P>S | No |
ClinGen Ensembl |
|
|
CA9884076 rs530025799 |
10 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA315632563 rs979221783 |
10 | R>P | No |
ClinGen gnomAD |
|
|
CA409213719 rs979221783 |
10 | R>Q | No |
ClinGen gnomAD |
|
|
rs530025799 CA9884075 |
10 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9884078 rs763290934 |
11 | E>Q | No |
ClinGen ExAC |
|
|
rs1202358951 CA409213788 |
13 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 14 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884080 rs200252509 |
16 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9884082 rs148051478 |
17 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753323794 CA9884083 |
18 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs778545268 CA9884085 |
18 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9884084 rs753323794 |
18 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9884088 rs780358533 |
24 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141989652 CA9884089 |
24 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409214057 rs1171308250 |
27 | Q>E | No |
ClinGen gnomAD |
|
|
CA9884090 rs769097763 |
27 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777123317 CA9884091 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1056183112 CA315632636 |
29 | C>R | No |
ClinGen Ensembl |
|
|
CA9884092 rs762446521 |
31 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9884094 rs773388891 |
34 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs147107115 CA9884093 |
34 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884095 rs763052845 |
35 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884096 rs767144550 |
35 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315632666 rs767144550 |
35 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409214235 rs767144550 |
35 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752490933 CA9884097 |
38 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409214289 rs1443811701 |
38 | Q>H | No |
ClinGen gnomAD |
|
|
CA9884098 rs371070082 |
41 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375497874 CA9884119 |
42 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199747773 CA315632814 |
46 | H>L | No |
ClinGen 1000Genomes |
|
|
rs199747773 CA315632798 |
46 | H>R | No |
ClinGen 1000Genomes |
|
|
CA409214600 rs1216358057 |
47 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9884121 rs147747748 |
50 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1259107205 CA409214706 |
51 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311720181 CA409214761 |
53 | W>L | No |
ClinGen gnomAD |
|
|
COSM1242638 rs1208251025 CA409214824 |
55 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA315632830 COSM3799589 rs531224212 |
59 | R>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1485871983 CA409214942 |
60 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9884123 rs749849155 |
62 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315632838 rs923767404 |
63 | F>Y | No |
ClinGen gnomAD |
|
|
rs988222969 CA315632849 |
64 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 65 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956634989 CA315632868 |
65 | R>Q | No |
ClinGen gnomAD |
|
|
rs781378398 CA9884128 CA409215389 |
74 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1175125872 CA409215402 |
75 | P>S | No |
ClinGen gnomAD |
|
|
rs749878103 CA9884132 |
76 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764558584 CA409215423 |
76 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764558584 CA9884131 |
76 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409215445 rs1343911614 |
77 | L>P | No |
ClinGen gnomAD |
|
|
rs1236582407 CA409215498 |
81 | D>N | No |
ClinGen TOPMed |
|
|
rs745971471 CA9884153 |
84 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs772130243 CA9884154 |
84 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9884155 rs780331537 |
91 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409216189 rs1479500254 |
94 | L>R | No |
ClinGen TOPMed |
|
|
rs1327023387 CA409216195 |
95 | P>R | No |
ClinGen gnomAD |
|
|
rs769615379 CA9884157 |
96 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568792182 CA409216210 |
97 | D>E | No |
ClinGen Ensembl |
|
|
rs1223523341 CA409216232 |
101 | V>M | No |
ClinGen TOPMed |
|
|
rs976362831 CA315633802 |
102 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs377164917 CA315633825 |
103 | T>N | No |
ClinGen ESP TOPMed |
|
|
rs777519257 CA9884159 |
103 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273801369 CA409216253 |
104 | P>H | No |
ClinGen gnomAD |
|
|
CA409216252 rs1273801369 |
104 | P>L | No |
ClinGen gnomAD |
|
|
CA409216260 rs1193575163 |
105 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9884160 rs770884917 |
108 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9884161 rs773800076 |
111 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA409216299 rs1237231691 |
111 | R>K | No |
ClinGen gnomAD |
|
|
CA9884162 rs188509769 |
113 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275804988 CA409216311 |
113 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs148361036 CA9884164 |
116 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884163 rs115906516 |
116 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297235902 CA409216346 |
118 | E>D | No |
ClinGen TOPMed |
|
|
CA409216340 rs1398859253 |
118 | E>K | No |
ClinGen gnomAD |
|
|
rs1410719400 CA409216363 |
121 | S>G | No |
ClinGen gnomAD |
|
|
rs1416463497 CA409216373 |
122 | G>D | No |
ClinGen gnomAD |
|
|
rs1353319988 CA409216370 |
122 | G>S | No |
ClinGen gnomAD |
|
|
CA9884166 rs764489815 |
123 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339772735 CA409216385 |
124 | G>C | No |
ClinGen gnomAD |
|
|
rs1252583151 CA409216389 |
125 | V>M | No |
ClinGen gnomAD |
|
|
CA409216399 rs1174201455 |
126 | K>R | No |
ClinGen TOPMed |
|
|
CA409216411 rs1339529960 |
128 | P>A | No |
ClinGen gnomAD |
|
|
CA409216418 rs1199504499 |
129 | K>E | No |
ClinGen gnomAD |
|
|
CA409216440 rs1308156442 |
130 | I>T | No |
ClinGen gnomAD |
|
|
rs778730135 CA9884199 |
130 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771936045 CA9884201 |
134 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs775018048 CA9884202 |
135 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1469916053 CA409216474 |
136 | P>S | No |
ClinGen gnomAD |
|
|
rs1194489027 CA409216481 |
137 | T>A | No |
ClinGen gnomAD |
|
|
rs45443494 CA9884204 |
137 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA315634111 rs917498104 |
139 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA409216497 rs1161051060 |
139 | Q>R | No |
ClinGen gnomAD |
|
|
CA9884206 rs761620079 |
140 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315634137 rs930604468 |
145 | P>S | No |
ClinGen TOPMed |
|
|
CA9884210 rs766815352 |
146 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs755015991 CA9884212 |
148 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs369147617 CA9884213 |
150 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369147617 CA9884214 |
150 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409216672 rs1296181752 |
151 | P>L | No |
ClinGen TOPMed |
|
|
rs778640382 CA315634173 |
152 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs367938445 CA9884217 |
152 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884216 rs778640382 |
152 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779862839 CA9884219 |
153 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747038061 CA9884220 |
155 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs144795164 CA9884222 |
159 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185708903 CA409216827 |
160 | P>L | No |
ClinGen gnomAD |
|
|
CA9884224 rs769598596 |
163 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371513868 CA9884225 |
169 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763238295 CA9884226 |
169 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs907941741 CA315634199 |
170 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9884253 rs766061514 |
174 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884255 rs199768942 |
175 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199768942 CA9884254 |
175 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884258 rs755682740 |
183 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs748870221 CA9884260 |
186 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884259 rs146019196 |
186 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9884261 rs574698419 |
187 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1024473250 CA315634432 |
189 | R>Q | No |
ClinGen gnomAD |
|
|
rs370069756 CA9884262 |
189 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438950855 CA409217596 |
190 | G>R | No |
ClinGen gnomAD |
|
|
rs972081381 CA315634433 |
193 | E>Q | No |
ClinGen gnomAD |
|
|
rs1222999981 CA409217765 |
197 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs541723930 CA9884265 |
198 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409217794 rs1215831482 |
199 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM368134 CA9884267 rs768592278 |
200 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 202 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195107800 CA409217855 |
202 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409217958 rs1176324013 |
206 | S>A | No |
ClinGen TOPMed |
|
|
rs960520541 CA315634443 |
208 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1402916554 CA409218126 |
213 | R>W | No |
ClinGen gnomAD |
|
|
CA409218145 rs1160612736 |
214 | Q>R | No |
ClinGen gnomAD |
|
|
rs774233890 CA9884271 |
215 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA315634448 rs141904891 |
217 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9884273 rs767488854 |
218 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA409218508 COSM1412111 rs1180325013 |
223 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA409218500 rs1180325013 |
223 | R>G | No |
ClinGen TOPMed |
|
|
CA9884274 rs752670637 |
224 | E>G | No |
ClinGen ExAC |
|
|
CA409219834 rs1193699686 |
230 | R>Q | No |
ClinGen gnomAD |
|
|
CA409219823 rs1338232741 |
230 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA409219983 rs1484201779 |
235 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 240 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409220184 rs1257370620 |
242 | V>L | No |
ClinGen gnomAD |
|
|
CA315637069 rs56007236 |
254 | N>S | No |
ClinGen Ensembl |
|
|
CA315637070 rs565847900 |
256 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA409220746 rs1440157415 |
257 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421934984 CA409220877 |
263 | M>T | No |
ClinGen gnomAD |
|
|
rs144543839 CA9884298 |
264 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9884299 rs750052866 |
265 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409220979 rs1373444161 |
265 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409221071 rs148464921 |
269 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868647350 CA315637100 |
272 | P>L | No |
ClinGen Ensembl |
|
| rs1334814143 | 273 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884316 rs764692730 |
276 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884317 rs376609010 |
277 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762540613 CA9884318 |
278 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA409221441 rs1350625696 |
280 | F>L | No |
ClinGen gnomAD |
|
|
rs1203933146 CA409221457 |
281 | R>Q | No |
ClinGen gnomAD |
|
|
CA9884320 rs751808254 |
282 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9884321 rs755368530 |
286 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA409221607 rs755368530 |
286 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs749402768 CA9884326 |
292 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 295 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884329 rs746131827 |
297 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884330 rs768473040 |
300 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9884344 rs757398067 |
303 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1415310936 CA409222055 |
303 | S>N | No |
ClinGen gnomAD |
|
|
CA9884345 rs778906689 |
303 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409222069 rs1169222709 |
304 | A>T | No |
ClinGen gnomAD |
|
|
rs1428167430 CA409222096 |
305 | S>Y | No |
ClinGen gnomAD |
|
|
rs868159177 CA315637441 |
306 | P>T | No |
ClinGen Ensembl |
|
|
CA409222150 rs758576575 |
307 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1371604700 CA409222180 |
308 | S>N | No |
ClinGen gnomAD |
|
|
rs1600507302 CA409222246 |
311 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409222256 rs1600507311 |
312 | V>G | No |
ClinGen Ensembl |
|
|
rs867140307 CA315637443 |
319 | T>N | No |
ClinGen Ensembl |
|
|
CA315637445 rs769531835 |
321 | S>C | No |
ClinGen Ensembl |
|
|
rs1381424104 CA409222541 |
323 | L>F | No |
ClinGen gnomAD |
|
|
rs1228976852 CA409222588 |
324 | R>W | No |
ClinGen gnomAD |
|
|
CA409222595 rs1295061768 |
325 | K>E | No |
ClinGen gnomAD |
|
|
CA9884348 rs780987596 |
326 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA315637461 rs368177657 |
327 | H>Q | No |
ClinGen Ensembl |
|
|
CA315637449 rs989746518 |
327 | H>Y | No |
ClinGen gnomAD |
|
|
CA315637465 rs867748130 |
328 | S>* | No |
ClinGen Ensembl |
|
|
CA315637471 rs994412496 |
335 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1164254120 CA409222849 |
335 | M>T | No |
ClinGen TOPMed |
|
|
CA409222835 rs994412496 |
335 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 337 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884370 rs770807664 |
338 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409224108 rs1330548775 |
339 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs773863031 CA9884371 |
340 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1038747056 CA315638086 |
342 | R>Q | No |
ClinGen Ensembl |
|
|
rs369406590 CA409224176 |
342 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884375 rs140261212 |
343 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478597916 CA409224198 |
344 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777163266 CA9884377 |
344 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1473583710 CA409224302 |
346 | G>S | No |
ClinGen gnomAD |
|
|
CA315638125 rs1043486085 |
349 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9884381 rs200586895 |
350 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409224473 rs1352289165 |
352 | A>T | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9884383 rs751760468 |
353 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755236165 CA9884384 |
354 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9884385 rs777505126 |
355 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1191212553 CA409224712 |
357 | V>A | No |
ClinGen TOPMed |
|
|
CA9884388 rs778720816 |
359 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA409224752 rs1250201815 |
359 | G>S | No |
ClinGen gnomAD |
|
|
CA409224894 rs111673733 |
364 | I>M | No |
ClinGen TOPMed |
|
|
rs1417237689 CA409224977 |
366 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768442102 CA9884393 |
372 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777073326 CA9884394 |
373 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748898720 COSM317858 CA9884395 |
374 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA409225139 rs1372233186 |
374 | R>W | No |
ClinGen gnomAD |
|
|
rs1312269387 CA409225171 |
375 | I>M | No |
ClinGen gnomAD |
|
|
CA409225177 COSM3799591 rs1370088899 |
376 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9884396 rs770264486 |
377 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225779553 CA409225360 |
384 | K>R | No |
ClinGen gnomAD |
|
|
CA409225428 rs1310186560 |
388 | I>V | No |
ClinGen TOPMed |
|
|
CA9884398 rs763566112 |
389 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA315638744 rs79267277 |
391 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884423 rs79267277 |
391 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764898733 CA9884425 |
392 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210144899 CA409225649 |
393 | E>G | No |
ClinGen TOPMed |
|
|
CA9884426 rs750251000 |
394 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766419767 CA9884428 |
395 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409225727 rs1328497512 |
397 | V>A | No |
ClinGen gnomAD |
|
|
rs1206924220 CA409225760 |
399 | P>S | No |
ClinGen gnomAD |
|
|
rs751610477 CA9884429 |
400 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs534457876 CA9884431 COSM254888 |
400 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534457876 CA9884430 |
400 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755824857 CA9884433 |
403 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs777951768 CA9884434 |
405 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9884435 rs749678896 |
407 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774835563 CA9884437 |
408 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771361221 CA9884436 |
408 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291495439 CA409225946 |
409 | L>V | No |
ClinGen gnomAD |
|
|
CA409225964 rs1388941075 |
410 | A>V | No |
ClinGen gnomAD |
|
|
CA315638782 rs979765623 |
411 | V>L | No |
ClinGen TOPMed |
|
|
CA409225965 rs979765623 |
411 | V>M | No |
ClinGen TOPMed |
|
|
CA315638790 rs956591168 |
412 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs373992911 CA9884440 |
414 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884439 rs772109061 |
414 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs971297584 CA315638818 |
416 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1194623575 CA409226064 |
416 | M>T | No |
ClinGen Ensembl |
|
|
rs1290263337 CA409226057 |
416 | M>V | No |
ClinGen gnomAD |
|
|
rs1244329405 CA409226071 |
417 | P>R | No |
ClinGen gnomAD |
|
|
rs1263910733 CA409226078 |
418 | S>G | No |
ClinGen gnomAD |
|
|
CA9884442 rs764387553 |
418 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762832749 CA9884444 |
419 | V>L | No |
ClinGen ExAC |
|
|
CA409226085 rs762832749 |
419 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1482015432 CA409226101 |
420 | E>Q | No |
ClinGen gnomAD |
|
|
COSM3799592 rs751523984 CA9884446 |
421 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA409226141 rs1184330769 |
422 | H>Q | No |
ClinGen gnomAD |
|
|
CA9884447 rs755008191 |
423 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752277469 CA9884449 |
427 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9884450 rs755665719 |
428 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA409226270 rs1459728948 |
429 | C>G | No |
ClinGen gnomAD |
|
|
CA9884451 rs777487332 |
429 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757606488 CA9884453 |
430 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746332694 CA9884455 |
431 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884454 rs779288740 |
431 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884457 rs775372767 |
432 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772588812 CA9884456 |
432 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181545356 CA409226382 |
434 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1482229586 CA409226368 |
434 | G>R | No |
ClinGen gnomAD |
|
|
rs1273625049 CA409226485 |
438 | K>N | No |
ClinGen gnomAD |
|
|
CA409226498 rs1339883894 |
439 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884458 rs747113490 |
441 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9884459 rs377028795 |
441 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884460 rs776895927 |
442 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315638839 rs1040982891 |
444 | F>L | No |
ClinGen TOPMed |
|
|
CA9884461 rs150279716 |
444 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755586125 CA315638847 |
445 | S>R | No |
ClinGen Ensembl |
|
|
rs1325855123 CA409226887 |
449 | L>F | No |
ClinGen TOPMed |
|
|
CA409226927 rs1437593130 |
450 | L>P | No |
ClinGen gnomAD |
|
|
rs775486529 CA9884486 |
452 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145800939 CA9884487 COSM1412113 |
452 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9884488 rs763618874 |
454 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1024591644 CA315638995 |
455 | C>S | No |
ClinGen Ensembl |
|
|
rs968994794 CA315638998 |
456 | I>T | No |
ClinGen gnomAD |
|
|
rs1312206535 CA409227057 |
456 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772557766 CA315639003 |
457 | D>A | No |
ClinGen Ensembl |
|
|
CA9884491 rs764873141 |
459 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 459 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409227150 rs1243042999 |
460 | A>T | No |
ClinGen gnomAD |
|
|
CA9884492 rs750139303 |
462 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315639016 rs866453872 |
463 | R>K | No |
ClinGen Ensembl |
|
|
CA409227264 rs1427893672 |
464 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158475249 CA409227349 |
467 | R>Q | No |
ClinGen gnomAD |
|
|
rs1480781914 CA409227334 |
467 | R>W | No |
ClinGen gnomAD |
|
|
rs375088936 CA409227354 |
468 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375088936 CA9884495 |
468 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA315639024 rs372740628 COSM1219732 |
473 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP |
|
rs748255307 CA9884498 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884499 rs770075127 |
474 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143690590 CA9884522 |
477 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600509773 CA409227792 |
478 | M>I | No |
ClinGen Ensembl |
|
|
rs921273704 CA315639134 |
478 | M>T | No |
ClinGen gnomAD |
|
|
CA9884524 rs369393661 |
481 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484051183 CA409227906 |
482 | G>A | No |
ClinGen gnomAD |
|
|
CA409227952 rs1182665985 |
484 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA315639150 rs11551743 |
485 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs11551743 CA315639148 |
485 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1446497234 CA409228046 |
487 | T>S | No |
ClinGen TOPMed |
|
|
rs1471920675 CA409228094 |
489 | L>V | No |
ClinGen gnomAD |
|
|
CA409228167 rs1183877160 |
491 | G>V | No |
ClinGen gnomAD |
|
|
rs769259496 CA9884527 |
495 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409228300 rs1372363007 |
496 | H>R | No |
ClinGen gnomAD |
|
|
rs556636968 CA9884528 |
497 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140304055 CA9884529 |
499 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA315639172 rs939440557 |
499 | E>V | No |
ClinGen TOPMed |
|
|
CA9884530 rs765965052 |
503 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315639174 rs1055727696 |
504 | L>H | No |
ClinGen TOPMed |
|
|
rs1362436145 CA409228587 |
506 | G>D | No |
ClinGen TOPMed |
|
|
rs1001133934 CA315639186 |
507 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1027342 CA409228750 rs1600509898 |
513 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1350449154 CA409228776 |
515 | P>S | No |
ClinGen TOPMed |
|
|
CA9884536 rs764219475 |
516 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764219475 CA409228786 |
516 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884539 rs778998408 |
521 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1186407407 CA409228858 |
521 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA315639201 rs747472122 |
526 | A>V | No |
ClinGen Ensembl |
|
|
CA409228932 rs1171990644 |
528 | P>S | No |
ClinGen gnomAD |
|
|
CA9884543 rs535909417 |
532 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409229037 rs1295835228 |
537 | R>C | No |
ClinGen gnomAD |
|
|
rs769748383 CA9884544 |
537 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA409229043 rs769748383 |
537 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA315640638 rs917305886 |
539 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758646700 CA9884558 |
540 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780918580 CA9884559 |
546 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490814196 CA409229878 |
547 | S>T | No |
ClinGen gnomAD |
|
|
CA409229998 rs1471328833 |
558 | E>D | No |
ClinGen gnomAD |
|
|
CA9884560 rs752505018 |
558 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA409230066 rs1364044742 |
564 | M>V | No |
ClinGen gnomAD |
|
|
rs149784844 CA315640655 COSM107229 |
565 | V>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs755982312 CA9884561 |
566 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884579 rs755894220 |
570 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs755894220 CA9884578 |
570 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA9884580 rs753688640 |
572 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409230299 rs1310856748 |
576 | P>A | No |
ClinGen gnomAD |
|
|
rs577092226 CA9884582 |
576 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409230301 rs1310856748 |
576 | P>S | No |
ClinGen gnomAD |
|
|
rs1296733938 CA409230312 |
577 | E>K | No |
ClinGen gnomAD |
|
|
rs758046742 CA9884584 |
579 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768867806 CA409230377 |
582 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs768867806 CA9884587 |
582 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777081786 CA9884588 |
583 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9884589 rs748551268 |
589 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184556937 CA409230492 |
589 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1600511223 CA409230517 |
590 | E>D | No |
ClinGen Ensembl |
|
|
rs75057275 CA315640794 |
590 | E>G | No |
ClinGen Ensembl |
|
|
CA409230526 rs1179078263 |
591 | P>H | No |
ClinGen TOPMed |
|
|
CA409230528 rs1179078263 |
591 | P>R | No |
ClinGen TOPMed |
|
|
rs1427246393 CA409230540 |
592 | P>A | No |
ClinGen gnomAD |
|
|
rs916561608 CA315640797 |
592 | P>R | No |
ClinGen TOPMed |
|
|
rs1355121511 CA409230580 |
594 | P>A | No |
ClinGen gnomAD |
|
|
CA409230591 rs1465623315 |
594 | P>R | No |
ClinGen gnomAD |
|
|
CA409230577 rs1355121511 |
594 | P>T | No |
ClinGen gnomAD |
|
|
rs374415027 CA9884592 |
595 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA315640817 rs956081126 |
597 | T>I | No |
ClinGen TOPMed |
|
|
rs1600511301 CA409230627 |
597 | T>P | No |
ClinGen Ensembl |
|
|
rs144987485 CA9884595 |
598 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884596 rs115793726 |
598 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA315640836 rs144987485 |
598 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884598 rs757074440 |
599 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884597 rs753691736 |
599 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA409230688 rs1227062212 |
601 | Q>E | No |
ClinGen TOPMed |
|
|
CA9884599 rs765214477 |
602 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884600 rs750442407 |
603 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409230714 rs750442407 |
603 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884601 rs757958805 |
603 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409230720 rs757958805 |
603 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs779747083 CA9884602 |
604 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 604 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746616095 CA9884603 |
606 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754678543 CA9884604 |
606 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770127005 CA9884607 |
609 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1432631075 CA409230800 |
610 | I>L | No |
ClinGen gnomAD |
|
|
rs773699856 CA9884608 |
612 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773699856 CA315640925 |
612 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1320144161 CA409230859 |
614 | F>S | No |
ClinGen gnomAD |
|
|
rs770966887 CA9884610 |
615 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs372047866 CA9884613 |
619 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409230929 rs1284631393 |
619 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372047866 CA9884612 |
619 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775640126 CA9884614 |
620 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA315640933 rs866342181 |
623 | Q>K | No |
ClinGen Ensembl |
|
|
CA409230974 rs1423875716 |
623 | Q>R | No |
ClinGen TOPMed |
|
|
CA409231009 rs1243098750 |
625 | I>M | No |
ClinGen gnomAD |
|
|
CA409231001 rs1218427480 |
625 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758437481 CA9884618 |
626 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9884621 rs556398791 |
627 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9884619 rs765935366 |
627 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 631 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409231149 rs1366112449 |
632 | H>R | No |
ClinGen TOPMed |
|
|
CA409231147 rs1412719766 |
632 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA409231154 TCGA novel rs1600511729 |
633 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs201577176 CA9884640 |
636 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766986785 CA9884641 |
638 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs752363393 CA9884642 |
638 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA315641031 rs1049430585 |
639 | T>M | No |
ClinGen TOPMed |
|
|
CA9884643 rs755799574 |
640 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9884645 rs182701917 |
641 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9884646 rs757696667 |
642 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409231223 rs1317659057 |
644 | L>V | No |
ClinGen gnomAD |
|
|
rs199613696 CA409231248 |
647 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778597602 CA9884648 |
647 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374270862 CA409231252 |
648 | P>S | No |
ClinGen gnomAD |
|
|
CA409231259 rs1205417568 |
649 | G>D | No |
ClinGen gnomAD |
|
|
CA409231270 rs1442507962 |
651 | A>T | No |
ClinGen gnomAD |
|
|
CA9884652 rs769011759 |
654 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409231301 rs1448782034 |
655 | P>L | No |
ClinGen gnomAD |
|
|
rs150805893 CA409231307 |
656 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884656 rs150805893 |
656 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200149076 CA9884659 |
657 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200149076 CA9884660 |
657 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304912586 CA409231314 |
658 | E>Q | No |
ClinGen TOPMed |
|
|
rs1403402712 CA409231321 |
659 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA409231323 rs1394436152 |
659 | R>Q | No |
ClinGen TOPMed |
|
|
CA409231322 rs1403402712 |
659 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA409231333 rs1600511907 |
661 | Q>* | No |
ClinGen Ensembl |
|
|
rs1600511917 CA409231335 |
661 | Q>R | No |
ClinGen Ensembl |
|
|
rs1462746277 CA409231342 |
662 | E>A | No |
ClinGen TOPMed |
|
|
rs1462746277 CA409231343 |
662 | E>G | No |
ClinGen TOPMed |
|
|
CA9884661 rs763744042 |
664 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA409231373 rs1600511958 |
667 | Y>H | No |
ClinGen Ensembl |
|
|
rs927357002 CA315641117 |
667 | Y>S | No |
ClinGen Ensembl |
|
|
rs757592432 CA9884663 |
668 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757592432 CA9884664 |
668 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753543857 CA9884662 |
668 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369978315 CA9884665 |
671 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531918762 CA9884666 |
672 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9884667 COSM1162695 rs373861155 |
672 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149514465 CA9884668 |
673 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884669 rs149514465 |
673 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9884671 rs748431263 |
677 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781554398 CA9884670 |
677 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9884672 rs748431263 |
677 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA409231439 rs1264513286 |
678 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 678 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409231447 rs1475721769 |
680 | S>P | No |
ClinGen gnomAD |
|
|
CA409231457 rs1171459354 |
681 | S>L | No |
ClinGen gnomAD |
|
|
rs760175614 CA9884677 |
684 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884679 rs568412072 |
685 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 685 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9884678 rs763640084 |
685 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA409231497 rs1471968537 |
687 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9884682 rs750766782 |
689 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374981227 CA9884681 |
689 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409231527 rs1306452674 |
690 | D>N | No |
ClinGen TOPMed |
|
|
rs758872414 CA9884683 |
691 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9884685 rs140397899 |
693 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140397899 CA315641222 |
693 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368720894 CA9884686 |
693 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368720894 CA409231573 |
693 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203122918 CA409231580 |
694 | E>D | No |
ClinGen gnomAD |
|
|
CA409231574 rs1469444090 |
694 | E>K | No |
ClinGen TOPMed |
|
|
rs1469444090 CA409231575 |
694 | E>Q | No |
ClinGen TOPMed |
|
|
CA409231592 rs1263643788 |
695 | Q>R | No |
ClinGen gnomAD |
|
|
rs1198687796 CA409231604 |
697 | P>L | No |
ClinGen gnomAD |
|
|
rs748341312 CA9884688 |
699 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756316870 CA9884690 |
699 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9884689 rs756316870 |
699 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9884693 rs775264425 |
700 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs547744655 CA9884692 |
700 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387670854 CA409231693 |
701 | P>L | No |
ClinGen gnomAD |
|
|
CA409231703 rs1401796494 |
702 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs367581698 CA315641285 |
703 | P>L | No |
ClinGen Ensembl |
|
|
rs1240672847 CA409231714 |
703 | P>S | No |
ClinGen TOPMed |
|
|
CA409231741 rs1343660570 |
704 | T>I | No |
ClinGen gnomAD |
No associated diseases with Q9H4Z3
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.62 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| intercellular bridge | A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + m(7)G(5')pppAm = S-adenosyl-L-homocysteine + m(7)G(5')pppm(6)Am. |
| RNA polymerase II C-terminal domain binding | Binding to the C-terminal domain (CTD) of the largest subunit of RNA polymerase II. The CTD is comprised of repeats of a heptapeptide with the consensus sequence YSPTSPS. The number of repeats varies with the species and a minimum number of repeats is required for RNAP II function. |
| RNA polymerase II C-terminal domain phosphoserine binding | Binding to phosphorylated serine residues in the C-terminal domain of RNA polymerase II. |
| S-adenosyl-L-methionine binding | Binding to S-adenosyl-L-methionine. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA methylation | The posttranscriptional addition of methyl groups to specific residues in an mRNA molecule. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANENHGSPR | EEASLLSHSP | GTSNQSQPCS | PKPIRLVQDL | PEELVHAGWE | KCWSRRENRP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YYFNRFTNQS | LWEMPVLGQH | DVISDPLGLN | ATPLPQDSSL | VETPPAENKP | RKRQLSEEQP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGNGVKKPKI | EIPVTPTGQS | VPSSPSIPGT | PTLKMWGTSP | EDKQQAALLR | PTEVYWDLDI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QTNAVIKHRG | PSEVLPPHPE | VELLRSQLIL | KLRQHYRELC | QQREGIEPPR | ESFNRWMLER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KVVDKGSDPL | LPSNCEPVVS | PSMFREIMND | IPIRLSRIKF | REEAKRLLFK | YAEAARRLIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRSASPDSRK | VVKWNVEDTF | SWLRKDHSAS | KEDYMDRLEH | LRRQCGPHVS | AAAKDSVEGI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CSKIYHISLE | YVKRIREKHL | AILKENNISE | EVEAPEVEPR | LVYCYPVRLA | VSAPPMPSVE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MHMENNVVCI | RYKGEMVKVS | RNYFSKLWLL | YRYSCIDDSA | FERFLPRVWC | LLRRYQMMFG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VGLYEGTGLQ | GSLPVHVFEA | LHRLFGVSFE | CFASPLNCYF | RQYCSAFPDT | DGYFGSRGPC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LDFAPLSGSF | EANPPFCEEL | MDAMVSHFER | LLESSPEPLS | FIVFIPEWRE | PPTPALTRME |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QSRFKRHQLI | LPAFEHEYRS | GSQHICKKEE | MHYKAVHNTA | VLFLQNDPGF | AKWAPTPERL |
| 670 | 680 | 690 | 700 | ||
| QELSAAYRQS | GRSHSSGSSS | SSSSEAKDRD | SGREQGPSRE | PHPT |