O15042
PR
Gene name |
U2SURP (KIAA0332, SR140) |
Protein name |
U2 snRNP-associated SURP motif-containing protein |
Names |
140 kDa Ser/Arg-rich domain protein, U2-associated protein SR140 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23350 |
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
1 structures for O15042
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O15042-F1 | Predicted | AlphaFoldDB |
495 variants for O15042
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776034960 CA2652591 |
3 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761426654 CA2652592 |
4 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765060815 CA2652593 |
5 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA354840627 rs1206520440 |
5 | T>P | No |
ClinGen TOPMed |
|
|
rs762834528 CA2652595 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762834528 CA2652596 |
6 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758588508 CA2652594 |
6 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777950336 CA354840636 |
7 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777950336 CA84811266 |
7 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2652598 rs755269749 |
8 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755269749 CA84811280 |
8 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560427922 CA2652601 |
9 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560427922 CA2652602 |
9 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560427922 CA2652600 |
9 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2652603 rs749860940 |
10 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354840661 rs1162972007 |
11 | K>N | No |
ClinGen gnomAD |
|
| rs1462023572 | 11 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354840659 rs1420432899 |
11 | K>R | No |
ClinGen gnomAD |
|
|
rs1461271000 CA354840669 |
13 | S>G | No |
ClinGen TOPMed |
|
|
CA84811337 rs183628705 |
13 | S>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA2652604 rs183628705 |
13 | S>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs779264097 CA2652605 |
14 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA354840674 rs1439244914 |
14 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354840680 rs1560169276 |
15 | K>E | No |
ClinGen Ensembl |
|
|
CA354840684 rs1445019335 |
15 | K>M | No |
ClinGen gnomAD |
|
| rs1404552312 | 16 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380790950 CA354841280 |
16 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354841310 rs367592203 |
21 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367592203 CA2652627 |
21 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769125553 CA2652628 |
22 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2652629 rs186856142 |
24 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2652630 rs186856142 |
24 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1173114217 CA354841356 |
28 | D>E | No |
ClinGen TOPMed |
|
|
CA84818926 rs1043158767 |
28 | D>Y | No |
ClinGen Ensembl |
|
|
CA84818927 rs903169338 |
29 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2652632 rs539676801 |
30 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770964271 CA2652631 |
30 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1367385421 CA354841383 |
31 | M>V | No |
ClinGen gnomAD |
|
|
CA84819953 rs909853530 |
32 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2652682 rs746804665 |
36 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2652683 rs746804665 |
36 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs369933477 CA2652681 |
36 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354841699 rs1409193993 |
38 | D>G | No |
ClinGen gnomAD |
|
|
CA2652685 rs762035306 |
39 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs773368416 CA2652687 |
41 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2652686 rs552560548 |
41 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762981143 CA2652689 |
42 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2652688 rs762981143 |
42 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs185429890 CA2652692 |
44 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200575639 CA2652691 |
44 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538627334 CA2652693 |
45 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756994177 CA2652694 |
46 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1255027956 CA354841757 |
47 | P>R | No |
ClinGen gnomAD |
|
|
rs1198959089 CA354841753 |
47 | P>T | No |
ClinGen gnomAD |
|
|
CA354841760 rs1184620765 |
48 | K>E | No |
ClinGen TOPMed |
|
|
CA2652695 rs141570501 |
48 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA84820018 rs750595787 |
51 | R>T | No |
ClinGen Ensembl |
|
|
CA2652696 rs369610759 |
52 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2652697 rs368122040 |
53 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs372782950 CA84820025 |
53 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA2652698 rs780034027 |
54 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168372931 CA354841814 |
56 | R>G | No |
ClinGen gnomAD |
|
|
rs1402205738 CA354841821 |
57 | N>D | No |
ClinGen gnomAD |
|
|
rs1465944994 CA354841825 |
57 | N>S | No |
ClinGen gnomAD |
|
|
CA84820036 rs267599634 |
59 | S>R | No |
ClinGen Ensembl |
|
|
rs756336065 CA84820042 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756336065 CA2652700 |
61 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652702 rs780983862 |
61 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756336065 CA2652699 |
61 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652703 rs748325722 |
62 | E>D | No |
ClinGen ExAC |
|
|
rs1314979874 CA354841853 |
62 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA84820062 rs1043896751 |
63 | S>R | No |
ClinGen Ensembl |
|
|
rs773351690 CA2652706 |
68 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749377295 CA2652707 |
70 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs770985608 CA2652708 |
70 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2652709 rs774858523 |
71 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999639746 CA84820079 |
71 | N>S | No |
ClinGen Ensembl |
|
|
CA84821755 rs921402160 |
76 | L>F | No |
ClinGen TOPMed |
|
|
CA2652725 rs747914265 |
76 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA354841977 rs1190503713 |
79 | N>K | No |
ClinGen gnomAD |
|
|
CA84821772 rs952864456 |
79 | N>S | No |
ClinGen TOPMed |
|
|
rs755917687 CA2652726 |
79 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1265018124 CA354842006 |
83 | A>G | No |
ClinGen gnomAD |
|
|
rs1277725381 CA354842019 |
85 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778054955 CA2652727 |
85 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2652728 rs749479945 |
87 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1487823946 CA354842072 |
93 | K>E | No |
ClinGen TOPMed |
|
|
CA354842117 rs1419217033 |
99 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372614386 CA2652730 |
101 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs78259926 CA84821796 |
102 | E>* | No |
ClinGen Ensembl |
|
|
rs746338088 CA354842143 |
103 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746338088 CA2652731 |
103 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1366019029 CA354842176 |
107 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84823244 rs938370453 |
114 | A>V | No |
ClinGen TOPMed |
|
|
CA84823255 rs931202559 |
116 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 119 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354842347 rs1160728267 |
126 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 127 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762274427 CA354842377 |
128 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578122129 CA354842368 |
128 | D>V | No |
ClinGen Ensembl |
|
|
rs770545544 CA2652757 |
129 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774045040 CA2652758 |
132 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652759 rs759040751 |
134 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA354843563 rs1373889019 |
140 | V>I | No |
ClinGen gnomAD |
|
|
rs767022063 CA2652760 |
145 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752576254 CA2652761 |
146 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2652777 TCGA novel rs770208372 |
147 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA2652778 rs773929043 |
148 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1173431393 CA354843861 |
150 | T>A | No |
ClinGen gnomAD |
|
|
rs745536317 CA2652779 |
154 | R>S | No |
ClinGen ExAC |
|
| TCGA novel | 161 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84823639 rs968363021 |
165 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1338299294 CA354844153 |
165 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2652782 rs760272213 |
166 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA354844179 rs1270578473 |
167 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763917320 CA2652783 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776690765 CA2652784 |
172 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA354844284 rs1276766759 |
172 | N>S | No |
ClinGen gnomAD |
|
|
CA2652785 rs761697909 |
176 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765135357 CA354844362 |
176 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2652786 rs765135357 |
176 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354844385 rs1383338048 |
177 | E>G | No |
ClinGen TOPMed |
|
|
CA84823649 rs991137755 |
179 | P>S | No |
ClinGen Ensembl |
|
|
CA354844471 rs1487606995 |
182 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1285557136 | 195 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 197 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451440253 CA354844994 |
198 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA84825494 rs374916152 |
200 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA354845878 rs1471776852 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 218 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908481815 CA84825909 |
219 | D>V | No |
ClinGen TOPMed |
|
|
CA2652813 rs753098706 |
221 | R>K | No |
ClinGen ExAC |
|
|
CA2652814 rs756648523 |
226 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA354845976 rs1418385860 |
226 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2652815 rs778296872 |
230 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1393324075 CA354846021 |
233 | P>S | No |
ClinGen gnomAD |
|
|
CA354846027 rs1329652745 |
234 | P>S | No |
ClinGen gnomAD |
|
|
rs749630453 CA2652817 |
235 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1323666299 CA354846048 |
237 | D>G | No |
ClinGen gnomAD |
|
|
CA2652818 rs757677932 |
241 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746680026 CA2652820 |
242 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1481422435 CA354846086 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1195959930 CA354846089 |
243 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1578128582 CA354846095 |
244 | S>F | No |
ClinGen Ensembl |
|
|
rs1357550221 CA354846113 |
245 | M>R | No |
ClinGen TOPMed |
|
|
rs1254875254 CA354846098 |
245 | M>V | No |
ClinGen gnomAD |
|
|
rs201384657 CA2652846 |
247 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769491868 CA2652847 |
247 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354846129 rs1376083993 |
248 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 252 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534431706 CA2652850 |
252 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 253 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166022437 CA354846191 |
257 | V>I | No |
ClinGen TOPMed |
|
|
rs1166022437 CA354846190 |
257 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 258 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755625649 CA2652868 |
262 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA84826780 rs923740679 |
263 | P>L | No |
ClinGen TOPMed |
|
|
CA2652870 rs570938056 |
263 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354846381 rs1263460406 |
283 | P>A | No |
ClinGen gnomAD |
|
|
CA2652890 rs556322405 |
287 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763880358 CA354846893 |
290 | L>M | Variant assessed as Somatic; 4.731e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354846937 rs1373541101 |
293 | E>K | No |
ClinGen TOPMed |
|
|
rs1172080961 CA354847031 |
299 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200439948 CA84827606 |
317 | E>Q | No |
ClinGen 1000Genomes |
|
| TCGA novel | 324 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354847235 rs1461855388 |
326 | M>V | No |
ClinGen gnomAD |
|
|
rs1308206310 CA354847246 |
327 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 332 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2652897 rs779849021 |
333 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs746844047 CA2652898 |
336 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768840667 CA2652899 |
337 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84827659 rs370839077 |
340 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748442364 CA2652919 |
342 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354847363 rs1225916220 |
342 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354847387 rs1285397854 |
345 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 358 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2652922 rs749421442 |
363 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354847541 rs1471129394 |
367 | P>L | No |
ClinGen gnomAD |
|
|
CA2652924 rs775057563 |
372 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354847694 rs1280633240 |
390 | R>L | No |
ClinGen gnomAD |
|
|
rs1280633240 CA354847692 |
390 | R>Q | No |
ClinGen gnomAD |
|
|
rs749875853 CA2652930 |
390 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA354847728 rs1231811193 |
395 | N>S | No |
ClinGen gnomAD |
|
|
rs1578132068 CA354847734 |
396 | A>S | No |
ClinGen Ensembl |
|
|
rs1275396669 CA354847743 |
397 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2652931 rs763612551 |
398 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374471161 CA2652932 |
400 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439041160 CA354847789 |
404 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1439041160 CA354847788 |
404 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2652934 rs754709793 |
405 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354847795 rs1256677906 |
405 | K>R | No |
ClinGen gnomAD |
|
|
rs780870469 CA2652935 |
406 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1258045948 CA354847850 |
411 | T>P | No |
ClinGen gnomAD |
|
|
CA2652946 rs199673101 |
414 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs369925488 CA2652947 |
416 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301908368 CA354847981 |
429 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs956667156 CA84830323 |
431 | I>M | No |
ClinGen Ensembl |
|
|
rs1293620897 CA354847996 |
432 | H>N | No |
ClinGen gnomAD |
|
|
rs1371904038 CA354848006 |
433 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770388213 CA2652971 |
440 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA354848079 rs1232425534 |
444 | M>V | No |
ClinGen gnomAD |
|
|
CA84830389 rs938918644 |
457 | P>T | No |
ClinGen Ensembl |
|
|
rs770495000 CA2652973 |
458 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84831349 rs76332901 |
464 | E>* | No |
ClinGen Ensembl |
|
|
rs758568729 CA2652984 |
469 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354848356 rs1210716236 |
479 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1324383896 CA354848358 |
480 | I>V | No |
ClinGen TOPMed |
|
|
rs1187895563 CA354848414 |
484 | D>E | No |
ClinGen gnomAD |
|
|
CA2653005 rs762878837 |
485 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354848422 rs1301681865 |
486 | P>S | No |
ClinGen TOPMed |
|
|
rs1560189151 CA354848427 |
487 | T>A | No |
ClinGen Ensembl |
|
|
CA2653007 rs751970089 |
490 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376693702 CA2653006 |
490 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570551610 CA2653008 |
491 | T>M | Variant assessed as Somatic; 0.0001924 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354848469 rs1341309314 |
493 | D>G | No |
ClinGen Ensembl |
|
|
CA2653009 rs781698820 |
495 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354848483 rs1343149169 |
495 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354848485 rs1343149169 |
495 | R>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 501 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354848592 rs1301293559 |
510 | P>L | No |
ClinGen gnomAD |
|
|
rs760690516 CA84831536 |
513 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 515 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653018 rs556862400 |
516 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354848651 rs1191230248 |
518 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 521 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653021 rs773254903 |
522 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA84831560 rs997263753 |
523 | A>G | No |
ClinGen Ensembl |
|
|
CA2653023 rs766548772 |
524 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 524 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653024 rs751636151 |
525 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354848693 rs751636151 CA354848694 |
525 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354848729 rs1440388621 |
530 | K>E | No |
ClinGen gnomAD |
|
|
rs1443761270 CA354848758 |
534 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1036996988 CA84831572 |
536 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 539 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 539 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764553396 CA2653048 |
540 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1451416499 CA354838281 |
545 | I>V | No |
ClinGen TOPMed |
|
|
rs1185735325 CA354838291 |
546 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2653052 rs766053922 |
547 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1014975240 CA84790496 |
548 | G>A | No |
ClinGen TOPMed |
|
|
rs1368580160 CA354838297 CA354838298 |
548 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2653053 rs754486084 |
550 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2653054 rs780876116 |
553 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1164329630 CA354838348 |
555 | D>E | No |
ClinGen TOPMed |
|
|
CA354838361 rs1447031878 |
557 | G>A | No |
ClinGen TOPMed |
|
|
CA2653055 rs747698575 |
558 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1309160845 CA354838387 |
561 | V>I | No |
ClinGen gnomAD |
|
|
CA2653057 rs777627906 |
566 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 576 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84790557 rs913457028 |
577 | I>V | No |
ClinGen Ensembl |
|
|
rs774576224 CA2653060 |
579 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA84790559 rs950359780 |
579 | E>G | No |
ClinGen Ensembl |
|
|
CA84790567 rs1046311837 |
580 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA354838536 rs772101168 |
583 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2653062 rs772101168 |
583 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343658650 CA354838580 |
589 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 599 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453455014 CA354838865 |
607 | A>V | No |
ClinGen gnomAD |
|
|
rs200396401 CA2653094 |
622 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354839271 rs1293564549 |
624 | C>Y | No |
ClinGen gnomAD |
|
|
CA2653095 rs752402876 |
625 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1289991096 CA354839317 |
631 | N>D | No |
ClinGen gnomAD |
|
|
rs763535711 CA2653097 |
631 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84792206 rs548298336 |
633 | T>S | No |
ClinGen gnomAD |
|
|
CA2653098 rs572941957 |
634 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757113279 CA2653099 |
635 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs372196737 CA2653100 |
635 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750208723 CA2653101 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758260674 CA2653102 |
639 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1203624895 CA354839370 |
640 | H>N | No |
ClinGen gnomAD |
|
|
rs1254488420 CA354839397 |
643 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 643 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 643 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473110441 CA546597785 |
646 | F>* | No |
ClinGen gnomAD |
|
|
CA354839451 rs1172660838 |
649 | R>G | No |
ClinGen TOPMed |
|
|
rs1219095309 CA354839463 |
651 | M>V | No |
ClinGen gnomAD |
|
|
rs1415029882 CA354839542 |
661 | A>S | No |
ClinGen gnomAD |
|
|
CA354839548 rs1425905440 |
662 | I>V | No |
ClinGen gnomAD |
|
|
CA354839562 rs1247002272 |
664 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 664 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 674 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653133 rs778366159 |
674 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2653135 rs771383205 |
676 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1158041040 CA354839664 |
679 | V>I | No |
ClinGen gnomAD |
|
|
rs1560194822 CA354839673 |
680 | N>T | No |
ClinGen Ensembl |
|
|
rs774548411 CA2653136 |
682 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388218428 CA354839685 |
682 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 686 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653137 rs746295511 |
687 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560195630 CA354839753 |
689 | D>G | No |
ClinGen Ensembl |
|
|
rs769472250 CA2653159 |
689 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769472250 CA2653160 |
689 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1175928754 CA354839764 |
691 | P>A | No |
ClinGen TOPMed |
|
|
rs762504180 CA2653161 |
691 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 695 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364619257 CA354839804 |
697 | A>S | No |
ClinGen gnomAD |
|
|
CA354839806 rs1364619257 |
697 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752822468 CA2653166 |
707 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354839908 rs1246299867 |
712 | D>A | No |
ClinGen Ensembl |
|
|
CA354839925 rs1412092064 |
714 | I>M | No |
ClinGen gnomAD |
|
|
rs1279853404 CA354839920 |
714 | I>V | No |
ClinGen TOPMed |
|
|
rs764460579 CA2653168 |
718 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 718 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947325265 CA84793752 |
718 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2653169 rs545996167 |
719 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2653170 rs370077868 |
719 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2653171 rs779224115 |
720 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227620080 CA354839961 |
721 | I>V | No |
ClinGen gnomAD |
|
|
CA354839971 rs201356861 |
722 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2653173 rs576560027 |
722 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2653174 rs576560027 |
722 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA84793800 rs1052489296 |
724 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA84793816 rs373648103 |
727 | V>I | No |
ClinGen Ensembl |
|
|
rs1185687778 CA354840006 |
728 | P>A | No |
ClinGen gnomAD |
|
|
CA354840011 rs562026455 CA2653179 |
729 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1311844347 CA354840044 |
733 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 733 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774105918 CA2653180 |
734 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354840124 rs1578151487 |
743 | A>G | No |
ClinGen Ensembl |
|
|
CA2653199 rs566037151 |
743 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745418832 CA2653200 |
744 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs956010781 CA84794369 |
746 | D>N | No |
ClinGen TOPMed |
|
|
rs775636851 CA2653202 |
748 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2653203 CA354840165 rs760481186 |
749 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1560196290 CA354840163 |
749 | K>R | No |
ClinGen Ensembl |
|
|
rs768588346 CA2653204 |
750 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1458469089 CA354840192 |
753 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771639436 CA2653205 |
753 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206290827 CA354840274 |
765 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 771 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354840348 rs1578152526 |
773 | A>V | No |
ClinGen Ensembl |
|
|
CA354840365 rs1163477303 |
776 | T>I | No |
ClinGen gnomAD |
|
|
CA2653219 rs745380408 |
776 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354840375 rs1348964295 |
778 | K>T | No |
ClinGen TOPMed |
|
|
rs757852821 CA2653220 |
782 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2653221 rs375705628 |
784 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001769247 CA84795008 |
788 | S>T | No |
ClinGen Ensembl |
|
|
rs746967791 CA2653223 |
789 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354840462 rs1375802680 |
790 | E>K | No |
ClinGen gnomAD |
|
|
rs1348731897 CA354840470 |
791 | E>K | No |
ClinGen TOPMed |
|
|
CA354840484 rs1312166859 |
792 | E>D | No |
ClinGen gnomAD |
|
|
CA354840479 rs1224482575 |
792 | E>Q | No |
ClinGen gnomAD |
|
|
CA2653238 rs753092946 |
796 | Q>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 797 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756503036 CA2653239 |
799 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2653240 rs764878724 |
800 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764878724 CA354840732 |
800 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2653242 rs750059999 |
802 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1451265841 CA354840758 |
803 | E>G | No |
ClinGen gnomAD |
|
|
CA2653244 rs779745232 |
807 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA2653246 rs754948822 |
808 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 809 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84798714 rs1007221187 |
810 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781341918 CA2653247 |
813 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747907616 CA2653248 |
815 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1272408606 CA354840843 |
815 | H>R | No |
ClinGen gnomAD |
|
|
rs1219040528 CA354840852 |
816 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA354840866 rs1299557407 |
818 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 819 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 820 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359110188 CA354840884 |
821 | I>V | No |
ClinGen TOPMed |
|
|
rs749502496 CA2653251 |
824 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1158591589 CA354840918 |
825 | M>I | No |
ClinGen TOPMed |
|
|
CA354840915 rs1267009567 |
825 | M>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1217251909 CA354840930 |
827 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 828 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 829 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84798751 rs897275321 |
830 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2653255 rs759670533 |
834 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774392334 CA2653254 |
834 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768008125 CA354841002 |
837 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768008125 CA2653256 |
837 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388058684 CA354841018 |
839 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771022327 CA84798769 |
842 | A>V | No |
ClinGen Ensembl |
|
|
rs1455729959 CA354841044 |
843 | K>R | No |
ClinGen gnomAD |
|
|
CA2653257 rs775867155 |
845 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1367953128 CA354841438 |
853 | K>M | No |
ClinGen gnomAD |
|
|
rs749131603 CA2653269 |
854 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs752963239 CA84805247 |
865 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2653271 rs779112330 |
867 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1279695263 CA354841535 |
867 | P>T | No |
ClinGen gnomAD |
|
|
rs940179078 CA84805257 |
869 | Q>H | No |
ClinGen TOPMed |
|
|
rs1226586016 CA354841556 |
870 | S>N | No |
ClinGen gnomAD |
|
|
CA2653272 rs745942958 |
871 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 872 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 872 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653273 rs772196941 |
875 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2653274 rs776040513 |
876 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA354841603 rs761124591 |
876 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2653276 rs769233518 |
877 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184238540 CA354841661 |
883 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA84805280 rs879090029 |
884 | Q>L | No |
ClinGen Ensembl |
|
|
CA354841689 rs1166661470 |
885 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 888 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 892 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 895 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 895 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779092293 CA2653292 |
895 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs868235872 CA84807412 |
896 | E>D | No |
ClinGen Ensembl |
|
|
rs370060610 CA2653293 |
898 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772107032 CA2653294 |
901 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA84807419 rs964456045 |
907 | S>F | No |
ClinGen Ensembl |
|
|
CA354842602 rs1328075833 |
907 | S>T | No |
ClinGen gnomAD |
|
|
CA354842612 rs1227895147 |
908 | R>C | No |
ClinGen gnomAD |
|
|
CA354842618 rs1273971924 |
908 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 909 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653297 rs747131897 |
911 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA354842681 rs777265789 |
914 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777265789 CA2653299 |
914 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2653300 rs762257961 |
918 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347593303 CA354842755 |
919 | T>A | No |
ClinGen TOPMed |
|
|
rs376318821 CA2653302 |
920 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2653301 rs770334570 |
920 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA84807465 rs371501706 |
921 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA354842800 rs376254231 |
922 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1185710533 CA354842820 |
923 | K>N | No |
ClinGen gnomAD |
|
|
rs1299929077 CA354842951 |
927 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 928 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391024897 CA354843033 |
933 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2653318 rs748707167 |
933 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748707167 CA354843037 |
933 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391024897 CA354843034 |
933 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs1560209899 | 934 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 935 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2653319 rs770457194 |
937 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354843084 rs770457194 |
937 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240444695 CA354843087 |
937 | R>H | Variant assessed as Somatic; 4.709e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1265391080 CA354843104 |
938 | S>I | No |
ClinGen gnomAD |
|
|
CA84808305 rs917335272 |
939 | S>C | No |
ClinGen TOPMed |
|
|
CA354843129 rs1225207440 |
940 | S>R | No |
ClinGen gnomAD |
|
|
rs1270036608 CA354843140 |
941 | G>S | No |
ClinGen gnomAD |
|
|
rs749684244 CA2653321 |
943 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA354843210 rs1162992888 |
946 | S>Y | No |
ClinGen TOPMed |
|
|
CA354843231 rs1252110244 |
948 | S>T | No |
ClinGen gnomAD |
|
|
CA84808330 rs200000025 |
949 | P>L | No |
ClinGen 1000Genomes |
|
|
rs200513999 CA84808324 |
949 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs200513999 CA354843241 |
949 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA354843280 rs1186177225 |
951 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779031489 CA84808357 |
953 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1164036400 CA354843340 |
956 | R>C | No |
ClinGen gnomAD |
|
|
CA2653326 rs372157259 |
956 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354843501 rs1375735085 |
966 | R>L | No |
ClinGen gnomAD |
|
|
rs761696118 CA2653327 |
966 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84808371 rs925914775 |
968 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs867053962 CA84808376 |
971 | H>Y | No |
ClinGen TOPMed |
|
|
rs1307264181 CA354843611 |
972 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 973 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766501456 CA2653331 |
973 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs936005054 CA84808397 |
975 | P>R | No |
ClinGen TOPMed |
|
|
rs1578179858 CA354843686 |
976 | R>T | No |
ClinGen Ensembl |
|
|
rs375521999 CA2653333 |
978 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs182412631 CA2653334 |
979 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 979 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748263321 CA2653335 |
982 | A>G | No |
ClinGen ExAC |
|
| TCGA novel | 982 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184091835 CA354843772 |
982 | A>T | No |
ClinGen gnomAD |
|
|
rs756632780 CA2653336 |
983 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1427400546 CA354843987 |
986 | P>L | No |
ClinGen gnomAD |
|
|
CA2653347 rs761323898 |
988 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs776123042 CA84809290 |
988 | G>S | No |
ClinGen gnomAD |
|
|
rs1429225007 CA354844050 |
990 | R>G | No |
ClinGen gnomAD |
|
|
CA354844172 rs1432913635 |
996 | R>K | No |
ClinGen TOPMed |
|
|
rs773196711 CA2653349 |
999 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84809314 rs749872187 |
999 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs762638725 CA2653351 |
1003 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1006 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867022025 CA84809346 |
1006 | S>L | No |
ClinGen Ensembl |
|
|
CA354844368 rs1381869112 |
1007 | G>R | No |
ClinGen TOPMed |
|
|
rs1175287757 CA354844397 |
1008 | K>R | No |
ClinGen TOPMed |
|
|
CA2653354 rs759756838 |
1009 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1011 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932535925 CA84809381 |
1013 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1025 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84809382 rs904868042 |
1025 | K>R | No |
ClinGen TOPMed |
|
|
CA2653357 rs375140128 |
1027 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354844791 rs1355429851 |
1029 | H>Q | No |
ClinGen TOPMed |
No associated diseases with O15042
6 regional properties for O15042
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SWAP/Surp | 428 - 482 | IPR000061 |
| domain | RNA recognition motif domain | 274 - 355 | IPR000504 |
| domain | CID domain | 534 - 679 | IPR006569 |
| domain | mRNA splicing factor Cwf21 domain | 836 - 887 | IPR013170 |
| domain | SR140, RNA recognition motif | 273 - 356 | IPR035009 |
| domain | U2-associated protein SR140, cwf21 domain | 836 - 884 | IPR047488 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADKTPGGSQ | KASSKTRSSD | VHSSGSSDAH | MDASGPSDSD | MPSRTRPKSP | RKHNYRNESA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RESLCDSPHQ | NLSRPLLENK | LKAFSIGKMS | TAKRTLSKKE | QEELKKKEDE | KAAAEIYEEF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LAAFEGSDGN | KVKTFVRGGV | VNAAKEEHET | DEKRGKIYKP | SSRFADQKNP | PNQSSNERPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLLVIETKKP | PLKKGEKEKK | KSNLELFKEE | LKQIQEERDE | RHKTKGRLSR | FEPPQSDSDG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QRRSMDAPSR | RNRSSGVLDD | YAPGSHDVGD | PSTTNLYLGN | INPQMNEEML | CQEFGRFGPL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASVKIMWPRT | DEERARERNC | GFVAFMNRRD | AERALKNLNG | KMIMSFEMKL | GWGKAVPIPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HPIYIPPSMM | EHTLPPPPSG | LPFNAQPRER | LKNPNAPMLP | PPKNKEDFEK | TLSQAIVKVV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IPTERNLLAL | IHRMIEFVVR | EGPMFEAMIM | NREINNPMFR | FLFENQTPAH | VYYRWKLYSI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQGDSPTKWR | TEDFRMFKNG | SFWRPPPLNP | YLHGMSEEQE | TEAFVEEPSK | KGALKEEQRD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KLEEILRGLT | PRKNDIGDAM | VFCLNNAEAA | EEIVDCITES | LSILKTPLPK | KIARLYLVSD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLYNSSAKVA | NASYYRKFFE | TKLCQIFSDL | NATYRTIQGH | LQSENFKQRV | MTCFRAWEDW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AIYPEPFLIK | LQNIFLGLVN | IIEEKETEDV | PDDLDGAPIE | EELDGAPLED | VDGIPIDATP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IDDLDGVPIK | SLDDDLDGVP | LDATEDSKKN | EPIFKVAPSK | WEAVDESELE | AQAVTTSKWE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LFDQHEESEE | EENQNQEEES | EDEEDTQSSK | SEEHHLYSNP | IKEEMTESKF | SKYSEMSEEK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RAKLREIELK | VMKFQDELES | GKRPKKPGQS | FQEQVEHYRD | KLLQREKEKE | LERERERDKK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DKEKLESRSK | DKKEKDECTP | TRKERKRRHS | TSPSPSRSSS | GRRVKSPSPK | SERSERSERS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HKESSRSRSS | HKDSPRDVSK | KAKRSPSGSR | TPKRSRRSRS | RSPKKSGKKS | RSQSRSPHRS |
| HKKSKKNKH |