O75475
Gene name |
PSIP1 (DFS70, LEDGF, PSIP2) |
Protein name |
PC4 and SFRS1-interacting protein |
Names |
CLL-associated antigen KW-7, Dense fine speckles 70 kDa protein, DFS 70, Lens epithelium-derived growth factor, Transcriptional coactivator p75/p52 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11168 |
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
35 structures for O75475
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1Z9E | NMR | - | A | 347-471 | PDB |
| 2B4J | X-ray | 202 A | C/D | 347-442 | PDB |
| 2M16 | NMR | - | A | 1-93 | PDB |
| 2MSR | NMR | - | B | 344-426 | PDB |
| 2MTN | NMR | - | A | 337-442 | PDB |
| 2N3A | NMR | - | B | 348-426 | PDB |
| 3F9K | X-ray | 320 A | C/G/K/O/S/W/a/e/i/m/q/u | 347-435 | PDB |
| 3HPG | X-ray | 328 A | G/H/I/J/K/L | 347-435 | PDB |
| 3HPH | X-ray | 264 A | E/F/G/H | 348-435 | PDB |
| 3U88 | X-ray | 300 A | C/D | 347-435 | PDB |
| 3ZEH | NMR | - | A | 3-100 | PDB |
| 4FU6 | X-ray | 210 A | A | 1-135 | PDB |
| 5N88 | X-ray | 170 A | PDB | ||
| 5OYM | X-ray | 205 A | A/B/C/D/E/F/G/H | 345-431 | PDB |
| 5YI9 | NMR | - | A | 345-442 | PDB |
| 6EMO | NMR | - | A | 345-442 | PDB |
| 6EMP | NMR | - | A | 345-442 | PDB |
| 6EMQ | NMR | - | A | 345-443 | PDB |
| 6EMR | NMR | - | A | 345-442 | PDB |
| 6S01 | EM | 320 A | K | 1-530 | PDB |
| 6TRJ | X-ray | 130 A | A | 345-430 | PDB |
| 6TVM | NMR | - | A/B | 345-467 | PDB |
| 6ZV0 | NMR | - | A | 345-431 | PDB |
| 7OUF | EM | 300 A | C/F | 1-325 | PDB |
| 7OUG | EM | 310 A | C/F | 1-325 | PDB |
| 7OUH | EM | 350 A | C/F | 1-325 | PDB |
| 7PEL | EM | 334 A | C/F | 1-325 | PDB |
| 7Z1Z | EM | 350 A | Q/R | 347-435 | PDB |
| 8CBN | EM | 334 A | K/L | 1-530 | PDB |
| 8CBQ | EM | 400 A | K | 1-530 | PDB |
| 8PC5 | EM | 304 A | K | 1-530 | PDB |
| 8PC6 | EM | 302 A | K | 1-530 | PDB |
| 8PEO | EM | 269 A | K | 1-530 | PDB |
| 8PEP | EM | 333 A | K | 1-530 | PDB |
| AF-O75475-F1 | Predicted | AlphaFoldDB |
423 variants for O75475
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4993858 rs760199566 |
2 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772863448 CA372980049 |
3 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772863448 CA4993857 |
3 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149706980 CA4993855 |
4 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477423534 CA372980021 |
7 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1430061223 CA372980018 |
7 | P>L | No |
ClinGen TOPMed |
|
|
rs1477423534 CA372980020 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4993850 COSM1756086 COSM1756087 COSM1756088 rs770076544 |
19 | P>L | skin urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781250003 CA4993848 |
20 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372979695 rs1228930937 |
25 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372979670 rs771167174 |
26 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189458069 rs773350105 |
27 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575796724 CA4993807 |
27 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1010292841 CA189458066 |
29 | P>S | No |
ClinGen TOPMed |
|
|
CA372979622 rs1435004205 |
30 | D>G | No |
ClinGen TOPMed |
|
|
CA372979611 rs1293269200 |
31 | G>R | No |
ClinGen TOPMed |
|
|
CA189458063 rs200896169 |
34 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1368693522 CA372979566 |
34 | K>N | No |
ClinGen TOPMed |
|
|
CA189458060 rs893272867 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs1338316787 CA372979546 |
36 | P>S | No |
ClinGen gnomAD |
|
|
rs1432509820 CA372979512 |
38 | N>S | No |
ClinGen gnomAD |
|
|
CA4993804 rs748748576 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769181268 CA4993802 COSM1107429 COSM1107428 |
50 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4993778 rs189729708 |
52 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372978430 rs1317551545 |
56 | K>E | No |
ClinGen TOPMed |
|
|
rs757963824 CA372978418 |
56 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306041831 CA372978396 |
58 | I>V | No |
ClinGen gnomAD |
|
|
CA372978376 rs1428902151 |
59 | F>Y | No |
ClinGen gnomAD |
|
|
rs1396877687 CA372978327 |
63 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1396877687 CA372978325 |
63 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 66 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024734089 CA189445957 |
67 | K>E | No |
ClinGen Ensembl |
|
|
CA372978200 rs1199743722 |
71 | P>A | No |
ClinGen gnomAD |
|
|
rs753774349 CA4993772 |
76 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs750699133 CA4993769 |
85 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | N>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372977972 rs1422426991 |
87 | N>H | No |
ClinGen TOPMed |
|
|
CA372977945 rs1254988648 |
89 | K>E | No |
ClinGen gnomAD |
|
|
rs1223593491 CA372977940 |
89 | K>R | No |
ClinGen gnomAD |
|
|
rs762044269 CA4993767 |
90 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764202919 CA4993765 |
94 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4993764 rs202096899 |
94 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202096899 CA4993763 |
94 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745747928 CA4993733 |
99 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372977570 rs1355515622 |
99 | T>I | No |
ClinGen gnomAD |
|
|
rs200331114 CA189444596 |
100 | K>E | No |
ClinGen gnomAD |
|
|
rs1247878787 CA372977567 |
100 | K>T | No |
ClinGen gnomAD |
|
|
rs757061812 CA4993731 |
103 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757980278 CA189444590 |
104 | A>T | No |
ClinGen gnomAD |
|
|
CA372977537 rs1405337580 |
104 | A>V | No |
ClinGen gnomAD |
|
|
rs1165929690 CA372977533 |
105 | S>* | No |
ClinGen gnomAD |
|
|
CA372977528 rs1387943512 |
106 | S>F | No |
ClinGen gnomAD |
|
|
CA4993729 rs778108645 |
106 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA372977521 rs1475468940 |
107 | D>G | No |
ClinGen gnomAD |
|
|
rs758651313 CA4993728 |
109 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4993727 rs752840326 |
109 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1157602959 CA372977483 |
113 | K>E | No |
ClinGen TOPMed |
|
|
rs765296080 CA4993725 |
113 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4993724 rs150955334 |
115 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4993723 rs754356320 |
116 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215427040 CA372977461 |
116 | S>N | No |
ClinGen gnomAD |
|
|
CA372977458 rs2821529 CA189444574 |
116 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372977449 rs1357121980 |
118 | S>A | No |
ClinGen TOPMed |
|
|
rs761000980 CA4993721 |
118 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA189444565 rs866468951 |
122 | T>N | No |
ClinGen gnomAD |
|
|
rs1305422833 CA372977416 |
123 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1305422833 CA372977417 |
123 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1305422833 CA372977415 |
123 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4993719 rs762532520 |
124 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372977404 rs1428258460 |
124 | H>R | No |
ClinGen gnomAD |
|
|
rs1171526472 CA372977402 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1587500390 CA372977390 |
126 | E>G | No |
ClinGen Ensembl |
|
|
CA372977385 rs1410248336 |
127 | K>E | No |
ClinGen gnomAD |
|
|
rs535397790 CA189444563 |
127 | K>T | No |
ClinGen Ensembl |
|
|
rs1421187157 CA372977375 |
128 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372977376 rs1421187157 |
128 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4993717 rs774863252 |
129 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893717012 CA189444558 |
130 | N>S | No |
ClinGen Ensembl |
|
|
rs1286593480 CA372977356 |
131 | E>A | No |
ClinGen TOPMed |
|
|
CA372977339 rs1302608555 |
132 | D>N | No |
ClinGen gnomAD |
|
|
CA372977334 rs1232609909 |
132 | D>V | No |
ClinGen TOPMed |
|
|
rs749410335 CA189444264 |
134 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4993685 rs749410335 |
134 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA372977320 rs1336710401 |
135 | K>E | No |
ClinGen TOPMed |
|
|
CA372977310 rs1159694548 |
136 | A>G | No |
ClinGen gnomAD |
|
|
rs756615693 CA4993683 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4993682 rs750923103 |
137 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1001300282 CA189444256 |
139 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4993681 rs767924101 |
139 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4993680 rs757616100 |
140 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549398356 CA4993679 |
141 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372977281 rs1485560915 |
141 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs549398356 CA372977284 |
141 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261845395 CA372977261 |
144 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372977244 rs764972297 |
147 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993678 rs764972297 |
147 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372977243 CA372977242 rs759060429 |
147 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993676 rs372879993 |
148 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372977170 rs1587482037 |
156 | Q>E | No |
ClinGen Ensembl |
|
|
rs372344500 CA4993652 |
158 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774203337 CA4993650 |
161 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4993649 rs768328653 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921084669 CA189442002 |
167 | T>A | No |
ClinGen TOPMed |
|
|
CA4993646 rs769897877 |
168 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372977090 rs1172645329 |
168 | A>V | No |
ClinGen gnomAD |
|
|
rs946583944 CA189441962 |
170 | A>G | No |
ClinGen TOPMed |
|
|
CA189441979 rs935437144 |
170 | A>P | No |
ClinGen TOPMed |
|
|
CA372977067 rs1490978027 |
173 | N>H | No |
ClinGen gnomAD |
|
|
rs367576816 CA189441954 |
175 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA372977004 rs1251460780 |
182 | R>Q | No |
ClinGen gnomAD |
|
|
CA372976998 rs758670344 |
183 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758670344 CA4993640 |
183 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993641 rs758670344 |
183 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189441938 rs956847517 |
184 | A>P | No |
ClinGen TOPMed |
|
|
rs776695490 CA4993621 |
185 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993620 rs770903908 |
186 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4993619 rs747601975 |
188 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4993618 rs773561984 |
189 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993617 rs772592281 |
190 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA372976740 rs1261756578 |
191 | P>L | No |
ClinGen TOPMed |
|
|
rs1450778390 CA372976743 |
191 | P>S | No |
ClinGen gnomAD |
|
|
rs1457959490 CA372976729 |
193 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 194 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195815666 CA372976713 |
195 | G>V | No |
ClinGen TOPMed |
|
|
CA372976684 CA372976685 rs1470964808 |
199 | M>I | No |
ClinGen gnomAD |
|
|
rs1383474814 CA372976682 |
200 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 201 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372976667 rs1404580057 |
202 | Q>E | No |
ClinGen TOPMed |
|
|
CA372976651 rs1470785710 |
204 | C>S | No |
ClinGen gnomAD |
|
|
CA4993614 rs755835945 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372976644 rs1165155112 |
205 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242078354 CA372976625 |
208 | S>C | No |
ClinGen gnomAD |
|
|
rs780809594 CA4993612 |
208 | S>R | No |
ClinGen ExAC |
|
|
rs1242078354 CA372976627 |
208 | S>R | No |
ClinGen gnomAD |
|
|
rs751551810 CA4993610 |
210 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4993611 rs756698301 |
210 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752625332 CA4993588 |
212 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752625332 CA372976583 |
212 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4993586 rs754738399 |
217 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993585 rs753629397 |
217 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs766532453 CA4993584 |
217 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA372976542 rs1350927947 |
218 | K>R | No |
ClinGen gnomAD |
|
|
rs760896619 CA4993583 |
221 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA372976479 rs1431495970 |
226 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1363101416 CA372976468 |
228 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4993582 rs368762970 |
230 | Q>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA372976442 rs1271645469 |
231 | P>L | No |
ClinGen TOPMed |
|
|
CA372976429 rs1333752732 |
233 | K>R | No |
ClinGen TOPMed |
|
|
rs1301797721 CA372976403 |
236 | E>D | No |
ClinGen gnomAD |
|
|
CA372976397 rs916851721 |
237 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1213906824 CA372976401 |
237 | G>S | No |
ClinGen TOPMed |
|
|
rs916851721 CA189436419 |
237 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1406803953 CA372976368 |
241 | E>G | No |
ClinGen gnomAD |
|
|
CA372976371 rs1165832328 |
241 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372976364 rs1166824966 |
242 | D>N | No |
ClinGen gnomAD |
|
|
CA372976362 rs1166824966 |
242 | D>Y | No |
ClinGen gnomAD |
|
|
rs1264405198 CA372976356 |
243 | K>E | No |
ClinGen gnomAD |
|
|
rs774973869 CA4993579 |
243 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4993578 rs374605313 |
244 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 246 | K>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA189436417 rs202213883 |
246 | K>R | No |
ClinGen 1000Genomes |
|
|
CA372976324 rs1444736852 |
247 | E>D | No |
ClinGen TOPMed |
|
|
rs188943134 CA4993576 |
248 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4993577 rs763254518 |
248 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA372976314 rs1272472580 |
249 | D>A | No |
ClinGen gnomAD |
|
|
rs1563870952 CA372976316 |
249 | D>Y | No |
ClinGen Ensembl |
|
|
CA372976301 rs1322961362 |
251 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4993573 rs777213657 |
252 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4993572 rs771555544 |
253 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA372976287 rs1281432465 |
253 | G>R | No |
ClinGen gnomAD |
|
|
CA372976276 rs1305402238 |
254 | K>N | No |
ClinGen gnomAD |
|
|
rs143334212 CA4993571 |
254 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372976261 rs1434944011 |
256 | E>D | No |
ClinGen gnomAD |
|
|
CA372976259 rs1185609759 |
257 | V>I | No |
ClinGen TOPMed |
|
|
rs192700013 CA4993569 |
260 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372976213 rs1587467768 |
263 | N>S | No |
ClinGen Ensembl |
|
|
CA372976201 rs1322950881 |
265 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs539797254 CA4993566 |
266 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1173627841 CA372976184 |
267 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 267 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173627841 CA372976185 |
267 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376631319 CA189436343 |
268 | G>E | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 269 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346367491 CA372976178 |
269 | V>I | No |
ClinGen TOPMed |
|
|
CA372976164 rs1291875192 |
271 | S>A | No |
ClinGen TOPMed |
|
|
CA372976159 rs1479511297 |
272 | T>A | No |
ClinGen gnomAD |
|
|
rs1479511297 CA372976160 |
272 | T>P | No |
ClinGen gnomAD |
|
|
COSM1107417 CA4993562 COSM1107416 rs751647340 |
274 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4993561 rs10962043 |
275 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs10962043 CA189436335 |
275 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4993560 rs148785652 |
278 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775722008 CA4993559 |
279 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs1448700242 CA372976078 |
282 | Q>E | No |
ClinGen TOPMed |
|
|
CA372976074 rs1285671752 |
282 | Q>H | No |
ClinGen gnomAD |
|
|
rs947711014 CA189436273 |
282 | Q>P | No |
ClinGen Ensembl |
|
|
CA4993556 rs770188794 |
284 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916232191 CA189436258 |
284 | G>S | No |
ClinGen Ensembl |
|
|
CA4993534 rs761389620 |
287 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA372975821 rs1466524294 |
290 | G>C | No |
ClinGen Ensembl |
|
|
rs768201275 CA4993532 |
291 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA189435312 rs868050334 |
291 | G>V | No |
ClinGen Ensembl |
|
|
CA372975773 rs1485834987 |
294 | F>L | No |
ClinGen gnomAD |
|
|
rs1297969374 CA372975762 |
294 | F>L | No |
ClinGen TOPMed |
|
|
rs1563869176 CA372975748 |
295 | Q>H | No |
ClinGen Ensembl |
|
|
CA372975703 rs1243129270 |
299 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 299 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219283433 CA372975646 |
303 | L>V | No |
ClinGen gnomAD |
|
|
CA372975623 rs1340790272 |
305 | G>S | No |
ClinGen TOPMed |
|
|
CA4993529 rs769573888 CA372975575 |
308 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM608227 CA4993528 rs200120477 COSM1650875 COSM608228 |
310 | E>A | lung Variant assessed as Somatic; 4.646e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757554088 CA4993526 |
311 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993527 rs781074128 |
311 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1289336306 | 312 | A>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372975515 rs1228649633 |
313 | D>G | No |
ClinGen gnomAD |
|
|
CA4993525 rs747229063 |
314 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778057284 CA4993524 |
314 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372975479 rs1487145673 |
316 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4993523 rs758481578 |
316 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs752679747 CA4993522 |
317 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201269437 CA189435268 |
318 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 320 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372975388 rs1489994668 |
322 | M>I | No |
ClinGen gnomAD |
|
|
CA372975393 rs1196528446 |
322 | M>T | No |
ClinGen gnomAD |
|
|
CA4993520 rs755383902 |
323 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761514208 CA4993517 |
325 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1488613550 CA372975356 |
325 | E>K | No |
ClinGen gnomAD |
|
|
CA372975336 rs1387707393 |
326 | Q>R | No |
ClinGen TOPMed |
|
|
rs1182975880 CA372974415 |
330 | D>Y | No |
ClinGen TOPMed |
|
|
rs1276946608 CA372974408 |
331 | E>Q | No |
ClinGen gnomAD |
|
|
rs200620037 CA4993425 |
332 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200620037 CA4993426 |
332 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372974393 rs1330113515 |
333 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4993424 rs754745423 |
334 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770185407 CA189433169 |
335 | P>A | No |
ClinGen TOPMed |
|
|
CA372974381 rs1174245428 |
335 | P>L | No |
ClinGen gnomAD |
|
|
CA189433165 rs770185407 |
335 | P>S | No |
ClinGen TOPMed |
|
|
CA4993421 rs779761524 |
339 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748345414 CA4993419 |
340 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237723354 CA372974338 |
341 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4993418 rs202106185 |
342 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767381479 CA4993417 CA372974331 |
342 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199748527 CA4993416 |
343 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751355232 CA4993415 |
343 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1107406 rs1253260060 CA372974323 |
344 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA189433134 rs368212391 |
344 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4993380 rs201902166 |
348 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4993379 COSM1107405 rs769340196 |
351 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs374039409 CA4993375 |
353 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777717521 CA4993374 |
354 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1278629030 COSM1107404 CA372974236 |
356 | H>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA189432489 rs941072423 |
356 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 361 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4993373 rs758281246 |
362 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4993371 rs776922635 |
365 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4993370 rs768692337 |
367 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1198997715 CA372974142 |
367 | N>S | No |
ClinGen TOPMed |
|
|
rs201370205 CA4993343 |
369 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780347835 CA4993344 |
369 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA189432281 rs536287269 |
369 | D>V | No |
ClinGen gnomAD |
|
|
rs1587454461 CA372974063 |
370 | V>L | No |
ClinGen Ensembl |
|
|
rs750538558 CA372974047 |
371 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA4993341 rs767705412 CA372974045 |
371 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs750538558 CA4993342 |
371 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757893193 CA4993340 |
374 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4993339 rs752080992 |
375 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 378 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372973680 rs1333444272 |
378 | D>H | No |
ClinGen gnomAD |
|
|
rs956538016 CA189432269 |
380 | L>P | No |
ClinGen Ensembl |
|
|
rs775666819 CA4993336 |
384 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993335 rs766032094 |
388 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1156497183 CA372973586 |
391 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA189432232 rs756784732 |
393 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4993334 rs760253132 |
394 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233260750 CA372973564 |
395 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772776478 CA4993333 |
396 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1462057643 CA372973549 |
397 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1255333841 CA372973543 |
397 | I>M | No |
ClinGen gnomAD |
|
|
CA4993310 COSM1554440 rs761406442 |
403 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372973493 rs1319935365 |
403 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1330620 rs1259531145 CA372973491 |
404 | R>G | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA372973470 rs867815405 |
407 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA189432070 rs867815405 |
407 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4993309 rs183152544 |
408 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4993308 rs768640507 |
409 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs1408498843 | 409 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421309824 CA372973447 |
410 | Q>H | No |
ClinGen gnomAD |
|
|
CA4993307 rs762792082 |
411 | V>I | No |
ClinGen ExAC |
|
|
rs1192711906 CA372973434 |
413 | M>V | No |
ClinGen gnomAD |
|
|
rs373573092 CA189432048 |
418 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4993305 rs572598401 |
418 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746137053 CA4993304 |
420 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA189432018 rs752023757 |
422 | K>E | No |
ClinGen TOPMed |
|
|
CA372973332 rs1290693747 |
426 | M>R | No |
ClinGen gnomAD |
|
|
CA4993302 rs771012227 |
429 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1410918865 CA372973284 |
433 | D>G | No |
ClinGen gnomAD |
|
|
CA4993301 rs145682359 |
434 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4993300 rs369700773 |
434 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372973274 rs1273437501 |
435 | V>M | No |
ClinGen gnomAD |
|
|
CA4993298 rs141982263 |
436 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4993297 rs779289059 |
438 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225822010 CA372973258 |
438 | Q>K | No |
ClinGen TOPMed |
|
|
CA372973236 rs1169941966 |
441 | N>S | No |
ClinGen gnomAD |
|
|
CA372973228 rs1421459155 |
442 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4993294 rs138825013 |
444 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372973216 rs138825013 |
444 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372973207 rs1477823859 |
445 | A>P | No |
ClinGen gnomAD |
|
|
rs761302611 CA4993293 |
447 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 447 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201037914 CA189431911 |
448 | R>G | No |
ClinGen 1000Genomes |
|
|
rs376012030 CA4993292 |
449 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372973156 rs376012030 |
449 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763494850 CA4993291 |
450 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA372973137 rs1237608411 |
450 | H>R | No |
ClinGen gnomAD |
|
|
CA4993290 rs763000735 |
453 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA189431881 rs979706824 |
455 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 455 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276964753 CA372973080 |
455 | K>T | No |
ClinGen gnomAD |
|
|
CA372973061 rs1218940055 |
456 | T>N | No |
ClinGen gnomAD |
|
|
rs371759432 CA4993289 |
459 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372973029 rs1181045277 |
459 | Q>P | No |
ClinGen TOPMed |
|
|
CA4993288 rs769818268 |
460 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1330092695 CA372972972 |
464 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563864795 CA372972961 |
465 | N>H | No |
ClinGen Ensembl |
|
|
CA189431870 rs992092747 |
465 | N>I | No |
ClinGen gnomAD |
|
|
rs1356135373 CA16040490 |
466 | K>R | No |
ClinGen gnomAD |
|
|
CA372972922 rs1413646864 |
468 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4993286 rs776512249 |
469 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372972916 rs1425578383 |
469 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1438061390 CA372972892 |
470 | K>N | No |
ClinGen gnomAD |
|
|
CA4993284 rs747193716 |
471 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993285 rs771190581 |
471 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000972791 rs61744944 CA4993282 |
472 | Q>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4993283 rs61744944 |
472 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4993230 rs753340175 |
474 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs908187059 CA189429943 |
475 | S>L | No |
ClinGen Ensembl |
|
|
CA372972634 rs1190150392 |
476 | K>E | No |
ClinGen gnomAD |
|
|
rs1198946440 CA372972625 |
476 | K>R | No |
ClinGen TOPMed |
|
|
CA189429933 rs759337368 |
478 | L>P | No |
ClinGen Ensembl |
|
|
CA4993226 rs35678110 RCV000888797 |
478 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1317213798 CA372972583 |
479 | N>K | No |
ClinGen gnomAD |
|
|
rs762067962 CA4993225 |
479 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372972571 COSM752961 rs1208687395 |
480 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA189429917 rs920981955 |
483 | D>E | No |
ClinGen Ensembl |
|
|
rs142155589 RCV000926682 CA4993224 |
484 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1310685576 CA372972513 |
485 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1310685576 CA372972516 |
485 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372972485 rs1587448557 |
486 | D>E | No |
ClinGen Ensembl |
|
|
rs1300903196 CA372972491 |
486 | D>G | No |
ClinGen gnomAD |
|
|
CA4993222 rs763047272 |
488 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4993223 rs763047272 |
488 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372972458 rs1478020185 |
489 | Q>K | No |
ClinGen TOPMed |
|
|
CA372972439 rs770210781 |
490 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4993219 rs760085843 |
490 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4993220 rs770210781 |
490 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372972424 rs1563863046 |
491 | Q>P | No |
ClinGen Ensembl |
|
|
CA4993217 rs375572787 |
494 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201652868 CA4993214 |
495 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779610320 CA4993213 |
496 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA372972378 rs1306721585 |
496 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4993212 rs779610320 |
496 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1454446427 CA372972376 |
497 | N>D | No |
ClinGen gnomAD |
|
|
rs750350689 CA4993211 |
497 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993210 rs750350689 |
497 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757071172 CA4993208 |
499 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs200651194 CA189429822 COSM54554 |
499 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1197458016 CA372972356 |
500 | S>G | No |
ClinGen gnomAD |
|
|
rs958031604 CA189429799 |
501 | K>E | No |
ClinGen gnomAD |
|
|
rs751310051 CA4993206 |
503 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1235370206 CA372972328 |
503 | N>S | No |
ClinGen gnomAD |
|
|
CA372972321 rs1033733877 |
504 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA189429758 rs1002304631 |
504 | H>R | No |
ClinGen Ensembl |
|
|
CA189429782 rs1033733877 |
504 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1239465994 CA372972313 |
505 | E>* | No |
ClinGen gnomAD |
|
|
rs1239465994 CA372972315 |
505 | E>K | No |
ClinGen gnomAD |
|
|
rs1336900801 CA372972291 |
506 | A>D | No |
ClinGen gnomAD |
|
|
CA4993205 rs144962736 |
507 | S>G | No |
ClinGen ESP ExAC |
|
|
rs145156584 CA372972282 |
507 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402012272 CA372972275 |
507 | S>R | No |
ClinGen gnomAD |
|
|
rs145156584 CA4993204 |
507 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752789885 CA372972268 |
508 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752789885 CA189429723 |
508 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752789885 CA4993203 |
508 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 510 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372972237 rs1156324091 |
510 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4993169 rs745400847 |
512 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993168 rs776056461 |
513 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs746939796 CA4993166 |
515 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372971974 rs1264627724 |
516 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768464354 CA4993165 |
516 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993164 rs574687096 |
516 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs779218966 CA4993162 |
518 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4993161 rs755087616 |
518 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs748249493 | 518 | E>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4993160 rs754038238 |
519 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 519 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238933901 CA372971913 |
520 | E>G | No |
ClinGen TOPMed |
|
|
rs756732844 CA4993157 |
521 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750926672 CA4993155 |
521 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4993156 rs756732844 |
521 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 522 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4993153 rs141196278 |
523 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1468134681 CA372971841 |
524 | K>R | No |
ClinGen gnomAD |
|
|
rs1216173741 CA372971827 |
525 | D>G | No |
ClinGen gnomAD |
|
|
CA4993152 rs762256313 |
525 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4993151 rs775682417 |
526 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA372971812 rs1456777112 |
526 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4993150 rs774525649 |
527 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764951991 CA4993149 |
529 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1374649979 CA372971774 |
529 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4993147 rs759186338 |
531 | N>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with O75475
Without disease ID
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| euchromatin | A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. |
| heterochromatin | A compact and highly condensed form of chromatin that is refractory to transcription. |
| nuclear periphery | The portion of the nuclear lumen proximal to the inner nuclear membrane. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| supercoiled DNA binding | Binding to supercoiled DNA. For example, during replication and transcription, template DNA is negatively supercoiled in the receding downstream DNA and positively supercoiled in the approaching downstream DNA. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA 5'-splice site recognition | Recognition of the intron 5'-splice site by components of the assembling spliceosome. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to heat | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XSK7 | HDGF | Hepatoma-derived growth factor | Bos taurus (Bovine) | PR |
| Q8MJG1 | PSIP1 | PC4 and SFRS1-interacting protein | Bos taurus (Bovine) | PR |
| Q66T72 | PSIP1 | PC4 and SFRS1-interacting protein | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q5XXA9 | PSIP1 | Lens epithelium-derived growth factor | Gallus gallus (Chicken) | PR |
| P51858 | HDGF | Hepatoma-derived growth factor | Homo sapiens (Human) | PR |
| Q7Z4V5 | HDGFL2 | Hepatoma-derived growth factor-related protein 2 | Homo sapiens (Human) | PR |
| Q9Y3E1 | HDGFL3 | Hepatoma-derived growth factor-related protein 3 | Homo sapiens (Human) | PR |
| P51859 | Hdgf | Hepatoma-derived growth factor | Mus musculus (Mouse) | PR |
| Q9JMG7 | Hdgfl3 | Hepatoma-derived growth factor-related protein 3 | Mus musculus (Mouse) | PR |
| Q99JF8 | Psip1 | PC4 and SFRS1-interacting protein | Mus musculus (Mouse) | PR |
| Q8VHK7 | Hdgf | Hepatoma-derived growth factor | Rattus norvegicus (Rat) | PR |
| Q923W4 | Hdgfl3 | Hepatoma-derived growth factor-related protein 3 | Rattus norvegicus (Rat) | PR |
| Q812D1 | Psip1 | PC4 and SFRS1-interacting protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTRDFKPGDL | IFAKMKGYPH | WPARVDEVPD | GAVKPPTNKL | PIFFFGTHET | AFLGPKDIFP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YSENKEKYGK | PNKRKGFNEG | LWEIDNNPKV | KFSSQQAATK | QSNASSDVEV | EEKETSVSKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DTDHEEKASN | EDVTKAVDIT | TPKAARRGRK | RKAEKQVETE | EAGVVTTATA | SVNLKVSPKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GRPAATEVKI | PKPRGRPKMV | KQPCPSESDI | ITEEDKSKKK | GQEEKQPKKQ | PKKDEEGQKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDKPRKEPDK | KEGKKEVESK | RKNLAKTGVT | STSDSEEEGD | DQEGEKKRKG | GRNFQTAHRR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NMLKGQHEKE | AADRKRKQEE | QMETEQQNKD | EGKKPEVKKV | EKKRETSMDS | RLQRIHAEIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NSLKIDNLDV | NRCIEALDEL | ASLQVTMQQA | QKHTEMITTL | KKIRRFKVSQ | VIMEKSTMLY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NKFKNMFLVG | EGDSVITQVL | NKSLAEQRQH | EEANKTKDQG | KKGPNKKLEK | EQTGSKTLNG |
| 490 | 500 | 510 | 520 | ||
| GSDAQDGNQP | QHNGESNEDS | KDNHEASTKK | KPSSEERETE | ISLKDSTLDN |