P26599
PR
Gene name |
PTBP1 (PTB) |
Protein name |
Polypyrimidine tract-binding protein 1 |
Names |
PTB, 57 kDa RNA-binding protein PPTB-1, Heterogeneous nuclear ribonucleoprotein I, hnRNP I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5725 |
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
13 structures for P26599
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1QM9 | NMR | - | A | 361-557 | PDB |
| 1SJQ | NMR | - | A | 55-147 | PDB |
| 1SJR | NMR | - | A | 147-327 | PDB |
| 2AD9 | NMR | - | A | 49-146 | PDB |
| 2ADB | NMR | - | A | 172-298 | PDB |
| 2ADC | NMR | - | A | 350-557 | PDB |
| 2EVZ | NMR | - | A | 350-557 | PDB |
| 2N3O | NMR | - | A | 41-163 | PDB |
| 3ZZY | X-ray | 140 A | A/B | 156-285 | PDB |
| 3ZZZ | X-ray | 155 A | A/B | 156-285 | PDB |
| 8BGF | NMR | - | A | 41-163 | PDB |
| 8BWF | X-ray | 290 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 57-140 | PDB |
| AF-P26599-F1 | Predicted | AlphaFoldDB |
416 variants for P26599
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1599210325 RCV001028100 |
1 | M>T | No |
ClinVar dbSNP |
|
|
CA9023653 rs756429007 |
2 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1386590877 CA402904946 |
2 | D>N | No |
ClinGen TOPMed |
|
|
CA402904954 rs370305724 |
3 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370305724 CA9023654 |
3 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402905802 rs1330766186 |
4 | I>T | No |
ClinGen gnomAD |
|
|
CA9023718 rs747669312 |
6 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747669312 CA303954937 |
6 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777275754 CA9023720 |
7 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765856272 CA402905865 |
8 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765856272 CA9023723 |
8 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023722 rs373436160 |
8 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9023724 rs775951734 |
9 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1198101364 CA402905888 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA402905896 rs1599216054 |
10 | V>G | No |
ClinGen Ensembl |
|
|
rs764346783 CA9023726 |
10 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9023727 rs764346783 |
10 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1599216065 CA402905904 |
11 | G>S | No |
ClinGen Ensembl |
|
|
rs1177536104 CA402905917 |
12 | T>A | No |
ClinGen gnomAD |
|
|
CA9023728 rs761941817 |
12 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455314090 CA402905940 |
13 | K>N | No |
ClinGen gnomAD |
|
|
CA9023773 rs140010693 |
16 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs568265756 CA9023774 |
17 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1191206603 CA402906400 |
18 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1371636991 CA402906394 |
18 | E>K | No |
ClinGen gnomAD |
|
|
rs1419985751 CA402906403 |
19 | L>V | No |
ClinGen gnomAD |
|
|
CA402906408 rs1424323786 |
20 | F>I | No |
ClinGen gnomAD |
|
|
rs758308355 CA402906415 |
20 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763816850 CA9023776 |
21 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9023777 rs150037050 |
22 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA303964066 rs150037050 |
22 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9023779 rs535598760 |
25 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745404825 CA9023780 |
26 | N>K | No |
ClinGen ExAC TOPMed |
|
|
rs755398240 CA9023781 CA402906451 |
27 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380614511 CA402906460 |
28 | P>L | No |
ClinGen gnomAD |
|
|
CA9023782 rs779514191 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA303964103 rs202040078 |
29 | F>L | No |
ClinGen 1000Genomes |
|
|
rs757290221 CA9023784 |
30 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268615109 CA402906469 |
30 | I>V | No |
ClinGen TOPMed |
|
|
rs1568266855 CA402906500 |
34 | N>D | No |
ClinGen Ensembl |
|
|
rs374567155 CA9023788 |
35 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA402906522 rs374567155 |
35 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759696186 CA9023790 |
36 | A>V | No |
ClinGen ExAC |
|
|
rs1272884536 CA402906540 |
37 | S>T | No |
ClinGen TOPMed |
|
|
rs572475852 CA9023793 |
38 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023825 rs757689896 |
39 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA402906567 rs1181143902 |
39 | A>T | No |
ClinGen gnomAD |
|
|
rs137874112 CA9023827 |
40 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199593449 CA303964872 |
41 | G>R | No |
ClinGen Ensembl |
|
|
CA303964887 rs769915654 |
42 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA9023829 rs780227531 |
42 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9023828 rs769915654 |
42 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402906709 rs769915654 |
42 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs142060501 CA9023830 |
46 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257514057 CA402906780 |
47 | F>L | No |
ClinGen gnomAD |
|
|
rs1296541727 CA402906812 |
49 | G>S | No |
ClinGen gnomAD |
|
|
CA402906863 rs1247562222 |
52 | R>Q | No |
ClinGen gnomAD |
|
|
rs761495007 CA9023833 |
53 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9023834 rs761495007 |
53 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9023836 rs140945539 |
54 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766040119 CA9023837 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753307845 CA402906882 |
55 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9023838 rs753307845 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA402906883 rs753307845 |
55 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9023841 rs752171101 |
56 | V>D | No |
ClinGen ExAC TOPMed |
|
|
rs534938589 CA9023840 |
56 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9023844 rs750769021 |
57 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402906907 rs1342072717 |
59 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402906946 rs1277436340 |
63 | I>V | No |
ClinGen gnomAD |
|
|
CA9023848 rs11549885 |
64 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402906966 rs1290662477 |
65 | K>Q | No |
ClinGen gnomAD |
|
|
CA9023849 rs778989485 |
66 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9023850 rs748051240 |
67 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771915665 CA9023851 |
68 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023854 rs199558877 |
68 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1193367224 CA402907011 |
68 | I>T | No |
ClinGen gnomAD |
|
|
rs771915665 CA9023852 |
68 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402907020 rs1182191622 |
69 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs575726131 CA303965037 |
70 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs759034696 COSM141532 CA9023856 |
71 | T>M | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759034696 CA303965041 |
71 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764799220 CA9023857 |
72 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9023859 rs61757783 CA303965057 |
74 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402907096 rs1568267615 |
75 | V>I | No |
ClinGen Ensembl |
|
|
CA402907187 rs1297324943 |
77 | S>F | No |
ClinGen gnomAD |
|
|
rs1447440374 CA402907188 |
78 | L>V | No |
ClinGen TOPMed |
|
|
CA402907225 rs1459039390 |
84 | K>E | No |
ClinGen TOPMed |
|
|
rs1456878377 CA402907255 |
88 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA402907268 rs1378872738 |
90 | M>I | No |
ClinGen TOPMed |
|
|
CA9023863 rs756591974 |
90 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA402907284 rs1444651211 |
93 | G>R | No |
ClinGen gnomAD |
|
|
CA402907295 rs1237582419 |
94 | K>R | No |
ClinGen gnomAD |
|
|
rs148060470 CA9023902 |
99 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1002348566 CA303965306 |
100 | E>K | No |
ClinGen TOPMed |
|
|
rs1452968841 CA402907375 |
103 | T>M | No |
ClinGen gnomAD |
|
|
CA402907387 rs1430558658 |
105 | E>A | No |
ClinGen TOPMed |
|
|
CA402907392 rs1376797856 |
106 | A>T | No |
ClinGen gnomAD |
|
|
rs760017044 CA9023904 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752922585 CA9023906 |
109 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs896674526 CA303965339 |
110 | M>T | No |
ClinGen TOPMed |
|
|
rs1476916702 CA402907417 |
110 | M>V | No |
ClinGen TOPMed |
|
|
CA402907427 rs1599228200 |
111 | V>A | No |
ClinGen Ensembl |
|
|
rs763084650 CA9023907 |
111 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9023909 rs751656120 |
113 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA303965381 rs11549886 |
116 | S>L | No |
ClinGen TOPMed |
|
|
rs1329668937 CA402907467 |
117 | V>A | No |
ClinGen gnomAD |
|
|
CA402907463 rs1201925796 |
117 | V>M | No |
ClinGen TOPMed |
|
|
CA402907474 rs1221023546 |
118 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA402907469 rs1599228271 |
118 | T>P | No |
ClinGen Ensembl |
|
|
CA303965395 rs1025854901 |
122 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9023912 rs368550018 |
122 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748820960 CA9023915 |
123 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9023914 rs779749577 |
123 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1266449525 CA402907513 |
125 | P>L | No |
ClinGen gnomAD |
|
|
rs199924491 CA402907519 |
126 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195547428 CA402907517 |
126 | I>T | No |
ClinGen gnomAD |
|
|
rs768368597 CA9023916 |
126 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9023918 rs370990875 |
128 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402907626 rs1304302891 |
135 | E>K | No |
ClinGen Ensembl |
|
|
CA402907707 rs751600974 |
139 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751600974 CA9023926 |
139 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs142836743 CA9023927 |
140 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292830992 CA402907781 |
142 | P>L | No |
ClinGen gnomAD |
|
|
rs1380968177 CA402907772 |
142 | P>S | No |
ClinGen gnomAD |
|
|
rs1038997342 CA303965529 |
143 | N>T | No |
ClinGen gnomAD |
|
|
CA9023928 rs767426752 |
144 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023929 rs750425323 |
145 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433123942 CA402907990 |
146 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9023971 rs759403032 |
149 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9023975 rs763874058 |
151 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295072402 CA402908116 |
153 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1295072402 CA402908119 |
153 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9023978 rs780418434 |
156 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9023981 rs779196642 |
157 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402908185 rs1219168037 |
158 | Q>P | No |
ClinGen TOPMed |
|
|
CA9023982 rs141978974 |
159 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402908196 rs1405668891 |
160 | G>R | No |
ClinGen TOPMed |
|
|
rs1339907013 CA402908205 |
161 | N>S | No |
ClinGen TOPMed |
|
|
rs771110728 CA9023986 |
162 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778103832 CA9023985 |
162 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9023989 rs759489086 |
163 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547286267 CA9023987 |
163 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759489086 CA9023988 |
163 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023991 rs762885310 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1345580624 CA402908217 |
164 | L>S | No |
ClinGen TOPMed |
|
|
rs775389239 CA9023990 |
164 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9023992 rs546374295 |
165 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023993 rs546374295 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402908236 rs1350087487 |
168 | A>T | No |
ClinGen gnomAD |
|
|
rs766992615 CA9023995 |
168 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9023996 rs571820277 |
169 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9023997 rs755434398 |
169 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753584151 CA9024001 |
171 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024000 rs758818339 |
171 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1358986470 CA402908255 |
172 | D>N | No |
ClinGen gnomAD |
|
|
CA402908263 rs150661031 |
173 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150661031 CA402908264 |
173 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150661031 CA9024003 RCV000894468 |
173 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781284434 CA9024004 |
173 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9024005 rs745977226 |
174 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1268312596 CA402908267 |
174 | G>R | No |
ClinGen gnomAD |
|
|
CA402908273 rs1474168893 |
175 | M>V | No |
ClinGen gnomAD |
|
|
rs1183065208 CA402908283 |
176 | A>S | No |
ClinGen gnomAD |
|
|
rs1183065208 CA402908281 |
176 | A>T | No |
ClinGen gnomAD |
|
|
rs144400768 CA9024007 |
176 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1445609238 CA402908291 |
177 | M>I | No |
ClinGen TOPMed |
|
|
rs996051508 CA402908287 |
177 | M>L | No |
ClinGen TOPMed |
|
|
rs1161462074 CA402908288 |
177 | M>T | No |
ClinGen gnomAD |
|
|
rs996051508 CA303966016 |
177 | M>V | No |
ClinGen TOPMed |
|
|
rs929468735 CA303966024 |
178 | A>S | No |
ClinGen TOPMed |
|
|
CA9024011 rs761475271 CA402908300 |
179 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9024014 rs760226303 |
182 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402908332 rs1428777542 |
184 | L>V | No |
ClinGen TOPMed |
|
|
rs1455924807 CA402908352 |
187 | I>V | No |
ClinGen gnomAD |
|
|
CA303966059 rs144269453 |
188 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA402908406 rs1364876001 |
194 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9024022 rs745923877 |
195 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780139995 CA9024025 |
197 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402908447 CA9024027 rs189076650 |
201 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402908443 rs1470420275 |
201 | H>Y | No |
ClinGen gnomAD |
|
|
rs1291231925 CA402908493 |
206 | K>M | No |
ClinGen TOPMed |
|
|
rs147803014 CA303966372 |
207 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402908505 rs1157655881 |
208 | G>S | No |
ClinGen TOPMed |
|
|
rs1362421789 CA402908511 |
209 | T>A | No |
ClinGen TOPMed |
|
|
CA9024060 rs139401694 |
213 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266783363 CA402908584 |
219 | N>K | No |
ClinGen TOPMed |
|
|
CA9024062 rs753929820 |
220 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA303966410 rs898720547 |
221 | Q>H | No |
ClinGen gnomAD |
|
|
CA9024067 COSM3404795 rs201221864 |
229 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1318092351 CA402908666 |
231 | P>L | No |
ClinGen gnomAD |
|
|
CA402908669 rs1249299700 |
232 | V>A | No |
ClinGen gnomAD |
|
|
rs756260935 CA9024071 |
232 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756260935 CA303966492 |
232 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM293670 rs775074950 CA9024073 |
234 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1428049609 CA402908715 |
239 | L>V | No |
ClinGen gnomAD |
|
|
CA9024114 rs779801036 |
240 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402908737 rs1178144258 |
241 | L>V | No |
ClinGen gnomAD |
|
|
rs754600468 CA9024117 |
242 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298560988 CA402908819 |
252 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1285170982 CA402908828 |
254 | R>C | No |
ClinGen gnomAD |
|
|
CA9024123 rs775749591 |
254 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402908829 rs775749591 |
254 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024125 rs373157311 |
255 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA303966948 rs1033918034 |
255 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9024126 rs774431350 |
256 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1251135895 CA402908855 |
258 | S>C | No |
ClinGen gnomAD |
|
|
rs1193261948 CA402908861 |
259 | K>R | No |
ClinGen gnomAD |
|
|
rs1193261948 CA402908860 |
259 | K>T | No |
ClinGen gnomAD |
|
|
rs765940609 CA9024131 |
261 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA402908878 rs1303915102 |
262 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9024132 rs753471794 |
262 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1303915102 CA402908879 |
262 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs540806046 CA9024134 |
265 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA402908935 rs1460328177 |
268 | N>D | No |
ClinGen gnomAD |
|
|
CA402908940 rs1408078079 |
268 | N>S | No |
ClinGen gnomAD |
|
|
CA303967023 rs1014085410 |
270 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1014085410 CA303967030 |
270 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs757674911 CA9024136 |
272 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs13560 CA9024137 |
273 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1237549200 CA402909021 |
273 | R>H | No |
ClinGen TOPMed |
|
|
rs13560 CA402909014 COSM3693231 |
273 | R>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs879131067 CA303967046 |
274 | D>N | No |
ClinGen Ensembl |
|
|
rs746206692 CA9024138 |
277 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9024139 rs770262479 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770262479 CA303967074 |
277 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208886468 CA402909094 |
278 | P>R | No |
ClinGen TOPMed |
|
|
CA9024140 rs780403518 |
278 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356766428 CA402909103 |
279 | D>Y | No |
ClinGen TOPMed |
|
|
CA9024143 rs774378284 |
284 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402909174 rs761997291 |
284 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771887031 CA9024145 |
287 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402909210 rs1568269693 |
287 | P>S | No |
ClinGen Ensembl |
|
|
rs147259741 CA9024146 |
288 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9024149 rs753707641 |
292 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765022699 CA9024151 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402909476 rs1404599064 |
294 | A>V | No |
ClinGen TOPMed |
|
|
CA9024153 rs757986216 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024154 COSM1222401 rs781548082 |
295 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA303967158 rs113258160 |
296 | A>T | No |
ClinGen Ensembl |
|
|
CA9024158 rs749689496 |
298 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347923405 CA402909617 |
299 | A>T | No |
ClinGen gnomAD |
|
|
rs755487270 CA9024198 |
299 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA402909644 rs1263141233 |
301 | G>A | No |
ClinGen gnomAD |
|
|
CA402909658 rs1297801986 |
302 | I>M | No |
ClinGen Ensembl |
|
|
rs367950139 CA303967628 |
302 | I>V | No |
ClinGen ESP |
|
|
CA9024199 rs765586353 |
304 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9024200 rs371821881 |
305 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402909723 rs1180809343 |
307 | P>L | No |
ClinGen gnomAD |
|
|
CA402909741 rs1481339928 |
308 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1481339928 CA402909743 |
308 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9024203 rs566559853 |
309 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1249136957 CA402909762 |
309 | A>V | No |
ClinGen TOPMed |
|
|
rs781427846 CA9024205 |
314 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274878591 CA402909859 |
315 | P>A | No |
ClinGen TOPMed |
|
|
rs1397455224 CA402909876 |
316 | T>A | No |
ClinGen gnomAD |
|
|
CA9024207 rs769877664 |
319 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402909931 rs769877664 |
319 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402909959 rs1359157166 |
320 | P>R | No |
ClinGen TOPMed |
|
|
rs775318813 CA9024208 |
320 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1368005295 CA402909962 |
321 | Q>* | No |
ClinGen gnomAD |
|
|
CA402909969 rs1406023293 |
322 | A>T | No |
ClinGen gnomAD |
|
|
CA9024209 rs749081345 |
322 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA402909975 rs1344275990 |
323 | A>P | No |
ClinGen gnomAD |
|
|
CA402909996 rs1159820102 |
324 | G>A | No |
ClinGen gnomAD |
|
|
CA402910000 rs1385003957 |
325 | L>F | No |
ClinGen gnomAD |
|
|
CA9024251 rs747900132 |
326 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs747900132 CA402910004 |
326 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs199877458 CA402910009 |
327 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9024252 rs199877458 |
327 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9024254 rs746526932 |
328 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776189806 CA9024256 |
329 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA402910039 rs199836672 |
331 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387205771 CA402910036 |
331 | H>R | No |
ClinGen TOPMed |
|
|
CA9024258 rs535139389 |
332 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9024260 rs762216708 |
333 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767861441 CA9024261 |
334 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1195981674 CA402910055 |
335 | A>P | No |
ClinGen TOPMed |
|
|
CA402910059 rs1183218139 |
335 | A>V | No |
ClinGen gnomAD |
|
|
CA402910060 rs1456302199 |
336 | P>S | No |
ClinGen gnomAD |
|
|
rs1456302199 CA402910061 |
336 | P>T | No |
ClinGen gnomAD |
|
|
rs1407851933 CA402910067 |
337 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9024264 rs189842365 |
338 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402910076 rs754904592 |
339 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754904592 CA9024266 |
339 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349795768 CA402910085 |
340 | P>R | No |
ClinGen gnomAD |
|
|
rs752502813 CA9024268 |
340 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375905582 CA303969322 |
341 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1324568910 CA402910097 |
342 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1203226130 CA402910102 |
343 | A>G | No |
ClinGen gnomAD |
|
|
rs1254452329 COSM3423364 CA402910108 |
344 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1481853696 CA402910114 |
345 | A>G | No |
ClinGen gnomAD |
|
|
rs374159299 CA9024283 |
347 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402910126 rs1242918624 |
347 | A>V | No |
ClinGen TOPMed |
|
|
CA9024284 rs745341451 |
348 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9024285 rs769305979 |
348 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480575187 CA402910136 |
349 | A>V | No |
ClinGen gnomAD |
|
|
rs773692627 CA9024289 |
352 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA402910154 rs766586041 |
353 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402910155 rs766586041 |
353 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766586041 CA9024291 |
353 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9024292 rs776597997 |
355 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402910166 rs776597997 |
355 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402910176 rs1299540664 |
356 | G>V | No |
ClinGen gnomAD |
|
|
rs765164475 CA9024294 |
357 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs758317861 CA9024297 |
358 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024296 rs758317861 |
358 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225313667 CA402910193 |
360 | A>S | No |
ClinGen gnomAD |
|
|
rs1225313667 CA402910191 |
360 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs992411775 CA303969486 |
360 | A>V | No |
ClinGen gnomAD |
|
|
rs745379794 CA9024301 |
361 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9024302 rs377178876 |
363 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377178876 CA402910213 |
363 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574066619 CA303969529 |
364 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1389280415 CA402910226 |
366 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA303969558 rs975864726 |
369 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs141393890 CA9024307 |
372 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379223584 CA402910426 |
376 | T>I | No |
ClinGen TOPMed |
|
|
CA402910446 rs1471051958 |
379 | S>I | No |
ClinGen gnomAD |
|
|
CA402910470 rs1337842837 |
383 | L>I | No |
ClinGen gnomAD |
|
|
CA9024341 rs138165723 |
384 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406311078 CA402910530 |
390 | V>M | No |
ClinGen gnomAD |
|
|
rs746940924 CA9024378 |
401 | E>K | No |
ClinGen ExAC |
|
|
CA402910650 rs1248855330 |
407 | M>L | No |
ClinGen gnomAD |
|
|
rs762310485 CA9024385 |
408 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775085447 CA9024383 |
408 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA402910657 rs775085447 |
408 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9024384 rs762310485 |
408 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756595552 CA9024387 |
409 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA402910670 rs1384548299 |
410 | G>A | No |
ClinGen gnomAD |
|
|
CA9024388 rs766775155 |
410 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024390 rs202193666 |
411 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402910676 rs202193666 |
411 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402910682 rs1599240153 |
412 | Q>P | No |
ClinGen Ensembl |
|
|
rs1384938150 CA402910700 |
414 | Q>H | No |
ClinGen gnomAD |
|
|
CA402910706 rs1354392982 |
416 | A>S | No |
ClinGen gnomAD |
|
|
rs763300234 CA9024432 |
417 | M>R | No |
ClinGen ExAC |
|
|
CA303974007 rs868533322 |
419 | H>Q | No |
ClinGen gnomAD |
|
|
CA9024435 rs757338983 CA402910760 |
422 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750381986 CA9024437 |
424 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9024438 rs756054178 |
425 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9024440 rs749065324 CA402910792 |
427 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201414173 CA402910802 |
428 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754642106 CA9024441 |
428 | K>R | No |
ClinGen ExAC |
|
|
CA402910805 rs1299430621 |
429 | P>A | No |
ClinGen gnomAD |
|
|
CA402910811 rs1599240784 |
429 | P>H | No |
ClinGen Ensembl |
|
|
CA9024445 rs772757567 |
430 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs746404857 CA9024446 |
431 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA402910826 rs746404857 |
431 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9024447 rs529850075 |
432 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402910845 rs1330922046 |
432 | I>M | No |
ClinGen TOPMed |
|
|
rs1281722618 CA402910857 |
433 | T>M | No |
ClinGen TOPMed |
|
|
rs763350227 CA9024449 |
434 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1488620282 CA402910868 |
434 | L>R | No |
ClinGen gnomAD |
|
|
rs200590392 CA9024453 |
438 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402910924 rs1168920945 |
438 | Q>R | No |
ClinGen gnomAD |
|
|
rs756034141 CA9024455 |
443 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766285321 CA9024456 |
444 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402911057 rs1367610568 |
445 | E>K | No |
ClinGen gnomAD |
|
|
rs1297246141 CA402911127 |
449 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402911132 rs1297246141 |
449 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA402911159 rs1363672701 |
450 | Q>H | No |
ClinGen gnomAD |
|
|
rs1230487681 CA402911225 |
455 | D>N | No |
ClinGen gnomAD |
|
|
CA402911263 rs758037603 |
457 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024461 rs758037603 |
457 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116167690 CA402911284 |
458 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777181011 CA9024462 |
458 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199548001 CA402911300 |
460 | P>T | No |
ClinGen TOPMed |
|
|
rs775997330 CA9024465 |
461 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1183581222 CA402911403 |
467 | P>L | No |
ClinGen gnomAD |
|
|
rs1455958903 CA402911483 |
473 | Q>H | No |
ClinGen gnomAD |
|
|
CA402911510 rs773181415 |
475 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9024472 rs760743333 |
476 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA303974235 rs989486637 |
477 | P>L | No |
ClinGen gnomAD |
|
|
rs989486637 CA402911532 |
477 | P>Q | No |
ClinGen gnomAD |
|
|
rs766369999 CA9024473 |
477 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402911637 rs1211964575 |
486 | N>S | No |
ClinGen gnomAD |
|
|
rs893473665 CA303974282 |
488 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9024539 rs746083221 |
489 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9024542 rs749288312 |
493 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775409308 CA9024541 |
493 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9024543 rs768434488 |
496 | L>F | No |
ClinGen ExAC |
|
|
rs774215421 CA9024544 |
498 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9024547 rs762327839 |
502 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760385060 CA303976852 |
503 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024548 rs760385060 |
503 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473531020 CA402912574 |
504 | G>E | No |
ClinGen gnomAD |
|
|
rs1334018782 CA402912596 |
505 | G>V | No |
ClinGen TOPMed |
|
|
CA9024551 rs758967858 |
506 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146498992 RCV000906631 CA9024554 |
507 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9024555 rs781522821 |
508 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402912666 rs1293435116 |
509 | G>R | No |
ClinGen gnomAD |
|
|
CA303976927 rs1024430116 |
511 | K>R | No |
ClinGen Ensembl |
|
|
rs746136836 CA9024556 |
514 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA303977069 rs751159489 |
515 | K>R | No |
ClinGen Ensembl |
|
|
rs1156701309 CA402912933 |
516 | D>G | No |
ClinGen gnomAD |
|
|
rs1379190510 CA402912940 |
517 | R>C | No |
ClinGen gnomAD |
|
|
rs1466338768 CA402912950 |
517 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs944480758 CA303977080 |
523 | Q>R | No |
ClinGen Ensembl |
|
|
rs777733340 CA9024583 |
524 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA402913069 rs1372913403 |
527 | V>M | No |
ClinGen gnomAD |
|
|
rs770622396 CA9024585 |
529 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs776215207 CA9024586 |
530 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9024588 rs769235788 |
533 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372100660 CA9024590 |
534 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767958955 CA9024591 |
535 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9024593 rs760878935 |
540 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754058428 CA9024595 |
541 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1393210401 CA402913258 |
542 | L>V | No |
ClinGen gnomAD |
|
|
rs1169109323 CA402913271 CA402913269 |
543 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs559606882 CA9024597 |
545 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402913326 rs1599248210 |
547 | H>P | No |
ClinGen Ensembl |
|
|
CA9024599 rs758423418 |
547 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402913335 rs777786718 |
548 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9024601 rs746940855 |
549 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA402913428 rs1295463742 |
556 | T>I | No |
ClinGen gnomAD |
|
|
rs775003176 CA9024606 |
557 | I>M | No |
ClinGen ExAC gnomAD |
No associated diseases with P26599
7 regional properties for P26599
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 59 - 143 | IPR000504-1 |
| domain | RNA recognition motif domain | 184 - 260 | IPR000504-2 |
| domain | RNA recognition motif domain | 363 - 437 | IPR000504-3 |
| domain | RNA recognition motif domain | 480 - 555 | IPR000504-4 |
| domain | PTBP1-like, RNA recognition motif 2 | 178 - 258 | IPR021790 |
| domain | PTBP1, RNA recognition motif 1 | 59 - 139 | IPR035000 |
| domain | PTBP1, RNA recognition motif 3 | 364 - 456 | IPR035001 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| poly-pyrimidine tract binding | Binding to a stretch of pyrimidines (cytosine or uracil) in an RNA molecule. |
| pre-mRNA binding | Binding to a pre-messenger RNA (pre-mRNA), an intermediate molecule between DNA and protein that may contain introns and, at least in part, encodes one or more proteins. Introns are removed from pre-mRNA to form a mRNA molecule. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| IRES-dependent viral translational initiation | Process by which viral mRNA translation is initiated, where a domain in the 5' untranslated region (UTR) of the viral mRNA called an internal ribosome entry site (IRES) binds the host 43S preinitiation complex, circumventing regular cap-dependent translation initiation. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| negative regulation of mRNA splicing, via spliceosome | Any process that stops, prevents or reduces the rate or extent of mRNA splicing via a spliceosomal mechanism. |
| negative regulation of muscle cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. |
| negative regulation of RNA splicing | Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. |
| positive regulation of calcineurin-NFAT signaling cascade | Any process that activates or increases the frequency, rate or extent of signaling via the calcineurin-NFAT signaling cascade. |
| positive regulation of protein dephosphorylation | Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein. |
| regulation of alternative mRNA splicing, via spliceosome | Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| regulation of RNA splicing | Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8WVV9 | HNRNPLL | Heterogeneous nuclear ribonucleoprotein L-like | Homo sapiens (Human) | PR |
| P17225 | Ptbp1 | Polypyrimidine tract-binding protein 1 | Mus musculus (Mouse) | PR |
| Q29099 | PTBP1 | Polypyrimidine tract-binding protein 1 | Sus scrofa (Pig) | PR |
| Q00438 | Ptbp1 | Polypyrimidine tract-binding protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDGIVPDIAV | GTKRGSDELF | STCVTNGPFI | MSSNSASAAN | GNDSKKFKGD | SRSAGVPSRV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IHIRKLPIDV | TEGEVISLGL | PFGKVTNLLM | LKGKNQAFIE | MNTEEAANTM | VNYYTSVTPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRGQPIYIQF | SNHKELKTDS | SPNQARAQAA | LQAVNSVQSG | NLALAASAAA | VDAGMAMAGQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SPVLRIIVEN | LFYPVTLDVL | HQIFSKFGTV | LKIITFTKNN | QFQALLQYAD | PVSAQHAKLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDGQNIYNAC | CTLRIDFSKL | TSLNVKYNND | KSRDYTRPDL | PSGDSQPSLD | QTMAAAFGAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GIISASPYAG | AGFPPTFAIP | QAAGLSVPNV | HGALAPLAIP | SAAAAAAAAG | RIAIPGLAGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GNSVLLVSNL | NPERVTPQSL | FILFGVYGDV | QRVKILFNKK | ENALVQMADG | NQAQLAMSHL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NGHKLHGKPI | RITLSKHQNV | QLPREGQEDQ | GLTKDYGNSP | LHRFKKPGSK | NFQNIFPPSA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLHLSNIPPS | VSEEDLKVLF | SSNGGVVKGF | KFFQKDRKMA | LIQMGSVEEA | VQALIDLHNH |
| 550 | |||||
| DLGENHHLRV | SFSKSTI |