P13797
PR
Gene name |
PLS3 |
Protein name |
Plastin-3 |
Names |
T-plastin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5358 |
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
238 variants for P13797
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001254100 rs2074664927 |
73 | S>missing | Bone mineral density quantitative trait locus 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074379 rs397518463 |
79 | Y>missing | Bone mineral density quantitative trait locus 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000496987 rs1135402748 |
86 | S>missing | Bone mineral density quantitative trait locus 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990931 rs1603241972 |
172 | L>missing | Bone mineral density quantitative trait locus 18 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070278 | 253 | A>AN | OSTEOP; associated with disease susceptibility [UniProt] | Yes | UniProt |
|
rs397518421 CA145305 RCV000074380 |
491 | Q>* | Bone mineral density quantitative trait locus 18 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782561936 CA10496811 |
2 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10496812 rs782203071 |
3 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1327185824 CA414330203 |
9 | I>S | No |
ClinGen TOPMed |
|
|
CA414330236 rs1556635937 |
12 | D>E | No |
ClinGen gnomAD |
|
|
rs782058157 CA10496814 |
14 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556635940 CA414330272 |
15 | D>E | No |
ClinGen gnomAD |
|
|
CA414330282 rs1556635942 |
16 | E>G | No |
ClinGen gnomAD |
|
|
rs1556635945 CA414330311 |
19 | E>Q | No |
ClinGen Ensembl |
|
|
rs2074663472 RCV001269504 |
26 | L>missing | No |
ClinVar dbSNP |
|
|
CA414331324 rs1017191400 |
26 | L>H | No |
ClinGen gnomAD |
|
|
rs1017191400 CA334697361 |
26 | L>P | No |
ClinGen gnomAD |
|
|
CA414331333 rs1556637739 |
27 | N>K | No |
ClinGen gnomAD |
|
|
CA10496836 rs145235506 |
29 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388843994 CA414331387 |
35 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782316690 CA10496837 COSM487838 |
37 | L>P | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA414331422 rs1291628203 |
39 | E>D | No |
ClinGen TOPMed |
|
|
rs781944956 CA10496838 |
42 | K>R | No |
ClinGen ExAC |
|
|
CA10496839 rs782090562 COSM610305 |
43 | E>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 47 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 51 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 54 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414331531 rs1161310924 |
55 | E>G | No |
ClinGen TOPMed |
|
|
CA10496841 rs781985166 |
55 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933676036 CA334697364 |
57 | I>V | No |
ClinGen gnomAD |
|
|
rs987712053 CA334697365 |
63 | D>G | No |
ClinGen TOPMed |
|
|
rs373153000 CA10496842 |
65 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377475836 CA334697366 |
70 | G>E | No |
ClinGen ESP |
|
|
CA334697368 rs782384205 |
76 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs186923237 CA334697367 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs1556638885 CA414332624 |
83 | E>D | No |
ClinGen gnomAD |
|
|
rs1556638883 CA414332620 |
83 | E>G | No |
ClinGen gnomAD |
|
|
CA334697782 rs968550437 |
94 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10496865 rs782676126 |
94 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1219150542 CA414332926 |
104 | C>R | No |
ClinGen TOPMed |
|
|
rs1358429934 CA414332942 |
105 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 108 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556638909 CA414333043 |
112 | L>F | No |
ClinGen gnomAD |
|
|
CA414333073 rs1556638915 |
115 | E>K | No |
ClinGen gnomAD |
|
|
rs1305683228 CA414333150 |
120 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 124 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556639006 CA414333377 |
134 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782035535 CA10496885 |
139 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141907957 CA10496888 |
146 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425489956 CA414333505 |
147 | I>V | No |
ClinGen TOPMed |
|
|
rs1556639017 CA414333553 |
154 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1603240251 CA414333587 |
158 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 159 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457798192 CA414333596 |
160 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414333626 rs1556639026 |
164 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 166 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10496907 rs782429431 |
172 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA334698073 rs1027209292 |
178 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM456553 CA10496909 rs781990552 |
185 | K>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs782133928 CA10496910 |
190 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342960992 CA414333835 |
193 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10496919 rs782227015 |
201 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414333944 rs1556639945 |
207 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 211 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10496922 rs367830488 |
214 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2074815332 RCV001269828 |
216 | A>V | No |
ClinVar dbSNP |
|
|
rs1417602274 CA414334046 |
222 | G>R | No |
ClinGen TOPMed |
|
|
rs1603242281 CA414334065 |
224 | P>L | No |
ClinGen Ensembl |
|
|
CA414334095 rs1556639959 |
229 | G>V | No |
ClinGen gnomAD |
|
|
rs782395250 CA10496925 |
230 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484621202 CA414334168 |
240 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414334175 rs1603242326 |
241 | A>T | No |
ClinGen Ensembl |
|
|
rs375187925 CA10496928 |
241 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782335087 CA10496952 |
253 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414334294 rs1194209583 |
256 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs868914088 CA414334336 |
262 | E>G | No |
ClinGen Ensembl |
|
|
rs1434630697 CA414334357 |
265 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10496954 rs782248140 |
265 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA414334398 rs1556640346 |
271 | E>Q | No |
ClinGen gnomAD |
|
|
CA414334438 rs868936795 |
277 | A>T | No |
ClinGen Ensembl |
|
|
rs782389004 CA10496955 |
278 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs962003608 CA334698244 |
278 | N>T | No |
ClinGen Ensembl |
|
|
rs1265005159 CA414334452 |
279 | F>L | No |
ClinGen TOPMed |
|
|
CA414334482 rs1556640355 |
283 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868995558 COSM1113537 CA414334507 |
286 | W>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10496957 rs782053765 |
287 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10496959 rs782706116 |
289 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10496958 rs782706116 |
289 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334698246 rs369914417 |
293 | S>G | No |
ClinGen ESP gnomAD |
|
|
CA414334583 rs1569528896 |
297 | K>E | No |
ClinGen Ensembl |
|
|
rs1209089426 CA414334586 |
297 | K>R | No |
ClinGen TOPMed |
|
|
CA334698446 rs202076515 |
298 | D>N | No |
ClinGen Ensembl |
|
|
rs1556640849 CA414334728 |
304 | H>R | No |
ClinGen gnomAD |
|
|
rs1319576088 CA414334734 |
305 | L>V | No |
ClinGen TOPMed |
|
|
CA414334750 rs1556640859 |
307 | N>K | No |
ClinGen gnomAD |
|
|
rs1039720584 CA334698448 |
308 | Q>K | No |
ClinGen Ensembl |
|
|
CA10496979 rs782362372 |
309 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10496978 rs140968059 |
309 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10496980 rs781988960 |
310 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556640870 CA414334816 |
317 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490213036 CA414334834 |
320 | R>Q | No |
ClinGen TOPMed |
|
|
rs137917062 CA10496981 |
320 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10496983 rs782042501 |
321 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10496982 rs782408161 |
321 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414334846 rs1216406602 |
322 | D>G | No |
ClinGen TOPMed |
|
|
rs142569974 CA10496984 |
325 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10496985 rs782708632 |
329 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414334897 rs782708632 |
329 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354666692 CA414334922 |
331 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1556641251 CA414334945 |
334 | L>W | No |
ClinGen gnomAD |
|
|
CA10496995 rs782245592 COSM1195395 |
337 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782682790 CA10496997 |
340 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10496998 rs782296803 |
344 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556641255 CA414335030 |
346 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431609766 CA414335060 |
350 | R>K | No |
ClinGen TOPMed |
|
|
rs781930518 CA10497000 |
351 | Q>P | No |
ClinGen ExAC |
|
| TCGA novel | 354 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497001 rs782210200 |
354 | T>S | No |
ClinGen ExAC |
|
|
CA414335102 rs1556641265 |
356 | A>V | No |
ClinGen gnomAD |
|
|
CA414335117 rs1556641267 |
359 | V>I | No |
ClinGen gnomAD |
|
|
rs1556641269 CA414335126 |
360 | S>N | No |
ClinGen gnomAD |
|
|
CA414335155 rs1405547633 |
364 | K>R | No |
ClinGen TOPMed |
|
|
rs1556641275 CA414335195 |
370 | V>M | No |
ClinGen gnomAD |
|
|
CA414335229 rs1556641278 |
375 | N>D | No |
ClinGen gnomAD |
|
|
CA10497005 rs782786594 |
375 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414335243 rs1556641280 |
377 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 379 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 380 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414335294 rs1556641287 |
384 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10497006 rs782600450 |
385 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 392 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414335349 rs1184953484 |
392 | L>V | No |
ClinGen TOPMed |
|
|
CA414335359 rs1482389059 |
393 | L>F | No |
ClinGen TOPMed |
|
|
CA10497021 rs377411857 |
398 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10497022 rs782290456 |
398 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 398 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201842598 CA10497024 |
404 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 410 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414335498 rs1393720911 |
412 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 413 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497027 rs782007253 |
413 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782766471 CA10497026 |
413 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA414335518 rs1450367091 |
415 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10497030 rs781795549 |
417 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs868963601 CA414335539 |
418 | H>Y | No |
ClinGen Ensembl |
|
|
COSM201715 CA10497031 rs370999829 |
421 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475786322 CA414335580 |
422 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10497048 rs782412156 |
431 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1556641647 CA414335658 |
434 | E>K | No |
ClinGen Ensembl |
|
|
CA414335668 rs1483121363 |
435 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1233867462 CA414335695 |
439 | P>L | No |
ClinGen TOPMed |
|
|
rs782332724 CA10497051 |
443 | S>R | No |
ClinGen ExAC |
|
| TCGA novel | 446 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497053 rs782091478 |
448 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556641663 CA414335806 |
455 | A>V | No |
ClinGen gnomAD |
|
|
rs888871793 CA414335814 |
456 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1556641666 COSM1113540 CA414335812 |
456 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 459 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497072 rs782415412 |
464 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs1251162563 CA414335956 |
474 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 476 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 478 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497074 rs782050942 |
480 | G>A | No |
ClinGen ExAC |
|
| VAR_035462 | 488 | D>A | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA10497092 rs782375662 |
506 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414336185 rs1569529325 |
506 | T>S | No |
ClinGen Ensembl |
|
|
CA414336196 rs1556641925 |
508 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1409221761 CA414336215 |
511 | E>V | No |
ClinGen TOPMed |
|
|
CA414336223 rs1160655793 |
512 | D>G | No |
ClinGen TOPMed |
|
|
CA414336233 rs1602441585 |
514 | G>R | No |
ClinGen Ensembl |
|
|
rs199893556 CA334698861 |
516 | G>S | No |
ClinGen Ensembl |
|
|
CA414336264 rs1556641932 |
518 | K>I | No |
ClinGen gnomAD |
|
|
rs782820026 CA10497095 |
520 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1556641942 CA414336291 |
522 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1556641946 CA414336327 |
527 | W>G | No |
ClinGen gnomAD |
|
|
CA414336353 rs1194340362 |
530 | R>S | No |
ClinGen TOPMed |
|
|
CA10497097 rs782070765 |
531 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334698862 rs899313023 |
533 | S>C | No |
ClinGen Ensembl |
|
|
CA10497100 rs377191528 |
533 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10497101 rs782772855 |
535 | A>T | No |
ClinGen ExAC |
|
|
CA10497102 rs150069454 |
539 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10497103 rs782541666 |
539 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782576315 CA414336417 |
541 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs782576315 CA10497104 |
541 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 542 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414336426 rs1286504570 |
542 | Q>R | No |
ClinGen TOPMed |
|
|
rs191246889 CA10497105 |
543 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
TCGA novel CA10497106 rs782481353 |
543 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
| TCGA novel | 547 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298582953 CA414336476 |
547 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10497115 rs782754510 |
548 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782144812 CA10497117 |
549 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556641984 CA414336516 |
553 | L>S | No |
ClinGen gnomAD |
|
|
rs181782110 CA334698868 |
554 | A>E | No |
ClinGen 1000Genomes |
|
|
CA10497119 rs781787553 |
561 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414336585 rs1556641988 |
563 | Q>H | No |
ClinGen gnomAD |
|
|
rs1556641990 CA414336613 |
567 | I>M | No |
ClinGen gnomAD |
|
|
rs868923755 CA414336624 |
569 | Y>H | No |
ClinGen Ensembl |
|
|
CA414336641 rs1556641995 |
571 | L>P | No |
ClinGen gnomAD |
|
|
rs782721109 CA10497121 |
576 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs149142111 CA10497122 |
578 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10497123 rs782520465 |
580 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA10497125 rs781908458 |
584 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10497142 rs781811946 |
594 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs782476324 CA10497143 |
595 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782616494 CA10497144 |
595 | R>K | No |
ClinGen ExAC |
|
|
rs1357550594 CA414336848 |
600 | V>M | No |
ClinGen TOPMed |
|
|
rs782505445 CA10497146 |
601 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414336896 rs1556642194 |
607 | L>V | No |
ClinGen gnomAD |
|
|
rs782668958 CA10497147 |
608 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA414336940 rs1423990486 |
613 | K>N | No |
ClinGen TOPMed |
|
|
rs782291641 CA10497148 |
614 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782309266 CA10497149 |
616 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782581939 CA10497150 |
617 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 618 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556642200 CA414336994 |
621 | C>F | No |
ClinGen gnomAD |
|
|
rs782219245 CA10497151 |
625 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782361658 CA10497152 |
627 | M>I | No |
ClinGen ExAC |
|
|
CA414337053 rs1556642210 |
629 | R>S | No |
ClinGen gnomAD |
|
|
CA10497153 rs781984626 |
630 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 631 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P13797
[MIM: 166710]: Osteoporosis (OSTEOP)
A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269|PubMed:24088043}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269|PubMed:24088043}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
10 regional properties for P13797
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Actinin-type actin-binding domain, conserved site | 211 - 235 | IPR001589-1 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 399 - 408 | IPR001589-2 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 478 - 502 | IPR001589-3 |
| domain | Calponin homology domain | 123 - 239 | IPR001715-1 |
| domain | Calponin homology domain | 267 - 378 | IPR001715-2 |
| domain | Calponin homology domain | 397 - 506 | IPR001715-3 |
| domain | Calponin homology domain | 518 - 627 | IPR001715-4 |
| domain | EF-hand domain | 12 - 87 | IPR002048 |
| binding_site | EF-Hand 1, calcium-binding site | 25 - 37 | IPR018247-1 |
| binding_site | EF-Hand 1, calcium-binding site | 65 - 77 | IPR018247-2 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| actin filament bundle | An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| actin filament network formation | The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments. |
| bone development | The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9SJ84 | FIM4 | Fimbrin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FKI0 | FIM5 | Fimbrin-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FJ70 | FIM3 | Fimbrin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7G188 | FIM1 | Fimbrin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDEMATTQIS | KDELDELKEA | FAKVDLNSNG | FICDYELHEL | FKEANMPLPG | YKVREIIQKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MLDGDRNKDG | KISFDEFVYI | FQEVKSSDIA | KTFRKAINRK | EGICALGGTS | ELSSEGTQHS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YSEEEKYAFV | NWINKALEND | PDCRHVIPMN | PNTDDLFKAV | GDGIVLCKMI | NLSVPDTIDE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RAINKKKLTP | FIIQENLNLA | LNSASAIGCH | VVNIGAEDLR | AGKPHLVLGL | LWQIIKIGLF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADIELSRNEA | LAALLRDGET | LEELMKLSPE | ELLLRWANFH | LENSGWQKIN | NFSADIKDSK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AYFHLLNQIA | PKGQKEGEPR | IDINMSGFNE | TDDLKRAESM | LQQADKLGCR | QFVTPADVVS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GNPKLNLAFV | ANLFNKYPAL | TKPENQDIDW | TLLEGETREE | RTFRNWMNSL | GVNPHVNHLY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ADLQDALVIL | QLYERIKVPV | DWSKVNKPPY | PKLGANMKKL | ENCNYAVELG | KHPAKFSLVG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IGGQDLNDGN | QTLTLALVWQ | LMRRYTLNVL | EDLGDGQKAN | DDIIVNWVNR | TLSEAGKSTS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IQSFKDKTIS | SSLAVVDLID | AIQPGCINYD | LVKSGNLTED | DKHNNAKYAV | SMARRIGARV |
| 610 | 620 | ||||
| YALPEDLVEV | KPKMVMTVFA | CLMGRGMKRV |