Q12996
Gene name |
CSTF3 |
Protein name |
Cleavage stimulation factor subunit 3 |
Names |
CF-1 77 kDa subunit, Cleavage stimulation factor 77 kDa subunit, CSTF 77 kDa subunit, CstF-77 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1479 |
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
4 structures for Q12996
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6B3X | X-ray | 230 A | B | 581-600 | PDB |
| 6URO | EM | 360 A | E/F | 1-717 | PDB |
| 7ZY4 | X-ray | 255 A | A/B | 241-549 | PDB |
| AF-Q12996-F1 | Predicted | AlphaFoldDB |
240 variants for Q12996
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA380004544 rs1457070110 |
4 | D>N | No |
ClinGen gnomAD |
|
|
CA380004536 rs1258117306 |
5 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380004519 rs1320616744 |
7 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA380004524 rs1202764648 |
7 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs543353295 CA219562684 |
9 | Q>P | No |
ClinGen Ensembl |
|
|
CA380000302 rs1173190902 |
11 | A>D | No |
ClinGen gnomAD |
|
|
rs1023167813 CA219556544 COSM1353588 COSM1353589 |
23 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 25 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA219556536 rs201161735 |
29 | P>L | No |
ClinGen 1000Genomes |
|
|
rs146141311 CA5938262 |
29 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198017824 CA380000121 |
36 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770748628 CA5938244 |
44 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs988931195 CA380000035 |
45 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1351261106 CA380000024 |
47 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA380000028 rs1212682297 |
47 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379999997 rs1240382013 |
51 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1459100494 CA379999998 |
51 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5938242 rs773179561 |
52 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5938239 rs370295642 |
56 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 57 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754549742 CA5938238 |
59 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379999862 rs1314038304 |
60 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5938237 rs143051189 |
60 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379999829 rs1395490636 |
61 | F>L | No |
ClinGen TOPMed |
|
|
rs750862039 CA5938234 |
62 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758817866 CA5938235 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590283283 CA379999648 |
71 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 71 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379999639 rs1258076169 |
72 | I>L | No |
ClinGen gnomAD |
|
|
rs1283898276 CA379999628 |
72 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379999585 rs1487290549 |
75 | E>K | No |
ClinGen gnomAD |
|
|
rs1476249663 CA379992956 |
77 | K>N | No |
ClinGen gnomAD |
|
|
CA219542311 rs868525397 |
82 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171706910 CA379992620 |
98 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976474876 CA219542115 |
101 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 101 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200287359 CA379992492 |
103 | C>G | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908175246 CA219542100 |
104 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM926465 rs369649984 CA219542099 |
111 | T>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
| TCGA novel | 111 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748517458 CA5938170 |
120 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA379991344 rs1214985238 |
121 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311277773 CA379991290 |
124 | Q>E | No |
ClinGen TOPMed |
|
|
rs1565006205 CA379991125 |
133 | I>T | No |
ClinGen Ensembl |
|
|
rs1225487009 CA379991030 |
139 | S>F | No |
ClinGen gnomAD |
|
|
CA379991036 rs1285231074 |
139 | S>T | No |
ClinGen gnomAD |
|
|
rs138450714 CA5938168 |
140 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA219540768 rs371469100 |
145 | D>E | No |
ClinGen ESP TOPMed |
|
|
CA5938155 rs770453717 |
148 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379990730 rs1372237103 |
159 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1169458534 CA379990671 |
163 | Q>H | No |
ClinGen gnomAD |
|
|
CA5938139 rs752507894 |
169 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA219540585 rs928271515 |
171 | V>I | No |
ClinGen Ensembl |
|
|
rs767308681 CA5938138 |
174 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5938135 rs765989081 |
181 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs762422604 CA5938134 |
183 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1308025687 CA379990141 |
191 | N>S | No |
ClinGen gnomAD |
|
|
CA379990108 rs765732601 |
192 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379989695 rs1391533502 |
197 | I>V | No |
ClinGen gnomAD |
|
| rs1300471016 | 205 | M>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1300471016 | 205 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275883494 CA379989295 |
219 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs935184836 CA219539032 |
220 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 222 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380003618 rs1487102470 |
222 | E>D | No |
ClinGen gnomAD |
|
|
rs1444389661 CA380003580 |
227 | M>I | No |
ClinGen TOPMed |
|
|
rs1240203239 CA380003540 |
233 | N>S | No |
ClinGen TOPMed |
|
|
rs761178670 CA5938106 |
236 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs775992303 CA380003512 |
238 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775992303 CA5938105 |
238 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA380003406 rs1425693457 |
252 | W>C | No |
ClinGen TOPMed |
|
|
CA5938103 rs746111488 |
256 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380003328 rs1474802559 |
262 | N>I | No |
ClinGen gnomAD |
|
|
CA219553729 rs1048998468 |
263 | P>A | No |
ClinGen TOPMed |
|
|
CA380003275 rs1418573446 |
270 | T>N | No |
ClinGen gnomAD |
|
|
rs756022140 CA219553726 |
272 | I>K | No |
ClinGen Ensembl |
|
|
CA380003216 rs1327439999 |
277 | M>T | No |
ClinGen TOPMed |
|
|
rs1397709098 CA380003181 |
282 | Q>E | No |
ClinGen TOPMed |
|
|
rs1565004330 CA380003154 |
286 | V>M | No |
ClinGen Ensembl |
|
|
CA380003147 rs1040714477 |
287 | L>V | No |
ClinGen gnomAD |
|
|
CA380003133 rs1228699551 |
289 | H>R | No |
ClinGen gnomAD |
|
|
rs1174898698 CA380003103 |
293 | I>T | No |
ClinGen gnomAD |
|
|
CA380003087 rs1309471424 |
295 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs970654610 CA219552943 |
297 | A>D | No |
ClinGen TOPMed |
|
|
CA5938085 rs774678370 |
299 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5938083 rs763082197 |
305 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA380002994 rs769799632 |
309 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5938081 rs769799632 |
309 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773366714 CA5938057 |
314 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA380002818 rs1442488198 |
327 | I>V | No |
ClinGen gnomAD |
|
|
rs1455824124 CA380002769 |
331 | A>S | No |
ClinGen TOPMed |
|
|
CA380002770 rs1455824124 |
331 | A>T | No |
ClinGen TOPMed |
|
|
CA219552710 rs1008165952 |
336 | L>S | No |
ClinGen TOPMed |
|
|
rs775545700 CA5938054 |
346 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA380002596 rs1363702632 |
346 | Y>H | No |
ClinGen TOPMed |
|
|
CA380002579 rs1160364098 |
347 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5938035 rs184046143 |
352 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761937370 CA5938034 |
352 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1213854449 CA380002475 |
353 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1284968775 CA380002406 |
358 | K>N | No |
ClinGen gnomAD |
|
|
rs776567292 CA5938033 |
361 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1022053463 CA219552528 |
361 | S>N | No |
ClinGen gnomAD |
|
|
CA219552525 rs181095002 |
362 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA380002358 rs1272523811 |
363 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs764167058 CA5938032 |
364 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA219552513 rs200350025 |
367 | L>V | No |
ClinGen gnomAD |
|
|
rs953610086 CA219552486 |
369 | I>F | No |
ClinGen Ensembl |
|
|
CA380002232 rs1458908357 |
375 | T>I | No |
ClinGen gnomAD |
|
|
CA380001803 rs1352188784 |
380 | Q>E | No |
ClinGen gnomAD |
|
|
CA380001762 rs1208092891 |
385 | A>S | No |
ClinGen gnomAD |
|
|
CA5938011 rs760765425 |
392 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774193413 CA5938010 |
397 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1452834277 CA380001668 |
399 | K>* | No |
ClinGen gnomAD |
|
|
CA380001629 rs1449278647 |
404 | D>G | No |
ClinGen TOPMed |
|
|
rs1169750503 CA380001622 |
405 | T>N | No |
ClinGen TOPMed |
|
|
rs1590264224 CA380001625 |
405 | T>P | No |
ClinGen Ensembl |
|
|
rs74989023 CA219551734 |
406 | R>K | No |
ClinGen Ensembl |
|
|
rs1590264218 CA380001613 |
407 | T>P | No |
ClinGen Ensembl |
|
|
rs773139989 CA5938006 |
408 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2114923 CA5938005 rs11553357 |
408 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA380001593 rs1203529211 |
410 | H>Y | No |
ClinGen gnomAD |
|
|
CA380001587 rs1312426530 |
411 | V>I | No |
ClinGen TOPMed |
|
|
CA5938004 rs747773840 |
414 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5938003 rs561886549 |
420 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5937989 rs762991154 |
434 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380001360 rs1184901333 |
441 | G>E | No |
ClinGen Ensembl |
|
|
CA5937988 rs750331923 |
442 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1314575981 CA380001328 |
446 | Y>H | No |
ClinGen gnomAD |
|
|
CA380001313 rs1165865259 |
448 | L>Q | No |
ClinGen gnomAD |
|
|
rs776188354 CA5937985 |
451 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416024472 COSM3670754 CA380001295 |
451 | I>V | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5937984 rs768333946 |
452 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA380001282 rs1413382563 |
453 | Y>H | No |
ClinGen gnomAD |
|
|
rs1384260400 CA380001261 |
456 | H>Y | No |
ClinGen gnomAD |
|
|
rs1467799122 CA380001246 |
458 | N>S | No |
ClinGen gnomAD |
|
| rs773633893 | 459 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA219549858 rs987209279 |
461 | N>T | No |
ClinGen TOPMed |
|
|
CA5937954 rs769999645 |
464 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5937953 rs748406781 |
467 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA219549847 rs571388005 |
469 | R>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 473 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380000825 rs1230808210 |
477 | P>R | No |
ClinGen gnomAD |
|
|
CA380000765 rs1284664862 |
484 | I>T | No |
ClinGen TOPMed |
|
|
rs1318561833 CA380000759 |
485 | W>* | No |
ClinGen TOPMed |
|
|
CA380000746 rs1294592384 |
487 | R>* | No |
ClinGen gnomAD |
|
|
rs765742783 CA5937939 |
487 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768987291 CA5937933 |
508 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865805106 CA219549154 |
518 | G>V | No |
ClinGen Ensembl |
|
|
CA219549144 rs868690281 |
525 | V>L | No |
ClinGen Ensembl |
|
|
rs768459848 CA219549129 |
530 | F>L | No |
ClinGen Ensembl |
|
|
CA5937925 rs755947614 |
533 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767220700 CA5937923 |
535 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5937922 rs754627840 |
537 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA219549114 rs758898746 |
540 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 543 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA598410383 rs1230187823 |
548 | D>Y | No |
ClinGen gnomAD |
|
|
rs1283400504 CA379999958 |
549 | V>G | No |
ClinGen gnomAD |
|
|
CA379999947 rs1448222905 |
550 | S>F | No |
ClinGen gnomAD |
|
|
CA379999942 rs1315598913 |
551 | R>C | No |
ClinGen gnomAD |
|
|
rs769717692 CA5937905 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs910314397 CA219547632 |
557 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748010913 CA5937904 COSM3719377 |
559 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA379999867 rs1266419939 |
559 | P>S | No |
ClinGen gnomAD |
|
|
rs754720144 CA5937902 |
562 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 566 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745985559 CA5937901 |
567 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 569 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379999758 rs756792158 |
571 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA219547599 rs756792158 |
571 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5937898 rs749891940 |
577 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA379999689 rs1288874012 |
577 | R>K | No |
ClinGen gnomAD |
|
|
rs1288874012 CA379999688 |
577 | R>T | No |
ClinGen gnomAD |
|
|
rs1590259768 CA379999674 |
578 | K>N | No |
ClinGen Ensembl |
|
|
CA379999670 rs1590259766 |
579 | P>T | No |
ClinGen Ensembl |
|
|
rs765914953 CA5937897 |
580 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5937896 rs762417208 |
581 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA379999627 rs1165256478 |
582 | P>L | No |
ClinGen TOPMed |
|
|
rs754345078 CA5937895 |
583 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5937894 rs764581305 |
584 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760913649 CA5937893 |
587 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 588 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5937892 rs775825908 |
591 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776599477 CA5937864 |
602 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1208057545 CA379999058 |
603 | H>Y | No |
ClinGen gnomAD |
|
|
rs563376018 CA5937862 |
604 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220252982 CA379999012 |
607 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 609 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771844785 COSM428925 CA5937860 |
614 | P>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1409658306 CA379998941 |
615 | A>T | No |
ClinGen gnomAD |
|
|
CA379998922 rs1310047634 |
617 | V>I | No |
ClinGen gnomAD |
|
|
CA5937858 rs778674552 |
622 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1007095295 CA219547003 |
628 | C>G | No |
ClinGen Ensembl |
|
|
CA5937855 rs748790656 |
630 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA379998640 rs1484586738 |
637 | D>E | No |
ClinGen gnomAD |
|
|
CA5937831 rs755599842 |
640 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1465747134 CA379998575 |
642 | I>V | No |
ClinGen gnomAD |
|
|
rs749330202 COSM167907 CA5937830 |
644 | R>Q | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA379998485 rs1321321104 |
648 | I>M | No |
ClinGen gnomAD |
|
|
rs1223976439 CA379998367 |
652 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1397391220 CA379998309 |
656 | V>A | No |
ClinGen TOPMed |
|
|
CA5937809 rs747673379 |
657 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs781609088 CA5937808 |
660 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769147168 CA5937807 |
661 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA219546664 rs774690642 |
661 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774690642 CA379998254 |
661 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379998116 rs1369622217 |
672 | G>S | No |
ClinGen gnomAD |
|
|
rs750644457 CA5937803 |
673 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5937801 rs757337076 |
674 | V>M | Variant assessed as Somatic; 9.336e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753943459 CA5937800 |
679 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA379998002 rs1433126781 |
681 | T>N | No |
ClinGen gnomAD |
|
|
rs1268410444 CA379997990 |
682 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA219546617 rs947718358 |
683 | A>S | No |
ClinGen gnomAD |
|
|
rs751491565 CA5937797 |
684 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161226423 CA379997930 |
687 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5937796 rs551015961 |
688 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254352690 CA379997868 |
693 | E>A | No |
ClinGen gnomAD |
|
|
CA379997819 rs1331680486 |
696 | E>D | No |
ClinGen gnomAD |
|
|
CA379997806 rs1303114033 |
697 | K>M | No |
ClinGen gnomAD |
|
|
rs1184610844 CA379997781 |
699 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 699 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769474687 CA5937793 |
700 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776213981 CA5937791 |
702 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5937790 rs768101813 |
702 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747539023 CA5937789 |
703 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 704 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772471859 CA5937787 |
705 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5937788 rs377162271 |
705 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 711 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199997337 CA379997653 |
717 | R>Q | No |
ClinGen gnomAD |
No associated diseases with Q12996
11 regional properties for Q12996
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 45 - 77 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 79 - 110 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 117 - 152 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 163 - 196 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 229 - 261 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 271 - 303 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 319 - 352 | IPR003107-7 |
| repeat | HAT (Half-A-TPR) repeat | 354 - 387 | IPR003107-8 |
| repeat | HAT (Half-A-TPR) repeat | 424 - 456 | IPR003107-9 |
| repeat | HAT (Half-A-TPR) repeat | 458 - 494 | IPR003107-10 |
| domain | Suppressor of forked | 375 - 649 | IPR008847 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA cleavage | Any process in which a pre-mRNA or mRNA molecule is cleaved at specific sites or in a regulated manner. |
| mRNA polyadenylation | The enzymatic addition of a sequence of 40-200 adenylyl residues at the 3' end of a eukaryotic mRNA primary transcript. |
| RNA 3'-end processing | Any process involved in forming the mature 3' end of an RNA molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGDGATEQA | AEYVPEKVKK | AEKKLEENPY | DLDAWSILIR | EAQNQPIDKA | RKTYERLVAQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FPSSGRFWKL | YIEAEIKAKN | YDKVEKLFQR | CLMKVLHIDL | WKCYLSYVRE | TKGKLPSYKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KMAQAYDFAL | DKIGMEIMSY | QIWVDYINFL | KGVEAVGSYA | ENQRITAVRR | VYQRGCVNPM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| INIEQLWRDY | NKYEEGINIH | LAKKMIEDRS | RDYMNARRVA | KEYETVMKGL | DRNAPSVPPQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NTPQEAQQVD | MWKKYIQWEK | SNPLRTEDQT | LITKRVMFAY | EQCLLVLGHH | PDIWYEAAQY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEQSSKLLAE | KGDMNNAKLF | SDEAANIYER | AISTLLKKNM | LLYFAYADYE | ESRMKYEKVH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SIYNRLLAIE | DIDPTLVYIQ | YMKFARRAEG | IKSGRMIFKK | AREDTRTRHH | VYVTAALMEY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YCSKDKSVAF | KIFELGLKKY | GDIPEYVLAY | IDYLSHLNED | NNTRVLFERV | LTSGSLPPEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SGEIWARFLA | FESNIGDLAS | ILKVEKRRFT | AFKEEYEGKE | TALLVDRYKF | MDLYPCSASE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LKALGYKDVS | RAKLAAIIPD | PVVAPSIVPV | LKDEVDRKPE | YPKPDTQQMI | PFQPRHLAPP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GLHPVPGGVF | PVPPAAVVLM | KLLPPPICFQ | GPFVQVDELM | EIFRRCKIPN | TVEEAVRIIT |
| 670 | 680 | 690 | 700 | 710 | |
| GGAPELAVEG | NGPVESNAVL | TKAVKRPNED | SDEDEEKGAV | VPPVHDIYRA | RQQKRIR |