O95453
PR
Gene name |
PARN (DAN) |
Protein name |
Poly(A)-specific ribonuclease PARN |
Names |
Deadenylating nuclease, Deadenylation nuclease, Polyadenylate-specific ribonuclease |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5073 |
EC number |
3.1.13.4: Exoribonucleases producing 5'-phosphomonoesters |
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 O95453
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2A1R | X-ray | 260 A | A/B | 1-430 | PDB |
| 2A1S | X-ray | 260 A | A/B/C/D | 1-430 | PDB |
| 3CTR | X-ray | 210 A | A | 445-540 | PDB |
| AF-O95453-F1 | Predicted | AlphaFoldDB |
530 variants for O95453
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000689225 rs1567474981 CA394819003 |
3 | I>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1371498176 RCV001034550 RCV003151266 RCV001211515 RCV002509594 CA394818950 RCV001759929 |
7 | N>H | Familial Interstitial Pneumonia Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555512179 RCV000500095 |
8 | F>missing | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7912561 rs777848795 RCV000820833 |
12 | L>F | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV001294319 rs1972904968 |
19 | I>M | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7912554 rs367979521 RCV001321466 |
19 | I>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ESP ExAC gnomAD ClinGen ClinVar dbSNP |
|
rs1972801342 RCV001236452 |
35 | S>T | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034551 RCV001862464 rs375964590 CA278541971 CA7912520 |
56 | K>N | Familial Interstitial Pneumonia Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs201235100 RCV001269407 CA278541702 |
82 | K>R | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001816642 rs201765587 RCV000653141 RCV002223900 RCV000850488 CA7912470 |
91 | Y>C | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000698364 rs764315291 CA7912472 |
91 | Y>N | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV001242364 RCV003128753 rs759622779 CA7912468 |
100 | S>Y | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229573 CA394815705 rs1338274189 |
107 | V>I | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
gnomAD ClinGen ClinVar dbSNP |
|
RCV001204414 rs1972010104 |
117 | A>G | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000999525 CA394813177 rs1596886075 RCV002550736 |
120 | G>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
rs778795386 RCV001059855 CA7912436 RCV001760019 |
128 | R>Q | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA7912420 RCV000809842 rs374762200 RCV003150821 |
136 | Q>L | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV003169749 CA7912418 rs778885248 RCV001352026 |
140 | R>G | Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1195236338 RCV001065752 |
145 | Q>P | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001879757 RCV001249632 rs777558836 CA7912414 RCV002568697 |
150 | R>C | Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs755153974 RCV000811000 CA394811053 |
150 | R>H | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV001816705 rs200103366 RCV000689559 CA7912411 RCV001335956 |
156 | A>S | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM967244 RCV001326451 COSM967245 rs201180499 CA7912399 |
172 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium Dyskeratosis congenita, autosomal recessive 6 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001311427 RCV000170590 rs876661305 RCV002509273 CA10575708 |
177 | Q>* | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001306620 CA7912397 rs772994032 |
177 | Q>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs878853260 RCV000701508 RCV002509274 RCV000170591 |
189 | E>missing | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596848231 RCV001034548 |
189 | E>* | Familial Interstitial Pneumonia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765326441 CA278533227 RCV001050103 |
191 | L>F | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001308845 RCV001820002 CA278533220 rs374622245 |
194 | S>N | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001206458 rs373203553 CA7912374 |
207 | G>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001063256 CA394808563 rs1363931577 |
219 | W>* | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001229149 rs1971316192 |
219 | W>G | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002509628 rs770353163 RCV001205417 CA7912349 |
222 | P>L | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001064355 rs770353163 |
222 | P>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989539 RCV001214004 rs757910862 CA7912343 |
231 | E>G | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7912316 RCV001819891 RCV001252646 rs760506977 RCV001201968 |
237 | R>* | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7912314 RCV001230505 rs376992177 |
237 | R>Q | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1971048225 RCV001229492 |
238 | Y>* | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1172901128 RCV001204144 |
243 | K>N | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596812454 CA915946273 RCV000850489 |
274 | I>* | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
rs1970312112 RCV001317462 |
285 | I>T | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792552 CA7912254 rs376031010 |
285 | I>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000170486 rs786201001 RCV000162315 |
288 | N>missing | Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7912249 RCV000911453 rs758441481 |
293 | V>I | Variant assessed as Somatic; 0.0 impact. Dyskeratosis congenita, autosomal recessive 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1970309647 RCV001034546 |
296 | T>missing | Familial Interstitial Pneumonia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA278518561 rs942688617 RCV001237609 |
301 | Y>C | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
COSM1375997 rs201362263 COSM1375998 RCV001047966 CA7912247 |
306 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Dyskeratosis congenita, autosomal recessive 6 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar NCI-TCGA dbSNP |
|
rs755489002 CA278512454 RCV001217423 |
307 | D>N | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394803582 rs1336426171 RCV000797615 |
308 | L>F | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
gnomAD ClinGen ClinVar dbSNP |
|
rs371788207 CA7912228 RCV001308708 |
315 | T>A | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989538 rs1461036243 |
318 | V>missing | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215845 rs374213957 RCV002561875 CA7912185 |
344 | A>V | Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001299647 rs201053607 CA7912180 RCV002541898 |
349 | R>Q | Dyskeratosis congenita, autosomal recessive 6 Inborn genetic diseases [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000203540 RCV002517366 rs754368658 CA280938 |
349 | R>W | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA278510978 rs757655633 RCV001260999 RCV001880000 |
356 | N>S | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002466657 RCV001302713 CA7912177 rs767096267 |
357 | P>T | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA7912147 RCV001233865 RCV003166437 rs772109946 |
364 | E>K | Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1452851028 RCV001296527 |
365 | G>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653145 RCV000502702 CA7912144 rs138984302 |
368 | S>C | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1969578006 RCV001036703 |
375 | Q>missing | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7912142 RCV001208867 rs761566642 |
378 | E>K | Variant assessed as Somatic; 0.0 impact. Dyskeratosis congenita, autosomal recessive 6 [NCI-TCGA, ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
VAR_073782 RCV000170484 RCV000162313 rs786200999 CA250319 |
383 | A>V | Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6 DKCB6 [ClinVar, UniProt] | Yes |
Ensembl ClinGen ClinVar UniProt dbSNP |
|
CA7912133 rs765070513 RCV001050134 |
391 | I>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA394821893 rs1596738260 RCV000820112 |
407 | H>D | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034549 rs942538351 RCV001862463 |
419 | F>missing | Familial Interstitial Pneumonia Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs942538351 RCV000503489 |
420 | N>* | Dyskeratosis congenita, autosomal recessive 6 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
rs777090017 CA7912102 RCV000170592 VAR_073783 |
421 | K>R | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PFBMFT4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1967640251 RCV001345015 |
428 | M>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001335955 rs1967639910 |
429 | D>N | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201782700 RCV001219209 CA7912081 |
433 | L>I | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814779 rs201782700 RCV001759581 CA7912080 RCV001175300 |
433 | L>V | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1967506241 RCV001343217 |
440 | L>S | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484657 rs765981944 RCV002509408 RCV001308486 CA7912056 |
444 | R>C | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394811994 rs984383174 RCV000807380 |
451 | T>A | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1967502478 RCV001217593 |
453 | P>H | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394811768 rs1225884986 RCV001039616 |
461 | L>V | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
gnomAD ClinGen ClinVar dbSNP |
|
rs375177493 CA7912015 RCV001058707 |
486 | S>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034581 RCV000793832 rs200471459 RCV001796224 CA7911998 |
498 | S>N | Familial Interstitial Pneumonia Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA395183696 rs1185388930 RCV001342940 |
499 | K>N | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000820234 rs199651788 CA7911997 |
501 | A>S | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs760452316 RCV001317236 RCV003151301 CA7911994 COSM471325 COSM471324 |
505 | R>Q | kidney Variant assessed as Somatic; 4.656e-05 impact. endometrium Dyskeratosis congenita, autosomal recessive 6 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar NCI-TCGA dbSNP |
|
CA7911995 COSM283707 RCV000435917 rs375185166 COSM283706 RCV001851029 |
505 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Dyskeratosis congenita, autosomal recessive 6 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000693220 RCV000501731 rs377199187 CA7911983 RCV002527275 |
538 | R>P | Dyskeratosis congenita, autosomal recessive 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001317794 CA7911984 rs183781022 |
538 | R>W | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000824260 CA395183338 rs1368350204 |
550 | N>K | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000808597 rs372489171 CA7911972 |
554 | R>H | Variant assessed as Somatic; 0.0 impact. Dyskeratosis congenita, autosomal recessive 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200433771 RCV000499944 RCV001213533 CA7911943 |
564 | V>A | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000504354 rs35722504 CA7911944 RCV000653143 |
564 | V>I | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA395184573 rs1567284498 RCV000706199 |
566 | K>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001613322 RCV000528497 CA7911937 rs75007073 RCV000503262 |
581 | G>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002509642 rs1194089098 RCV001879932 RCV001255170 |
585 | E>missing | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750247455 CA395184428 RCV001052358 |
588 | D>Y | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
COSM460604 RCV003105981 RCV000596863 rs975097908 COSM460605 CA278950346 |
590 | E>Q | cervix Dyskeratosis congenita, autosomal recessive 6 [Cosmic, ClinVar] | Yes |
TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP |
|
rs200434143 CA7911929 RCV001816736 RCV000705728 |
595 | D>E | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000810783 CA395184370 rs1596433239 |
597 | C>R | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA278950341 RCV000806078 rs913617123 |
614 | M>I | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
TOPMed ClinGen ClinVar dbSNP |
|
rs1961224273 RCV001309311 |
614 | M>T | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001756104 CA7911921 RCV000653142 rs368440052 |
615 | K>E | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001232787 rs1961223739 |
616 | K>missing | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM967233 RCV000914382 RCV001818850 rs201963032 COSM967232 CA7911899 RCV003169295 |
625 | S>L | endometrium Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 6 [Cosmic, ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP |
|
rs200677089 RCV001058173 CA7911891 |
631 | T>A | Dyskeratosis congenita, autosomal recessive 6 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA394819007 CA394819009 rs1381404560 |
2 | E>D | No |
ClinGen gnomAD |
|
|
rs960977128 CA278542570 |
3 | I>K | No |
ClinGen TOPMed |
|
|
CA394818994 rs1359611593 |
3 | I>M | No |
gnomAD ClinGen |
|
|
rs1415390022 CA394818960 |
6 | S>C | No |
ClinGen gnomAD |
|
|
CA394818962 rs1415390022 |
6 | S>G | No |
gnomAD ClinGen |
|
|
CA394818955 rs1376144886 |
6 | S>R | No |
gnomAD ClinGen |
|
|
CA394818622 rs1328200201 |
9 | K>M | No |
ClinGen gnomAD |
|
|
CA7912564 rs778991876 |
11 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs754141670 CA7912562 |
11 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754141670 CA7912563 |
11 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA394818541 rs1180535724 |
13 | H>R | No |
gnomAD ClinGen |
|
|
rs756570032 CA7912560 |
13 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7912559 rs753010781 |
14 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193879624 CA394818482 |
15 | V>A | No |
ClinGen gnomAD |
|
|
rs767866184 CA7912558 |
15 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA278542325 rs975983337 |
16 | Y>S | No |
Ensembl ClinGen |
|
|
RCV001169992 rs1972905468 |
17 | Q>* | No |
ClinVar dbSNP |
|
|
rs766028291 CA7912555 |
17 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772983825 CA7912553 |
19 | I>T | No |
ClinGen ExAC |
|
|
rs764800350 CA7912552 |
21 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA394818311 rs1334898052 |
21 | E>K | No |
TOPMed ClinGen |
|
|
CA7912549 rs768398246 |
26 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA278542315 rs966289776 |
33 | G>* | No |
ClinGen Ensembl |
|
|
CA394817075 rs1398756916 |
39 | S>L | No |
ClinGen gnomAD |
|
|
rs1434638669 CA394817081 |
39 | S>P | No |
ClinGen gnomAD |
|
|
CA278541982 rs993681231 |
40 | V>A | No |
TOPMed ClinGen |
|
|
CA7912528 rs745764135 |
40 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1433689115 CA394817058 |
41 | S>C | No |
ClinGen gnomAD |
|
|
CA7912527 rs773189398 |
44 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1319466970 CA394817005 |
44 | T>I | No |
ClinGen TOPMed |
|
|
rs748359090 CA7912525 |
45 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs748359090 CA7912526 |
45 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7912523 rs755459951 |
46 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs868351835 CA278541974 |
46 | G>V | No |
ClinGen Ensembl |
|
|
CA394816976 rs1486635297 |
47 | F>I | No |
ClinGen gnomAD |
|
|
rs573504567 CA7912521 |
48 | D>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs573504567 CA7912522 |
48 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211629331 CA394816896 |
52 | E>A | No |
ClinGen gnomAD |
|
|
rs1485405965 CA394816887 |
52 | E>D | No |
gnomAD ClinGen |
|
|
rs1276688409 CA394816870 |
53 | R>T | No |
gnomAD ClinGen |
|
|
rs1216558709 CA394816829 |
55 | Q>E | No |
ClinGen gnomAD |
|
|
rs1340476762 CA394816811 |
55 | Q>H | No |
ClinGen gnomAD |
|
|
rs750899311 CA7912519 |
57 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000484532 rs1064796768 CA16620071 |
58 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7912518 rs778324179 RCV000481102 |
59 | K>R | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs778324179 CA394816756 |
59 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756788280 CA7912500 |
62 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394816544 rs1379319792 |
63 | D>E | No |
ClinGen gnomAD |
|
|
CA394816551 rs1307444467 |
63 | D>G | No |
ClinGen TOPMed |
|
|
CA394816516 rs1403598118 |
64 | F>L | No |
ClinGen gnomAD |
|
|
rs1470565519 CA394816465 |
67 | F>L | No |
gnomAD ClinGen |
|
|
rs1177006410 CA394816373 |
70 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567470960 CA394816337 |
73 | T>A | No |
Ensembl ClinGen |
|
|
CA278541716 rs1033144694 |
75 | K>* | No |
TOPMed ClinGen |
|
|
rs752306700 CA7912496 |
76 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA394816249 rs767256721 |
78 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA7912495 rs767256721 |
78 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1323671329 CA394816226 |
80 | D>G | No |
TOPMed ClinGen |
|
|
CA394816231 rs1467495993 |
80 | D>N | No |
gnomAD ClinGen |
|
| TCGA novel | 82 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7912475 rs766039146 |
83 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1430004851 CA394816135 |
84 | I>V | No |
gnomAD ClinGen |
|
|
CA7912474 rs139959455 |
85 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7912473 rs754319643 |
87 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1217869834 CA394816090 |
87 | S>L | No |
ClinGen TOPMed |
|
|
CA394816073 rs1395879971 |
89 | N>D | No |
gnomAD ClinGen |
|
| TCGA novel | 90 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7912471 rs201765587 |
91 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422171401 CA394816028 |
92 | V>I | No |
ClinGen gnomAD |
|
|
CA394815935 rs1187614123 |
95 | K>N | No |
gnomAD ClinGen |
|
|
CA394815911 rs1488270875 |
96 | P>L | No |
ClinGen gnomAD |
|
|
rs267604417 CA278541642 |
96 | P>S | No |
Ensembl ClinGen |
|
|
rs930748159 CA278541641 |
98 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394815840 rs1212341179 |
99 | R>T | No |
gnomAD ClinGen |
|
|
rs759622779 CA7912469 |
100 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA394815817 rs1207602055 |
101 | S>P | No |
ClinGen gnomAD |
|
|
CA394815789 rs1234546861 |
102 | P>A | No |
Ensembl ClinGen |
|
|
rs1225169468 CA394815769 |
103 | D>G | No |
ClinGen TOPMed |
|
|
CA394815745 rs1296075834 |
104 | V>A | No |
ClinGen gnomAD |
|
|
rs1213898858 CA394815737 |
105 | K>R | No |
ClinGen gnomAD |
|
|
CA394813268 rs1179338194 |
111 | S>C | No |
ClinGen Ensembl |
|
|
rs376765477 CA7912442 |
113 | I>T | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1215008274 COSM556674 CA394813250 COSM556673 |
113 | I>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs746720715 CA7912440 |
116 | L>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 116 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394813195 rs1254728798 |
118 | S>N | No |
gnomAD ClinGen |
|
|
rs1214207697 CA394813187 |
119 | Q>E | No |
gnomAD ClinGen |
|
|
CA7912439 rs779555557 |
122 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA7912438 rs772057488 |
124 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745660294 CA7912437 |
125 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1422124695 CA394813110 |
126 | V>L | No |
ClinGen TOPMed |
|
|
CA394813087 rs1318821563 |
128 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7912435 rs757285957 |
129 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7912434 rs753682634 |
130 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1052948112 CA278534662 |
139 | E>D | No |
ClinGen TOPMed |
|
|
CA394811132 rs1195236338 |
145 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394811096 rs1429091997 |
147 | D>V | No |
ClinGen gnomAD |
|
|
CA7912415 rs777558836 |
150 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7912413 rs755153974 |
150 | R>P | No |
ExAC gnomAD ClinGen |
|
|
CA278534651 rs760332201 |
153 | A>T | No |
ClinGen TOPMed |
|
|
rs371072064 CA7912412 |
153 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273481728 CA394810990 |
154 | N>S | No |
ClinGen gnomAD |
|
|
CA278534633 rs1033828257 |
154 | N>Y | No |
ClinGen Ensembl |
|
|
rs1341620972 CA394810960 |
156 | A>V | No |
ClinGen gnomAD |
|
|
CA394810951 rs750612864 |
157 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7912409 rs750612864 |
157 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201990148 CA7912407 |
161 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7912406 rs754431809 |
163 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA394810821 rs761183697 |
164 | P>H | No |
ExAC gnomAD ClinGen |
|
|
CA7912404 rs761183697 |
164 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA7912405 rs764510636 |
164 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7912403 rs775164255 |
165 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs370388189 CA7912402 |
166 | T>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs370388189 CA278534598 |
166 | T>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA394810745 rs1476873980 |
167 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1259777899 CA394810650 |
170 | P>L | No |
ClinGen gnomAD |
|
|
CA394810674 rs1317609283 |
170 | P>S | No |
gnomAD ClinGen |
|
|
rs759305419 CA7912401 |
171 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs774129281 CA7912400 |
172 | T>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1356812555 CA394810078 |
178 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs748035733 CA7912395 |
179 | K>* | No |
ExAC gnomAD ClinGen |
|
|
rs780146654 CA7912394 |
179 | K>M | No |
ExAC gnomAD ClinGen |
|
|
rs1330479686 CA394810034 |
181 | I>T | No |
gnomAD ClinGen |
|
|
CA7912378 rs772909619 |
189 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs1596848231 CA394809640 |
189 | E>K | No |
ClinGen Ensembl |
|
|
RCV000658219 CA7912377 rs769599205 |
190 | D>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA394809588 rs769599205 |
190 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329106234 CA394809592 |
190 | D>Y | No |
ClinGen gnomAD |
|
|
rs768538052 CA278533191 |
197 | N>S | No |
Ensembl ClinGen |
|
|
COSM3420773 COSM3420774 CA394809414 rs1411794636 |
198 | K>N | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA394809327 rs1440594477 |
202 | L>I | No |
gnomAD ClinGen |
|
|
CA278533145 rs941979643 |
205 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA278533153 rs1039072843 |
205 | C>G | No |
TOPMed gnomAD ClinGen |
|
| rs776536192 | 206 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548673359 CA278533141 |
206 | T>A | No |
gnomAD ClinGen |
|
|
rs1478009089 CA394808687 |
208 | F>L | No |
TOPMed ClinGen |
|
|
rs190870967 CA278532479 |
209 | Q>E | No |
1000Genomes ClinGen |
|
|
rs1283372933 CA394808678 |
209 | Q>R | No |
gnomAD ClinGen |
|
|
rs1021425229 CA278532475 |
214 | Y>N | No |
ClinGen Ensembl |
|
|
rs1312554705 CA394808604 |
215 | Q>H | No |
gnomAD ClinGen |
|
|
rs1431949582 CA394808599 |
216 | T>S | No |
TOPMed ClinGen |
|
|
CA394808582 rs1217388199 |
218 | S>T | No |
ClinGen gnomAD |
|
|
CA7912350 rs778046671 |
221 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1023536897 CA278531261 |
221 | Y>N | No |
gnomAD ClinGen |
|
|
CA7912346 rs755566968 |
223 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs960670226 CA278531242 |
225 | I>M | No |
TOPMed gnomAD ClinGen |
|
|
rs752072963 CA7912345 |
225 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1315933434 CA394808322 |
226 | H>Y | No |
gnomAD ClinGen |
|
|
CA7912344 rs779477840 |
230 | L>S | No |
ExAC gnomAD ClinGen |
|
|
CA394808277 rs1312257752 |
233 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7912317 rs763928075 |
236 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs1475288608 CA394807957 |
236 | E>D | No |
TOPMed ClinGen |
|
|
rs376992177 CA7912315 |
237 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330990528 CA394807925 |
238 | Y>H | No |
ClinGen gnomAD |
|
|
rs369822304 CA278529334 |
239 | I>V | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA394807854 rs759287643 |
241 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA394807865 rs1340656429 |
241 | I>V | No |
gnomAD ClinGen |
|
|
CA7912312 rs570072983 |
242 | S>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA394807840 rs570072983 |
242 | S>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1375014078 CA394807795 |
244 | V>I | No |
ClinGen TOPMed |
|
|
rs1195772798 CA394807752 |
245 | D>G | No |
ClinGen gnomAD |
|
|
rs1375796074 CA394807765 |
245 | D>N | No |
ClinGen gnomAD |
|
|
CA7912309 rs377683314 |
246 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769206017 CA7912308 |
247 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA7912307 rs774170618 |
249 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7912306 rs775658912 |
249 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7912305 rs772655570 |
250 | K>E | No |
ExAC ClinGen |
|
|
rs1258568177 CA394807634 |
250 | K>R | No |
ClinGen gnomAD |
|
|
CA278529235 rs866106852 |
253 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 259 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278828973 CA394807428 |
260 | E>K | No |
ClinGen TOPMed |
|
|
rs1344763500 CA394807401 |
261 | Q>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1344763500 CA394807400 |
261 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761977483 CA7912284 |
263 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394806507 rs761977483 |
263 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7912283 rs776782216 |
263 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767707550 CA278525344 |
264 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1043913377 CA278525338 |
265 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 267 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278525331 rs946899509 |
268 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394806414 rs1427782065 |
272 | R>G | No |
ClinGen gnomAD |
|
|
rs1220763299 CA394806383 |
274 | I>M | No |
TOPMed ClinGen |
|
|
CA7912282 rs764385694 |
275 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185509128 CA7912280 |
276 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA394806342 rs1483105090 |
278 | A>G | No |
TOPMed ClinGen |
|
|
rs772291762 CA7912279 |
278 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs772291762 CA394806346 |
278 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394806337 rs1222309705 |
279 | N>D | No |
ClinGen TOPMed |
|
|
rs774827522 CA7912277 |
280 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774827522 CA7912278 |
280 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016593820 CA278518631 |
281 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
CA7912255 rs769158348 |
284 | V>I | No |
ExAC gnomAD ClinGen |
|
|
COSM1189187 COSM1189186 CA394804701 rs1176408023 |
289 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7912252 rs369267769 |
289 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780700912 CA7912253 |
289 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA7912251 rs746810266 |
290 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA278518570 rs975387216 |
296 | T>A | No |
Ensembl ClinGen |
|
|
CA394804614 rs1230931001 |
297 | V>I | No |
ClinGen TOPMed |
|
|
CA394804561 rs942688617 |
301 | Y>F | No |
TOPMed gnomAD ClinGen |
|
|
CA394804535 rs1211898404 |
303 | P>R | No |
gnomAD ClinGen |
|
|
rs912615648 CA278518559 |
304 | L>V | No |
Ensembl ClinGen |
|
|
rs1567416938 CA394803565 |
309 | S>N | No |
Ensembl ClinGen |
|
|
CA278512435 rs868690305 |
310 | E>* | No |
Ensembl ClinGen |
|
|
CA7912229 rs757153629 |
314 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA278512409 rs866514752 |
321 | R>I | No |
ClinGen Ensembl |
|
|
CA394803266 rs1364498433 |
324 | D>N | No |
ClinGen gnomAD |
|
|
CA278511301 rs934553262 |
325 | T>A | No |
gnomAD ClinGen |
|
|
rs1421280930 CA394803245 |
325 | T>S | No |
gnomAD ClinGen |
|
|
CA7912214 rs775266698 |
330 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7912213 rs772057743 |
331 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394803181 rs1192924206 |
331 | T>R | No |
gnomAD ClinGen |
|
| TCGA novel | 332 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394803153 rs1490537533 |
334 | F>L | No |
gnomAD ClinGen |
|
|
rs182753748 CA7912188 |
336 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs182753748 CA394803070 |
336 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs182753748 CA394803068 |
336 | D>V | No |
1000Genomes ExAC TOPMed ClinGen |
|
|
CA7912187 rs768793595 |
340 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174320801 CA394802993 |
342 | S>C | No |
ClinGen gnomAD |
|
|
rs747102827 CA7912186 |
343 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA394802951 rs374213957 |
344 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746068090 CA7912183 |
345 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs779193378 CA7912182 |
346 | L>M | No |
ExAC gnomAD ClinGen |
|
|
rs972193208 CA278510990 |
348 | K>E | No |
ClinGen Ensembl |
|
|
CA7912179 rs528529286 |
350 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs878878311 CA278510984 |
355 | F>S | No |
Ensembl ClinGen |
|
|
rs752280210 CA394802746 |
356 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs752280210 CA7912178 |
356 | N>H | No |
ExAC gnomAD ClinGen |
|
|
rs759152378 CA7912176 |
357 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7912175 rs751206162 |
358 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs192893173 CA7912174 |
359 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7912146 rs759663590 |
364 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs1452851028 CA394802030 |
365 | G>A | No |
ClinGen gnomAD |
|
|
CA394802034 rs1218448930 |
365 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394802004 rs1292037008 |
367 | P>Q | No |
ClinGen gnomAD |
|
|
rs138984302 CA394801996 |
368 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264454543 CA394801954 |
370 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394801936 rs1287829235 |
372 | A>T | No |
ClinGen gnomAD |
|
|
rs1224156619 CA394801912 |
373 | S>C | No |
gnomAD ClinGen |
|
|
rs1286488410 CA394801867 |
374 | E>D | No |
TOPMed ClinGen |
|
|
CA394801864 rs1380270401 |
375 | Q>K | No |
TOPMed ClinGen |
|
|
CA394801758 rs1440095561 |
378 | E>D | No |
ClinGen gnomAD |
|
|
CA394801750 rs1347536749 |
379 | A>S | No |
gnomAD ClinGen |
|
|
CA278509579 rs1022858315 |
379 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 381 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278509549 rs966793716 |
382 | D>N | No |
ClinGen Ensembl |
|
|
rs199551987 CA7912140 |
384 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7912138 rs755375812 |
386 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA7912137 rs746545232 |
386 | T>K | No |
ExAC gnomAD ClinGen |
|
|
rs753378365 CA7912135 |
387 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA394801567 rs1567411906 |
390 | F>L | No |
ClinGen Ensembl |
|
|
CA7912132 rs757040646 |
391 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216169026 CA394801542 |
393 | M>L | No |
ClinGen gnomAD |
|
|
rs1282057482 CA394801403 |
395 | N>S | No |
gnomAD ClinGen |
|
|
CA278509451 rs1031462589 |
397 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs998659076 CA278509445 |
398 | G>C | No |
ClinGen TOPMed |
|
|
CA394822152 rs1447922914 |
398 | G>V | No |
TOPMed ClinGen |
|
|
rs1181755378 CA394822110 |
400 | F>L | No |
ClinGen gnomAD |
|
|
rs1242443061 CA394822119 |
400 | F>S | No |
ClinGen gnomAD |
|
|
CA394822006 rs1187340073 |
403 | P>L | No |
ClinGen TOPMed |
|
|
CA394821993 rs1482301311 |
404 | P>S | No |
gnomAD ClinGen |
|
|
rs548716060 CA7912106 |
405 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1205344643 CA394821951 |
406 | I>L | No |
ClinGen gnomAD |
|
|
CA394821864 rs1307066336 |
408 | V>G | No |
gnomAD ClinGen |
|
|
CA394821824 rs1383582580 |
410 | A>T | No |
TOPMed ClinGen |
|
|
rs1384078798 CA394821798 |
411 | R>K | No |
ClinGen gnomAD |
|
|
rs1446624102 CA394821765 |
412 | S>L | No |
ClinGen TOPMed |
|
|
rs1164475774 CA394821742 |
413 | K>R | No |
ClinGen TOPMed |
|
|
rs1451726091 CA394821646 |
417 | P>R | No |
TOPMed ClinGen |
|
|
rs765573306 CA7912104 |
417 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs942538351 | 419 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762081913 CA7912103 |
420 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA394813017 rs1489255813 |
425 | M>V | No |
gnomAD ClinGen |
|
|
CA394812997 rs1267290979 |
426 | R>K | No |
TOPMed ClinGen |
|
|
rs762139840 CA7912082 |
427 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1418545387 CA394812962 COSM86203 |
428 | M>I | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA394812907 rs1409909911 |
432 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs968800338 CA394812788 |
438 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
rs968800338 CA278516799 |
438 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs767838179 CA7912059 |
441 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
rs760085398 CA7912058 |
442 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA394812101 rs1171017864 |
444 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7912057 rs765981944 |
444 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA394812071 rs1373892520 |
446 | H>N | No |
ClinGen gnomAD |
|
|
CA7912055 rs762377690 |
447 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1448106900 CA394812038 |
448 | L>F | No |
ClinGen gnomAD |
|
|
CA394812006 rs1283070363 |
450 | V>L | No |
ClinGen TOPMed |
|
|
CA278515759 rs984383174 |
451 | T>S | No |
gnomAD ClinGen |
|
|
CA394811973 rs1460466387 |
452 | F>S | No |
gnomAD ClinGen |
|
|
CA394811933 rs1275831280 |
454 | K>E | No |
gnomAD ClinGen |
|
|
rs769358428 CA7912053 |
454 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7912050 rs747006604 |
460 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs747006604 CA7912049 |
460 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394811794 rs747006604 |
460 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1451889903 CA394811695 |
464 | L>F | No |
ClinGen gnomAD |
|
|
CA394811652 rs1292994814 |
466 | S>C | No |
ClinGen TOPMed |
|
|
rs1214739520 CA394811637 |
466 | S>R | No |
ClinGen TOPMed |
|
|
CA394811643 rs1353375682 |
466 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278514600 rs200502764 |
471 | I>T | No |
1000Genomes ClinGen |
|
|
rs781398276 CA7912024 |
471 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA278514598 rs751946182 |
472 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766730789 CA7912021 |
472 | Q>H | Variant assessed as Somatic; 9.297e-05 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs751946182 CA7912022 |
472 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs758872789 CA394810528 |
473 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758872789 CA7912020 |
473 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394810424 rs1221390573 |
476 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
rs750925651 CA7912019 |
477 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394810370 rs1286216193 |
478 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394810290 rs1349896100 |
481 | A>T | No |
gnomAD ClinGen |
|
|
rs761410045 CA7912017 |
483 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA7912016 rs753338523 |
486 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1347988895 CA394810202 |
487 | Q>R | No |
ClinGen Ensembl |
|
|
rs576638299 CA394810187 |
489 | E>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs576638299 CA7912013 |
489 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759449443 CA7912011 |
492 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759449443 CA394810129 |
492 | K>Q | No |
ExAC gnomAD ClinGen |
|
|
CA395183730 rs1421210480 |
494 | A>V | No |
ClinGen gnomAD |
|
|
rs1596486046 CA395183720 |
496 | N>T | No |
ClinGen Ensembl |
|
|
CA395183684 rs772982109 |
501 | A>E | No |
gnomAD ClinGen |
|
|
CA278954414 rs772982109 |
501 | A>V | No |
gnomAD ClinGen |
|
|
rs753428525 CA7911996 |
503 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA395183670 rs1381694012 |
503 | S>N | No |
ClinGen gnomAD |
|
|
rs1181154287 CA395183664 |
504 | Y>S | No |
gnomAD ClinGen |
|
|
CA395183644 rs1596485944 |
507 | Q>R | No |
Ensembl ClinGen |
|
|
CA7911991 rs759381342 |
511 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA7911990 rs773960871 |
512 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs1301681511 CA395183600 |
513 | M>I | No |
TOPMed gnomAD ClinGen |
|
|
CA7911989 rs770879057 |
513 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1443378199 CA395183599 |
514 | G>R | No |
TOPMed ClinGen |
|
|
CA7911988 rs762840315 |
515 | R>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA395183591 rs762840315 |
515 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 517 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355906019 CA395183571 |
518 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA7911985 rs768703719 |
525 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388144573 CA395183497 |
527 | T>S | No |
gnomAD ClinGen |
|
| TCGA novel | 534 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395183442 rs1165266227 |
534 | A>G | No |
gnomAD ClinGen |
|
| TCGA novel | 537 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395183416 rs183781022 |
538 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772124312 CA7911982 |
539 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234816011 CA395183397 |
541 | P>H | No |
ClinGen gnomAD |
|
|
CA278954413 rs921290559 |
541 | P>S | No |
ClinGen Ensembl |
|
|
rs745696590 CA278954412 |
542 | Q>* | No |
ClinGen gnomAD |
|
|
rs757878760 CA7911979 |
544 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA7911980 rs779379622 |
544 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA395183378 rs779379622 |
544 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777483879 CA7911977 |
545 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777483879 CA395183371 |
545 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7911978 rs754373655 |
545 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA7911975 rs752082579 |
546 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1408788429 CA395183359 |
547 | T>S | No |
ClinGen gnomAD |
|
|
CA7911974 rs375813873 |
552 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278954411 rs965806129 |
552 | Y>H | No |
ClinGen Ensembl |
|
|
CA7911973 rs754540436 |
554 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372489171 CA7911971 |
554 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372489171 CA395183312 |
554 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422104788 CA395183307 |
555 | N>S | No |
ClinGen gnomAD |
|
|
CA7911970 rs762930640 |
556 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs773124965 CA7911969 |
557 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA395184607 rs1330158566 |
560 | A>V | No |
ClinGen gnomAD |
|
|
rs767471431 CA7911947 |
562 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759859183 CA7911946 |
563 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA395184576 rs1178695130 |
566 | K>E | No |
gnomAD ClinGen |
|
|
rs1466683681 CA395184565 |
567 | R>I | No |
gnomAD ClinGen |
|
|
CA395184566 rs1466683681 |
567 | R>K | No |
gnomAD ClinGen |
|
| TCGA novel | 568 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430712816 CA395184541 |
570 | S>R | No |
ClinGen gnomAD |
|
|
CA395184536 rs1249152800 |
571 | P>L | No |
gnomAD ClinGen |
|
|
CA278950350 rs1024969576 |
572 | S>N | No |
TOPMed ClinGen |
|
|
rs201218893 CA278950349 |
574 | E>G | No |
ClinGen 1000Genomes |
|
|
CA7911940 rs748575531 |
578 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7911939 rs780807341 |
580 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA395184466 rs1292119672 |
582 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs554936469 CA278950347 |
583 | S>L | No |
ClinGen Ensembl |
|
|
rs779691333 CA7911936 |
584 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA395184427 rs1305045055 |
588 | D>A | No |
TOPMed ClinGen |
|
|
rs1305045055 CA395184426 |
588 | D>G | No |
ClinGen TOPMed |
|
|
rs750247455 CA7911934 |
588 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384912048 CA395184389 |
593 | Q>H | No |
ClinGen gnomAD |
|
|
CA7911931 rs767702074 |
595 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7911930 rs767702074 |
595 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051834133 CA278950345 |
596 | S>F | No |
gnomAD ClinGen |
|
|
rs1171075851 CA395184374 |
596 | S>P | No |
ClinGen gnomAD |
|
|
CA395184368 rs1391226093 |
597 | C>Y | No |
ClinGen gnomAD |
|
|
CA395184350 rs1448166079 |
599 | E>D | No |
ClinGen gnomAD |
|
|
rs1567284389 CA395184344 |
600 | P>L | No |
Ensembl ClinGen |
|
| TCGA novel | 603 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763229128 CA7911926 |
603 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1441379884 CA395184312 |
605 | R>S | No |
gnomAD ClinGen |
|
|
CA395184302 rs1446064936 |
607 | K>E | No |
TOPMed ClinGen |
|
|
CA395184291 rs1197244368 |
608 | A>G | No |
ClinGen gnomAD |
|
|
rs1246506935 CA395184293 |
608 | A>S | No |
TOPMed ClinGen |
|
|
rs770036450 CA7911923 |
609 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7911922 rs762444193 |
610 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs983131109 CA278950343 |
611 | L>F | No |
TOPMed ClinGen |
|
|
CA395184265 rs1361443338 |
612 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA278950342 rs201880801 |
613 | R>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 615 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7911920 rs769145313 |
616 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395184229 rs1340012887 |
617 | E>G | No |
ClinGen gnomAD |
|
|
rs1391593483 CA395184233 |
617 | E>K | No |
TOPMed ClinGen |
|
|
CA395184228 rs1340012887 |
617 | E>V | No |
gnomAD ClinGen |
|
|
CA278950340 rs925141238 |
618 | L>R | No |
Ensembl ClinGen |
|
|
rs1411833150 CA395184210 |
620 | P>L | No |
gnomAD ClinGen |
|
|
CA278950339 rs1035446181 |
620 | P>S | No |
ClinGen TOPMed |
|
|
rs1567278518 CA395183275 |
622 | G>E | No |
ClinGen Ensembl |
|
|
CA395183271 rs1247006812 |
623 | S>N | No |
ClinGen gnomAD |
|
|
rs535627250 CA7911900 |
624 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201963032 CA395183256 |
625 | S>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770532404 CA7911896 |
626 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777806186 CA7911895 |
627 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1267729369 CA395183238 |
628 | S>T | No |
gnomAD ClinGen |
|
|
CA395183232 rs1226742015 |
629 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA395183228 rs1370006633 |
629 | P>L | No |
ClinGen gnomAD |
|
|
rs1226742015 CA395183231 |
629 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747977146 CA7911892 |
630 | A>D | No |
ExAC gnomAD ClinGen |
|
|
CA7911890 rs369208675 |
631 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395183210 rs1240171187 |
633 | F>V | No |
TOPMed ClinGen |
|
|
CA7911889 rs750721134 |
634 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395183187 rs1415752954 |
636 | P>R | No |
ClinGen gnomAD |
|
|
rs1156331990 CA395183189 |
636 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 639 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171761147 CA395183170 |
639 | W>R | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 640 | W>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with O95453
[MIM: 616353]: Dyskeratosis congenita, autosomal recessive, 6 (DKCB6)
A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:25893599}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616371]: Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4 (PFBMFT4)
An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269|PubMed:25848748}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:25893599}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269|PubMed:25848748}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.13.4 | Exoribonucleases producing 5'-phosphomonoesters |
| Subcellular Localization |
|
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| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| 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. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule. |
| cation binding | Binding to a cation, a charged atom or group of atoms with a net positive charge. |
| metal ion binding | Binding to a metal ion. |
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| nuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids. |
| poly(A)-specific ribonuclease activity | Catalysis of the exonucleolytic cleavage of poly(A) to 5'-AMP. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| telomerase RNA binding | Binding to the telomerase RNA template. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| box H/ACA RNA 3'-end processing | Any process involved in forming the mature 3' end of a box H/ACA RNA molecule. |
| female gamete generation | Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction. |
| miRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of miRNA, microRNA, a class of single-stranded RNA molecules of about 21-23 nucleotides in length, which regulates gene expression. |
| ncRNA deadenylation | Shortening of the poly(A) tail of a nuclear-transcribed ncRNA. |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins. |
| nuclear-transcribed mRNA poly(A) tail shortening | Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length. |
| polyadenylation-dependent snoRNA 3'-end processing | Any process involved in forming the mature 3' end of a snoRNA molecule linked to prior polyadenylation of the 3'-end of the precursor snoRNA. |
| positive regulation of telomerase activity | Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
| positive regulation of telomere maintenance via telomerase | Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
| regulation of telomerase RNA localization to Cajal body | Any process that modulates the frequency, rate or extent of telomerase RNA localization to Cajal body. |
| RNA modification | The covalent alteration of one or more nucleotides within an RNA molecule to produce an RNA molecule with a sequence that differs from that coded genetically. |
| RNA phosphodiester bond hydrolysis, exonucleolytic | The chemical reactions and pathways involving the hydrolysis of terminal 3',5'-phosphodiester bonds in one or two strands of ribonucleotides. |
| telomerase RNA stabilization | Prevention of degradation of telomerase RNA (TERC) molecules. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q17QN2 | TOE1 | Target of EGR1 protein 1 | Bos taurus (Bovine) | PR |
| Q96GM8 | TOE1 | Target of EGR1 protein 1 | Homo sapiens (Human) | PR |
| Q6YYA3 | Os08g0360100 | Chloroplastic group IIA intron splicing facilitator CRS1, chloroplastic | Oryza sativa subsp japonica (Rice) | PR |
| Q9LF10 | At5g16180 | Chloroplastic group IIA intron splicing facilitator CRS1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEIIRSNFKS | NLHKVYQAIE | EADFFAIDGE | FSGISDGPSV | SALTNGFDTP | EERYQKLKKH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SMDFLLFQFG | LCTFKYDYTD | SKYITKSFNF | YVFPKPFNRS | SPDVKFVCQS | SSIDFLASQG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FDFNKVFRNG | IPYLNQEEER | QLREQYDEKR | SQANGAGALS | YVSPNTSKCP | VTIPEDQKKF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDQVVEKIED | LLQSEENKNL | DLEPCTGFQR | KLIYQTLSWK | YPKGIHVETL | ETEKKERYIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ISKVDEEERK | RREQQKHAKE | QEELNDAVGF | SRVIHAIANS | GKLVIGHNML | LDVMHTVHQF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YCPLPADLSE | FKEMTTCVFP | RLLDTKLMAS | TQPFKDIINN | TSLAELEKRL | KETPFNPPKV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESAEGFPSYD | TASEQLHEAG | YDAYITGLCF | ISMANYLGSF | LSPPKIHVSA | RSKLIEPFFN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLFLMRVMDI | PYLNLEGPDL | QPKRDHVLHV | TFPKEWKTSD | LYQLFSAFGN | IQISWIDDTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AFVSLSQPEQ | VKIAVNTSKY | AESYRIQTYA | EYMGRKQEEK | QIKRKWTEDS | WKEADSKRLN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PQCIPYTLQN | HYYRNNSFTA | PSTVGKRNLS | PSQEEAGLED | GVSGEISDTE | LEQTDSCAEP |
| 610 | 620 | 630 | |||
| LSEGRKKAKK | LKRMKKELSP | AGSISKNSPA | TLFEVPDTW |