Q8TE49
SS
Gene name |
OTUD7A (C15orf16, CEZANNE2, OTUD7) |
Protein name |
OTU domain-containing protein 7A |
Names |
Zinc finger protein Cezanne 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:161725 |
EC number |
3.4.19.12: Omega peptidases |
Protein Class |
|
Descriptions
Deubiquitinating enzymes of the ovarian tumour (OTU) family regulate cellular signalling by targeting distinct linkage types within polyubiquitin. OTUD7B regulates inflammation and NK-kB signaling, T-cell activation, and EGFR trafficking. A human homolog OTUD7B is autoinhibited by the Cys-loop that occupies the channel that binds the C-terminal tail of distal ubiquitin.
Autoinhibitory domains (AIDs)
Target domain |
199-374 (OTU domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q8TE49
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2L2D | NMR | - | A | 11-83 | PDB |
| AF-Q8TE49-F1 | Predicted | AlphaFoldDB |
661 variants for Q8TE49
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001263452 rs1162953058 RCV001263453 |
233 | L>F | Disorder of language [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7454016 rs147784448 |
7 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391893600 rs1465174455 |
8 | N>D | No |
ClinGen TOPMed |
|
|
rs560227195 CA7454015 |
8 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1339958065 CA391893579 |
11 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754230364 CA7454013 |
15 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA391893550 rs754230364 |
15 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA391893546 rs1191463217 |
16 | A>T | No |
ClinGen gnomAD |
|
|
CA391893537 rs1341720874 |
17 | A>G | No |
ClinGen gnomAD |
|
|
rs1031029961 CA267966744 |
17 | A>T | No |
ClinGen TOPMed |
|
|
rs1231269955 CA391893527 |
19 | L>Q | No |
ClinGen TOPMed |
|
|
CA391893524 rs1312003449 |
20 | H>N | No |
ClinGen TOPMed |
|
|
CA391893506 rs1164653855 |
22 | P>S | No |
ClinGen gnomAD |
|
|
rs1457927966 CA391893502 |
23 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391893489 rs577694466 |
24 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs577694466 CA267966739 |
24 | T>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs767434432 CA7454009 |
25 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7454007 rs774331151 |
29 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391893458 rs774331151 |
29 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391893419 rs202241941 |
35 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7454006 rs202241941 |
35 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391893411 rs1269662238 |
36 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200271318 CA7454005 |
38 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391893357 rs1190439211 |
45 | A>V | No |
ClinGen TOPMed |
|
|
CA391893352 rs1319189728 |
46 | R>K | No |
ClinGen gnomAD |
|
|
rs780249940 CA7453953 |
57 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780249940 CA391893264 |
57 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267891197 rs531451892 |
59 | A>T | No |
ClinGen Ensembl |
|
|
COSM1372359 rs1355082202 CA391893238 |
62 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA391893229 rs1462543388 |
63 | Y>H | No |
ClinGen TOPMed |
|
|
rs376250531 CA7453949 |
64 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391893216 rs376250531 |
64 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1312375127 CA391893214 |
65 | Q>E | No |
ClinGen TOPMed |
|
|
rs753595627 CA7453948 |
67 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7453947 rs763917042 |
67 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs201566439 CA7453945 |
70 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767260024 CA7453944 |
71 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759009093 CA7453943 |
73 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368563530 CA391893162 |
73 | N>S | No |
ClinGen gnomAD |
|
|
CA7453942 rs773873053 |
74 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs765685756 CA7453941 |
74 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs373657363 CA7453938 |
76 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353332756 CA391893112 |
77 | V>A | No |
ClinGen gnomAD |
|
|
CA267891148 rs918076876 |
79 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391893053 rs1192644079 |
81 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1192644079 CA391893055 |
81 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391893031 rs377428324 |
82 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377428324 CA7453934 |
82 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM960432 CA7453935 rs772302638 |
82 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs879033998 CA267891114 |
83 | G>A | No |
ClinGen gnomAD |
|
|
CA267891117 rs144295571 |
83 | G>C | No |
ClinGen ESP gnomAD |
|
|
rs144295571 CA391893029 |
83 | G>R | No |
ClinGen ESP gnomAD |
|
|
CA267891120 rs144295571 |
83 | G>S | No |
ClinGen ESP gnomAD |
|
|
rs879033998 CA391893020 |
83 | G>V | No |
ClinGen gnomAD |
|
|
CA7453933 rs142098732 |
85 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM960431 rs757148409 CA7453932 |
89 | R>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749317299 CA7453931 COSM416519 |
89 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7453930 rs777843741 |
90 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs920188851 CA267891101 |
92 | Q>P | No |
ClinGen TOPMed |
|
|
rs756026648 CA7453929 |
93 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA391892881 rs756026648 |
93 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs564035759 CA7453927 |
94 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391892862 rs373392736 |
95 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7453926 rs373392736 |
95 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA267891091 rs866990971 |
97 | V>M | No |
ClinGen Ensembl |
|
|
rs145800618 CA7453925 |
99 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7453922 rs777178630 |
100 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs762363596 CA7453923 |
100 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7453920 rs761064293 |
103 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA391892742 rs1432554912 |
104 | R>K | No |
ClinGen TOPMed |
|
|
rs775788490 CA391892740 |
104 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453918 rs772203594 |
105 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7453917 rs746041746 |
106 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749360205 CA7453914 |
107 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs369309742 CA7453915 |
107 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334762255 CA391894130 |
113 | R>Q | No |
ClinGen gnomAD |
|
|
CA391894117 rs1181055399 |
115 | S>C | No |
ClinGen TOPMed |
|
|
rs1566919799 CA391894111 |
116 | R>L | No |
ClinGen Ensembl |
|
|
rs1566919799 CA391894113 |
116 | R>Q | No |
ClinGen Ensembl |
|
|
CA391894114 COSM1260732 rs1220780501 |
116 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA391894095 rs1318523281 |
119 | S>A | No |
ClinGen gnomAD |
|
|
rs368694602 CA7453893 |
120 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391894083 rs1310851544 |
121 | A>P | No |
ClinGen gnomAD |
|
|
CA391894065 rs1382408724 |
123 | S>L | No |
ClinGen gnomAD |
|
|
CA391894063 rs1327330068 |
124 | A>P | No |
ClinGen gnomAD |
|
|
CA7453892 rs375689574 |
125 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1372358 rs746758362 CA7453890 |
126 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7453889 rs779796681 |
130 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA267885557 rs557634382 |
130 | R>W | No |
ClinGen TOPMed |
|
|
CA7453887 rs778333804 |
132 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758002887 CA7453888 |
132 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs968208748 CA267885529 |
133 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA391894006 rs1444795309 |
134 | A>G | No |
ClinGen TOPMed |
|
|
rs756615752 CA7453885 |
135 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs753263228 CA7453884 |
139 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1269968089 CA391893966 |
140 | E>K | No |
ClinGen gnomAD |
|
|
CA391893952 rs1555396371 |
141 | Q>H | No |
ClinGen Ensembl |
|
|
CA7453882 rs759989767 |
142 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1260733 CA7453881 rs751834860 |
143 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7453880 rs766647137 |
144 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1227130286 CA391893910 |
148 | I>V | No |
ClinGen TOPMed |
|
|
rs147159299 CA7453878 |
149 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7453876 rs761969507 |
152 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs771722830 CA7453871 |
157 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144509293 CA7453870 |
158 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438898085 CA391893837 |
159 | Y>H | No |
ClinGen gnomAD |
|
|
CA391893822 rs1194383682 |
161 | E>K | No |
ClinGen gnomAD |
|
|
CA267885448 rs994568456 |
168 | E>K | No |
ClinGen Ensembl |
|
|
rs751971186 CA7453864 |
169 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7453865 rs755395811 |
169 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7453841 COSM960429 rs758880132 |
185 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1376932628 CA391893132 |
185 | R>H | No |
ClinGen TOPMed |
|
|
CA7453838 rs757372129 |
191 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7453837 rs753965101 |
193 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764011689 CA7453836 COSM960428 |
194 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200755213 CA7453834 COSM1286931 |
198 | R>Q | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1040586141 CA267868269 |
200 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA267868264 rs146170863 COSM109177 |
201 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs2042074499 RCV001200098 |
207 | D>missing | No |
ClinVar dbSNP |
|
|
rs779361631 CA7453821 |
218 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA391892671 rs1428309028 |
219 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7453818 rs146312938 |
224 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA267865833 rs770229460 |
225 | R>W | No |
ClinGen Ensembl |
|
|
CA267865830 rs945161307 |
228 | V>A | No |
ClinGen TOPMed |
|
|
CA391892584 rs1162953058 |
233 | L>V | No |
ClinGen TOPMed |
|
|
CA391892574 rs1425714816 |
234 | Y>C | No |
ClinGen TOPMed |
|
|
CA7453815 rs767465863 |
235 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913728838 CA267865820 |
236 | M>V | No |
ClinGen TOPMed |
|
|
rs376743119 CA7453813 |
239 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391892524 rs1377808017 |
242 | E>K | No |
ClinGen TOPMed |
|
|
CA7453810 rs542835665 |
244 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574120169 CA7453809 |
245 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776228130 CA7453807 |
247 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs144295518 CA7453808 |
247 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391892483 rs1314456081 |
248 | R>Q | No |
ClinGen TOPMed |
|
|
CA7453805 rs746309444 |
253 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1175972531 CA391892438 |
254 | Q>R | No |
ClinGen gnomAD |
|
|
rs779556742 CA7453804 |
255 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981380999 CA267865763 |
256 | Q>R | No |
ClinGen Ensembl |
|
|
CA7453765 rs149500265 |
265 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368731598 CA7453766 |
265 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1595584178 CA391892332 |
267 | W>G | No |
ClinGen Ensembl |
|
|
CA7453764 rs776882002 |
268 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453762 rs747079415 |
269 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780120499 CA7453761 |
272 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373708698 CA7453759 |
277 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192790812 CA391892262 |
278 | P>S | No |
ClinGen gnomAD |
|
|
CA391892256 rs1254939565 |
279 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs866985676 CA267864618 |
279 | R>H | No |
ClinGen gnomAD |
|
|
CA391892231 rs1271006267 |
283 | S>G | No |
ClinGen TOPMed |
|
|
rs1288354968 CA391892208 |
285 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7453757 rs757165485 |
286 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA391892207 rs1197864214 |
286 | G>S | No |
ClinGen gnomAD |
|
|
rs752152442 CA7453753 |
287 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453754 rs755772478 |
287 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767123271 CA7453752 |
288 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391892191 rs1330395001 |
289 | G>S | No |
ClinGen gnomAD |
|
|
CA7453747 rs200886928 |
290 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7453746 rs200886928 |
290 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7453745 rs760880134 |
290 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs200886928 CA7453748 |
290 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391892184 rs1167780057 |
291 | G>S | No |
ClinGen gnomAD |
|
|
CA267842028 rs938486951 |
294 | N>S | No |
ClinGen TOPMed |
|
|
CA391892138 rs1595561721 |
295 | S>C | No |
ClinGen Ensembl |
|
|
CA267842013 rs147009957 |
296 | E>Q | No |
ClinGen ESP |
|
|
rs765753323 CA7453732 |
299 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754202329 CA7453730 |
301 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs546653647 CA391892023 |
312 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs775830047 CA7453727 |
312 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546653647 CA267842004 |
312 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA267842001 rs775245952 |
314 | I>V | No |
ClinGen Ensembl |
|
|
CA391891985 rs1260177270 |
318 | P>S | No |
ClinGen gnomAD |
|
|
rs539693104 CA7453724 |
320 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391891949 rs1442354186 |
324 | D>N | No |
ClinGen TOPMed |
|
|
rs889891165 CA267841989 |
326 | M>V | No |
ClinGen gnomAD |
|
|
CA7453722 rs749306226 |
328 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7453721 rs777841526 |
330 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA391891900 rs1388491411 |
331 | G>D | No |
ClinGen gnomAD |
|
|
rs1262195587 CA391891894 |
332 | G>E | No |
ClinGen gnomAD |
|
|
rs1595561647 CA391891882 |
334 | A>P | No |
ClinGen Ensembl |
|
|
rs371186560 CA7453699 |
336 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391891823 rs1595560311 |
341 | G>R | No |
ClinGen Ensembl |
|
|
CA391891808 rs1265974433 |
343 | I>T | No |
ClinGen gnomAD |
|
|
rs746727218 CA7453698 |
344 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1199766537 CA391891771 |
349 | V>F | No |
ClinGen TOPMed |
|
|
rs745350783 CA7453695 |
351 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7453694 rs778373603 |
353 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA267840025 rs547988463 |
354 | C>R | No |
ClinGen 1000Genomes |
|
|
CA267840021 rs895261195 |
357 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391891606 rs1455211210 |
374 | M>T | No |
ClinGen gnomAD |
|
|
CA391891585 rs1291340948 |
377 | R>G | No |
ClinGen TOPMed |
|
|
rs765236899 CA7453685 |
377 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7453683 rs776624800 |
380 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs370438219 CA7453682 |
380 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs988444334 CA267839941 |
381 | R>S | No |
ClinGen gnomAD |
|
|
CA391891549 rs1327725413 |
382 | E>K | No |
ClinGen TOPMed |
|
|
rs1482811409 CA391891539 |
383 | Q>K | No |
ClinGen gnomAD |
|
|
CA7453660 rs774039859 |
385 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs540936484 CA267562901 |
389 | T>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA391535637 rs540936484 |
389 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA267562899 rs980191621 |
398 | L>V | No |
ClinGen Ensembl |
|
|
CA7453656 rs769238713 |
401 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7453655 rs373009531 |
402 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7453653 rs758827094 |
403 | D>E | No |
ClinGen ExAC |
|
|
rs1189870973 CA391535536 |
405 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1424609508 CA391535525 |
407 | D>N | No |
ClinGen gnomAD |
|
|
rs750664811 CA7453652 |
408 | W>G | No |
ClinGen ExAC |
|
|
CA391535509 rs1255755130 |
409 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA391535508 rs1255755130 |
409 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA391535487 rs1194968943 |
410 | W>C | No |
ClinGen TOPMed |
|
|
CA391535492 rs1486909327 |
410 | W>S | No |
ClinGen gnomAD |
|
|
CA7453650 rs367797929 |
411 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208628951 CA391535474 |
412 | K>T | No |
ClinGen gnomAD |
|
|
CA391535464 rs1314470160 |
413 | D>V | No |
ClinGen gnomAD |
|
|
rs138638617 CA7453648 |
414 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7453645 rs767359413 |
416 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752492584 CA7453646 |
416 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145796011 CA391535416 |
417 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773917546 CA7453643 |
418 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA391535413 rs773917546 |
418 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA391535406 rs770581311 |
419 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149266036 CA7453641 |
419 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7453642 rs770581311 |
419 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328086058 CA391535393 |
421 | A>T | No |
ClinGen TOPMed |
|
|
CA7453620 rs776178390 |
424 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA391535258 rs1274425855 |
426 | S>L | No |
ClinGen TOPMed |
|
|
rs774717523 CA7453617 |
430 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs571878696 CA391535166 |
432 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1180642646 CA391535151 |
433 | L>V | No |
ClinGen gnomAD |
|
|
rs1013534350 CA267562727 |
435 | H>Y | No |
ClinGen TOPMed |
|
|
rs1274925358 CA391535107 |
436 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA391535026 rs140728111 |
439 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756227297 CA7453613 |
440 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7453612 rs779792575 |
441 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391534898 rs1371341115 |
444 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781133041 CA7453611 |
444 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA391534856 rs1428104635 |
446 | P>L | No |
ClinGen gnomAD |
|
|
CA7453607 rs758112243 |
449 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764949219 CA7453605 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453606 rs750145765 |
450 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1240708941 CA391533823 |
452 | P>L | No |
ClinGen gnomAD |
|
|
rs1247356823 CA391533805 |
454 | A>V | No |
ClinGen gnomAD |
|
|
CA391533800 rs1213326141 |
455 | Q>K | No |
ClinGen gnomAD |
|
|
rs752148499 CA7453583 |
456 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs373899339 CA7453580 |
461 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391533741 rs1162191934 |
461 | A>V | No |
ClinGen gnomAD |
|
|
CA391533727 rs1319174420 |
463 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1319174420 CA391533730 |
463 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7453578 rs762093336 |
464 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA391533719 rs762093336 |
464 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7453576 rs768826447 |
467 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1389436597 CA391533359 |
471 | A>D | No |
ClinGen gnomAD |
|
|
CA391533363 rs1449566409 |
471 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1489456306 CA391533328 COSM3420229 |
473 | S>L | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA391533321 rs1247061634 |
474 | L>P | No |
ClinGen gnomAD |
|
|
CA391533317 rs1220561013 |
475 | D>H | No |
ClinGen gnomAD |
|
|
CA391533315 rs1220561013 |
475 | D>Y | No |
ClinGen gnomAD |
|
|
CA7453573 rs573163595 |
476 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745670428 CA7453572 |
478 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA391533275 rs1229177010 |
478 | R>H | No |
ClinGen gnomAD |
|
|
rs778782844 CA7453571 |
480 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7453570 rs76704217 |
481 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7453569 rs753602457 |
483 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753602457 CA391533218 |
483 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777260675 CA7453568 |
484 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755681800 CA7453567 |
485 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA391533190 rs1283081857 |
485 | S>T | No |
ClinGen TOPMed |
|
|
rs1036676805 CA391533158 |
486 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7453565 rs148643263 |
488 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752101108 CA7453566 |
488 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA391533113 rs1341240836 |
490 | G>S | No |
ClinGen TOPMed |
|
|
rs1438260003 CA391533087 |
491 | K>N | No |
ClinGen TOPMed |
|
|
rs1202702330 CA391533093 |
491 | K>R | No |
ClinGen TOPMed |
|
|
rs1202702330 CA391533095 |
491 | K>T | No |
ClinGen TOPMed |
|
|
rs1479349806 CA391533060 |
493 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391533062 rs1479349806 |
493 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765651339 CA7453561 |
493 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776947158 CA7453558 |
495 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA391533020 rs1566878372 |
496 | K>E | No |
ClinGen Ensembl |
|
|
CA7453556 rs768716767 |
497 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453553 rs760827166 |
498 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775372326 CA7453551 |
500 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA391532931 rs772137593 |
501 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745866687 CA7453549 |
502 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7453548 COSM3401669 rs770898697 |
502 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs770898697 CA7453547 |
502 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1467152238 CA391532907 |
504 | E>K | No |
ClinGen gnomAD |
|
|
rs1595549363 CA391532876 |
506 | D>N | No |
ClinGen Ensembl |
|
|
CA7453543 rs777504137 |
508 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747699554 CA7453541 |
509 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1299541782 CA391532836 |
510 | A>T | No |
ClinGen TOPMed |
|
|
rs1183626328 CA391532821 |
512 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA391532816 rs1566878304 |
513 | V>M | No |
ClinGen Ensembl |
|
|
CA391532749 rs1331928129 |
518 | G>D | No |
ClinGen gnomAD |
|
|
rs201681150 CA7453536 |
521 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267561618 rs908053565 |
521 | S>N | No |
ClinGen Ensembl |
|
|
rs754099176 CA267561615 |
524 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453535 rs754099176 |
524 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187126565 CA391532655 |
525 | G>S | No |
ClinGen TOPMed |
|
|
rs1390756766 CA391532509 |
532 | M>V | No |
ClinGen gnomAD |
|
|
CA391532479 rs1423629346 |
533 | G>C | No |
ClinGen TOPMed |
|
|
rs759665162 CA7453530 |
534 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA267561584 rs991492547 |
535 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA391532421 rs1255554443 |
536 | G>A | No |
ClinGen gnomAD |
|
|
rs930742944 CA267561583 |
536 | G>S | No |
ClinGen Ensembl |
|
|
rs1466592678 CA391532410 |
537 | G>C | No |
ClinGen gnomAD |
|
|
CA391532397 rs1249211351 |
539 | V>M | No |
ClinGen gnomAD |
|
|
rs143552707 CA391532337 |
541 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143552707 CA7453526 |
541 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143552707 CA267561571 |
541 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547619116 CA267561567 |
542 | K>N | No |
ClinGen Ensembl |
|
|
rs1246512709 CA391532297 |
542 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7453524 rs747816795 |
543 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916694232 CA267561552 |
543 | M>R | No |
ClinGen TOPMed |
|
|
rs916694232 CA267561564 |
543 | M>T | No |
ClinGen TOPMed |
|
|
CA391532251 rs1243160730 |
544 | G>D | No |
ClinGen gnomAD |
|
|
CA391532257 rs1313657937 |
544 | G>R | No |
ClinGen gnomAD |
|
|
CA391532252 rs1243160730 |
544 | G>V | No |
ClinGen gnomAD |
|
|
rs1321177664 CA391532240 |
545 | R>H | No |
ClinGen gnomAD |
|
|
rs746478184 CA7453522 |
546 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746478184 CA7453521 |
546 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376166961 CA7453518 |
547 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391532214 rs1295128778 |
547 | N>S | No |
ClinGen gnomAD |
|
|
rs1368128959 CA391532200 |
548 | S>Y | No |
ClinGen gnomAD |
|
|
rs139698222 CA7453517 |
549 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391532175 rs1595549152 |
549 | A>V | No |
ClinGen Ensembl |
|
|
CA7453516 rs756486129 |
550 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767816101 CA7453514 |
551 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759711852 CA7453513 |
553 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA267561529 rs961032795 |
556 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1317059312 CA391532061 |
557 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391532063 rs1317059312 |
557 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200619668 CA391532040 |
558 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1290613571 CA391532030 |
559 | R>Q | No |
ClinGen gnomAD |
|
|
rs1343640743 CA391532020 |
560 | G>D | No |
ClinGen gnomAD |
|
|
rs377720188 CA7453512 |
560 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7453511 rs377720188 |
560 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7453509 rs762868193 |
564 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773190159 CA7453508 |
564 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769530133 CA7453507 |
565 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA7453506 rs769530133 |
565 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA391531912 rs1387156843 |
565 | A>V | No |
ClinGen gnomAD |
|
|
rs928564075 CA267561484 |
568 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7453503 rs776292350 |
568 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7453504 rs776292350 |
568 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs928564075 CA391531882 |
568 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA267561464 rs542041260 |
570 | G>S | No |
ClinGen gnomAD |
|
|
CA267561446 rs1049427083 |
571 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7453501 rs746533038 |
572 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs202059339 CA7453499 |
574 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7453498 rs199588939 |
574 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391531756 rs778320475 |
574 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs141917827 CA7453495 |
576 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1595549019 CA391531742 |
576 | G>R | No |
ClinGen Ensembl |
|
|
rs934474196 CA267561419 |
577 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373551661 CA7453493 |
578 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7453494 rs753063171 |
578 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA267561414 rs373551661 |
578 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7453492 rs755186003 |
579 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751829186 CA7453491 |
580 | S>G | No |
ClinGen ExAC |
|
|
CA267561406 rs372490862 |
582 | S>P | No |
ClinGen Ensembl |
|
|
CA7453490 rs200515947 |
583 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200515947 CA7453489 |
583 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391531631 rs1445327076 |
584 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765185735 CA7453487 |
584 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs867094201 CA7453484 |
585 | E>K | No |
ClinGen TOPMed |
|
|
rs1404934952 CA391531592 |
586 | K>N | No |
ClinGen gnomAD |
|
|
CA267561391 rs957095921 |
586 | K>Q | No |
ClinGen Ensembl |
|
|
rs768298436 CA7453482 |
589 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7453481 rs775111666 |
589 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775111666 CA7453480 |
589 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768298436 CA391531557 |
589 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473335284 CA391531536 |
590 | S>L | No |
ClinGen gnomAD |
|
|
rs1029181659 CA267561381 |
593 | D>E | No |
ClinGen Ensembl |
|
|
CA7453476 rs770277016 |
594 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745353645 CA7453478 |
594 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257715562 CA391531461 |
595 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7453475 rs748527094 |
596 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391531437 rs780288435 |
597 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780288435 CA7453472 |
597 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7453471 rs780288435 |
597 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA391531432 rs758435743 |
598 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453470 rs758435743 |
598 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279224256 CA391531411 |
599 | S>W | No |
ClinGen gnomAD |
|
|
CA7453468 rs570970882 |
601 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391531386 rs570970882 |
601 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452543368 CA391531379 |
602 | E>* | No |
ClinGen gnomAD |
|
|
CA267561345 rs1040592475 |
602 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391531374 rs1040592475 |
602 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA267561338 rs530871959 |
604 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs763936552 CA7453465 |
604 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA391531344 rs1009525054 |
605 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1009525054 CA267561325 |
605 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs953664378 CA267561315 |
606 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs767158283 CA7453462 |
607 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773844518 CA7453461 |
608 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs773844518 CA7453460 |
608 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1222269839 CA391531311 |
609 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770341738 CA7453459 |
609 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777253089 CA391531297 |
610 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748721291 CA7453458 |
610 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769179473 CA7453456 |
611 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270103458 CA391531265 |
613 | K>R | No |
ClinGen gnomAD |
|
|
rs375688748 CA267561301 |
615 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391531247 rs1381174312 |
615 | S>R | No |
ClinGen gnomAD |
|
|
rs375688748 CA7453455 |
615 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344958243 CA391531203 |
619 | K>E | No |
ClinGen gnomAD |
|
|
CA391531197 rs1316762101 |
619 | K>R | No |
ClinGen gnomAD |
|
|
rs745943501 CA7453452 |
622 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757317947 CA7453450 |
624 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779119499 CA7453451 |
624 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391531141 rs1403355776 |
625 | L>V | No |
ClinGen gnomAD |
|
|
rs1453485953 CA391531121 |
627 | A>D | No |
ClinGen gnomAD |
|
|
rs1213390390 CA391531126 |
627 | A>T | No |
ClinGen gnomAD |
|
|
CA391531108 rs1222077445 |
628 | A>V | No |
ClinGen gnomAD |
|
|
CA391531061 rs1198174843 |
632 | E>V | No |
ClinGen TOPMed |
|
|
CA391531048 rs1229777882 |
633 | R>P | No |
ClinGen gnomAD |
|
|
CA391531036 rs1461490431 |
635 | F>I | No |
ClinGen TOPMed |
|
|
rs759299434 CA7453444 |
638 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1251816174 CA391530931 |
644 | S>R | No |
ClinGen Ensembl |
|
|
rs1418728887 CA391530909 |
646 | R>Q | No |
ClinGen gnomAD |
|
|
rs777306099 CA7453440 |
650 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs528784908 CA7453439 |
651 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528784908 CA7453438 |
651 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391530809 rs1198949919 |
651 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA391530807 rs1198949919 |
651 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775860709 CA7453437 |
652 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775860709 CA391530791 |
652 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371398471 CA7453436 |
655 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757369006 CA7453433 |
660 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367601135 CA7453432 |
660 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267561169 rs367601135 |
660 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755978182 CA7453430 |
663 | E>Q | No |
ClinGen ExAC |
|
|
CA7453429 rs752571328 |
665 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343259835 CA391530523 |
666 | S>G | No |
ClinGen gnomAD |
|
|
CA391530506 rs1309256889 |
667 | A>T | No |
ClinGen gnomAD |
|
|
CA391530455 rs1168202446 |
669 | Q>L | No |
ClinGen gnomAD |
|
|
rs762570640 CA7453424 |
674 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762570640 CA391530352 |
674 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479543750 CA391530336 |
675 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA267561135 rs749890600 |
675 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479543750 CA391530339 |
675 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs764707757 CA7453422 |
676 | A>D | No |
ClinGen ExAC |
|
|
CA391530330 rs1177809049 |
676 | A>P | No |
ClinGen gnomAD |
|
|
CA7453421 rs761314604 |
678 | T>A | No |
ClinGen ExAC |
|
|
CA391530294 rs1480333218 |
678 | T>I | No |
ClinGen gnomAD |
|
|
rs1186820982 CA391530279 |
679 | A>E | No |
ClinGen TOPMed |
|
|
rs759790290 CA391530269 |
680 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs759790290 CA7453418 |
680 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7453416 rs771093575 |
681 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320914831 CA391530231 |
682 | A>V | No |
ClinGen gnomAD |
|
|
CA391530182 rs1216305527 |
686 | A>T | No |
ClinGen TOPMed |
|
|
rs1269447815 CA391530172 |
687 | A>T | No |
ClinGen TOPMed |
|
|
CA391530153 rs1413961998 |
688 | A>T | No |
ClinGen gnomAD |
|
|
rs1380147821 CA391530145 |
689 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1418784072 CA391530087 |
690 | T>M | No |
ClinGen gnomAD |
|
|
rs1482686339 CA391530079 |
691 | A>V | No |
ClinGen TOPMed |
|
|
CA391530037 rs1231226268 |
693 | R>Q | No |
ClinGen TOPMed |
|
|
CA391530006 rs1183676874 |
695 | P>R | No |
ClinGen gnomAD |
|
|
rs769850638 CA7453400 |
697 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267560988 rs769850638 |
697 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391529945 rs1202126443 |
698 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391529949 rs1202126443 |
698 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1165855515 CA391529903 |
701 | E>K | No |
ClinGen TOPMed |
|
|
CA391529881 rs1386467716 |
702 | G>D | No |
ClinGen TOPMed |
|
|
rs1261739422 CA391529888 |
702 | G>S | No |
ClinGen gnomAD |
|
|
CA391529868 rs1429645132 |
703 | V>L | No |
ClinGen TOPMed |
|
|
rs1167990445 CA391529852 |
704 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1442236172 CA391529836 |
704 | P>L | No |
ClinGen TOPMed |
|
|
CA391529849 rs1167990445 |
704 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs987671833 CA267560987 |
705 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1029232760 CA267560976 |
707 | E>Q | No |
ClinGen TOPMed |
|
|
rs865777267 CA267560971 |
709 | A>V | No |
ClinGen Ensembl |
|
|
CA391529701 rs1212709199 |
711 | P>A | No |
ClinGen TOPMed |
|
|
rs1335963483 CA391529621 |
715 | T>M | No |
ClinGen gnomAD |
|
|
rs748164047 CA7453399 |
716 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA267560968 rs1011194189 |
717 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1453242863 CA391529544 |
719 | L>F | No |
ClinGen gnomAD |
|
|
CA7453398 rs780958444 |
720 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032679982 CA267560961 |
720 | K>T | No |
ClinGen TOPMed |
|
|
CA391529406 rs1166943623 |
724 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA267560947 rs868534235 |
726 | S>I | No |
ClinGen Ensembl |
|
|
CA391529330 rs1202782686 |
726 | S>R | No |
ClinGen gnomAD |
|
|
rs754831630 CA391529316 |
727 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453397 rs754831630 |
727 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362255632 CA391529324 |
727 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1174742672 CA391529314 |
728 | G>R | No |
ClinGen TOPMed |
|
|
CA391529313 rs1174742672 |
728 | G>R | No |
ClinGen TOPMed |
|
|
rs998975517 CA391529277 |
729 | P>L | No |
ClinGen TOPMed |
|
|
rs998975517 CA267560938 |
729 | P>R | No |
ClinGen TOPMed |
|
|
CA267560919 rs1045949305 |
731 | A>T | No |
ClinGen TOPMed |
|
|
rs1308774867 CA391529187 |
733 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1391629863 CA391529122 |
735 | A>G | No |
ClinGen gnomAD |
|
|
rs1372079120 CA391529048 |
738 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391529027 rs1263936759 |
740 | G>S | No |
ClinGen TOPMed |
|
|
CA391529001 rs1476020606 |
741 | G>D | No |
ClinGen TOPMed |
|
|
CA267560904 rs865943714 |
741 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1424171257 CA391528993 |
742 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1383446036 CA391528930 |
744 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391528897 rs1349464119 |
745 | P>L | No |
ClinGen Ensembl |
|
|
rs1250031637 CA391528892 |
746 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391528884 rs1250031637 |
746 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA267560898 rs894341568 |
747 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs894341568 CA391528826 |
747 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA391528823 rs894341568 |
747 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391528786 rs1203818375 |
749 | A>P | No |
ClinGen TOPMed |
|
|
CA391528773 rs1595548068 |
750 | R>G | No |
ClinGen Ensembl |
|
|
CA391528769 rs1222388645 |
750 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA391528756 rs1448122099 |
751 | R>H | No |
ClinGen TOPMed |
|
|
rs1267328723 CA391528733 |
752 | A>V | No |
ClinGen TOPMed |
|
|
rs2338681 CA7453396 |
753 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1204926546 CA391528685 |
754 | A>S | No |
ClinGen gnomAD |
|
|
CA391528615 rs1239092241 |
756 | G>E | No |
ClinGen gnomAD |
|
|
rs1261980069 CA391528618 |
756 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391528587 rs920557177 |
757 | P>L | No |
ClinGen TOPMed |
|
|
CA267560883 rs920557177 |
757 | P>Q | No |
ClinGen TOPMed |
|
|
CA391528584 rs1160124504 |
758 | V>L | No |
ClinGen TOPMed |
|
|
CA267560878 rs940744523 |
759 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1304385572 CA391528552 |
759 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1302535094 CA391528506 |
761 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1406912788 CA391528519 |
761 | R>S | No |
ClinGen TOPMed |
|
|
rs1237115774 CA391528434 |
763 | P>R | No |
ClinGen TOPMed |
|
|
rs564071366 CA267560858 |
763 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA391528399 rs1290739551 |
764 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391528414 rs1386961740 |
764 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1249172122 CA391528377 |
765 | A>V | No |
ClinGen TOPMed |
|
|
CA267560854 rs544341832 |
766 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs575385845 CA267560852 |
767 | A>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA391528331 rs575385845 |
767 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1443783655 CA391528315 |
767 | A>V | No |
ClinGen TOPMed |
|
|
CA391528313 rs1161436802 |
768 | R>C | No |
ClinGen TOPMed |
|
|
CA267560849 rs953515031 |
771 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA267560845 rs922132216 |
772 | I>L | No |
ClinGen TOPMed |
|
|
CA391528177 rs1199069013 |
774 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1430447560 CA391528203 |
774 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391528115 rs1452455639 |
777 | S>L | No |
ClinGen TOPMed |
|
|
rs1377845688 CA391528124 |
777 | S>T | No |
ClinGen TOPMed |
|
|
rs1313817727 CA391528098 |
779 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1243683746 CA391528065 |
779 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA267560838 rs958282932 |
780 | R>Q | No |
ClinGen TOPMed |
|
|
rs1273354626 CA391528012 |
781 | D>E | No |
ClinGen TOPMed |
|
|
rs1460588435 CA391527985 |
782 | E>D | No |
ClinGen TOPMed |
|
|
rs1328139261 CA391527910 |
784 | C>W | No |
ClinGen gnomAD |
|
|
rs1295958406 CA391527879 |
786 | P>L | No |
ClinGen gnomAD |
|
|
CA391527855 rs1181579842 |
787 | A>V | No |
ClinGen TOPMed |
|
|
rs1381462251 CA391527850 |
788 | V>M | No |
ClinGen gnomAD |
|
|
CA391527834 rs1444975763 |
789 | G>R | No |
ClinGen TOPMed |
|
|
rs1425598159 CA391527766 |
792 | R>W | No |
ClinGen gnomAD |
|
|
CA267560829 rs112910059 |
793 | P>L | No |
ClinGen Ensembl |
|
|
CA391527476 rs1334918774 |
799 | Q>R | No |
ClinGen TOPMed |
|
|
CA391527457 rs1385460356 |
800 | Q>E | No |
ClinGen TOPMed |
|
|
CA391527412 rs1566877158 |
801 | N>S | No |
ClinGen Ensembl |
|
|
CA391527396 rs1396913221 |
802 | R>C | No |
ClinGen TOPMed |
|
|
rs1432105897 CA391527391 |
802 | R>H | No |
ClinGen gnomAD |
|
|
rs1485241895 CA391527381 |
803 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA391527324 rs1325194931 |
805 | S>L | No |
ClinGen TOPMed |
|
|
rs1258658303 CA391527276 |
807 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA391527237 rs1322446593 |
808 | S>N | No |
ClinGen TOPMed |
|
|
rs1264564751 CA391527211 |
809 | Y>C | No |
ClinGen TOPMed |
|
|
rs1024044604 CA267560817 |
810 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs868000122 CA267560815 |
812 | A>T | No |
ClinGen Ensembl |
|
|
rs1195484005 CA391527127 |
814 | A>T | No |
ClinGen TOPMed |
|
|
CA267560814 rs894310446 |
814 | A>V | No |
ClinGen TOPMed |
|
|
CA391527093 rs1174556365 |
815 | A>V | No |
ClinGen TOPMed |
|
|
CA391527091 rs1408480931 |
816 | A>P | No |
ClinGen TOPMed |
|
|
CA391527087 rs1192867701 |
816 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA267560804 rs899101605 |
820 | V>A | No |
ClinGen TOPMed |
|
|
rs1036751397 CA267560796 |
821 | N>H | No |
ClinGen TOPMed |
|
|
rs1201121788 CA391526892 |
825 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1201121788 CA391526887 |
825 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391526824 rs1486699309 |
828 | R>C | No |
ClinGen TOPMed |
|
|
rs1205665999 CA391526816 |
828 | R>H | No |
ClinGen TOPMed |
|
|
CA391526802 rs1268017521 |
829 | A>G | No |
ClinGen TOPMed |
|
|
rs1290321081 CA391526785 |
830 | V>A | No |
ClinGen gnomAD |
|
|
rs1384333755 CA391526754 |
831 | P>H | No |
ClinGen gnomAD |
|
|
rs1490207293 CA391526759 |
831 | P>S | No |
ClinGen TOPMed |
|
|
rs761208780 CA7453392 |
832 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7453391 rs761208780 |
832 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391526731 rs1219640234 |
832 | G>R | No |
ClinGen gnomAD |
|
|
CA391526713 rs753289213 |
833 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753289213 CA7453390 |
833 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767872628 CA7453389 |
835 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA267560770 rs922089228 |
836 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391526618 rs1402636802 |
838 | A>T | No |
ClinGen TOPMed |
|
|
rs1304348241 CA391526547 |
840 | T>A | No |
ClinGen TOPMed |
|
|
CA391526543 rs924194650 |
840 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA267560726 rs924194650 |
840 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA267560721 rs866015672 |
842 | G>V | No |
ClinGen Ensembl |
|
|
rs1291030364 CA391526507 |
843 | A>T | No |
ClinGen TOPMed |
|
|
CA267560708 rs967037118 |
844 | A>V | No |
ClinGen TOPMed |
|
|
CA391526469 rs1177611569 |
845 | E>K | No |
ClinGen gnomAD |
|
|
CA391526425 rs1024393364 |
846 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1024393364 CA267560704 |
846 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1248618002 CA391526291 |
849 | Q>H | No |
ClinGen TOPMed |
|
|
CA267560699 rs992534164 |
849 | Q>L | No |
ClinGen TOPMed |
|
|
CA391526245 rs1439013903 |
851 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391526140 rs1349981289 |
853 | N>S | No |
ClinGen TOPMed |
|
|
CA391526109 rs1440754548 |
854 | G>R | No |
ClinGen TOPMed |
|
|
CA391526087 rs994651583 |
855 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA267560682 rs994651583 |
855 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1259071788 CA391526064 |
855 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391526031 rs1337372126 |
856 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1262067490 CA391525988 |
857 | A>V | No |
ClinGen gnomAD |
|
|
CA391525974 rs1323040481 |
859 | R>C | No |
ClinGen gnomAD |
|
|
CA391525949 rs1241504480 |
860 | D>Y | No |
ClinGen gnomAD |
|
|
CA267560669 rs1014813530 |
861 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391525893 rs1390104779 |
861 | G>V | No |
ClinGen gnomAD |
|
|
CA391525875 rs1408962373 |
862 | L>P | No |
ClinGen gnomAD |
|
|
CA391525862 rs1337751992 |
863 | E>* | No |
ClinGen gnomAD |
|
|
CA391525805 rs1427691184 |
864 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391525785 rs1242891075 |
865 | A>T | No |
ClinGen TOPMed |
|
|
CA391525733 rs1170425096 |
865 | A>V | No |
ClinGen gnomAD |
|
|
CA267560667 rs868846426 |
866 | D>N | No |
ClinGen gnomAD |
|
|
rs1180485750 CA391525694 |
867 | A>T | No |
ClinGen gnomAD |
|
|
rs763218341 CA7453382 |
871 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267560664 rs112313602 |
872 | A>T | No |
ClinGen Ensembl |
|
|
CA391525540 rs1261083816 |
872 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7453380 rs769954144 |
873 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748134214 CA7453379 |
873 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052234423 CA391525499 |
875 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1052234423 CA267560660 |
875 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1316310334 CA391525472 |
875 | N>K | No |
ClinGen gnomAD |
|
|
CA391525478 rs1385566753 |
875 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391525459 rs1452614773 |
876 | G>D | No |
ClinGen gnomAD |
|
|
rs1404349823 CA391525410 |
877 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA391525396 rs1320697810 |
878 | C>G | No |
ClinGen gnomAD |
|
|
rs1402024732 CA391525381 |
878 | C>W | No |
ClinGen gnomAD |
|
|
rs1385250235 CA391525352 |
880 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1157441346 CA391525349 |
880 | R>H | No |
ClinGen gnomAD |
|
|
CA391525339 rs1437241287 |
881 | G>D | No |
ClinGen gnomAD |
|
|
rs1184114043 CA391525319 |
882 | G>S | No |
ClinGen gnomAD |
|
|
rs1361182044 CA391525247 |
883 | P>A | No |
ClinGen TOPMed |
|
|
CA391525210 rs1444001871 |
884 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391525219 rs1444001871 |
884 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs900613773 CA267560653 |
885 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA267560651 rs900613773 |
885 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781208686 CA7453378 |
885 | P>S | No |
ClinGen ExAC |
|
|
CA391525163 rs1447752927 |
886 | V>L | No |
ClinGen gnomAD |
|
|
CA391525120 rs1399063038 |
887 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1361653799 CA391525083 |
889 | R>C | No |
ClinGen gnomAD |
|
|
rs1292670345 CA391525080 |
889 | R>H | No |
ClinGen gnomAD |
|
|
CA391525041 rs1381241118 |
890 | C>Y | No |
ClinGen gnomAD |
|
|
rs1431969377 CA391524937 |
892 | R>C | No |
ClinGen gnomAD |
|
|
rs1238612822 CA391524889 |
893 | E>A | No |
ClinGen TOPMed |
|
|
CA391524831 rs1184296773 |
894 | N>K | No |
ClinGen TOPMed |
|
|
CA267560629 rs746820823 |
896 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7453376 rs746820823 |
896 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780065924 CA7453375 |
896 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391524618 rs1423868317 |
900 | R>C | No |
ClinGen gnomAD |
|
|
CA391524595 rs1411568470 |
901 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1475601329 CA391524580 |
902 | E>* | No |
ClinGen gnomAD |
|
|
rs1444689743 CA391524505 |
902 | E>D | No |
ClinGen gnomAD |
|
|
rs1334550692 CA391524459 |
904 | E>K | No |
ClinGen TOPMed |
|
|
CA391524327 rs1566876704 |
906 | Y>* | No |
ClinGen Ensembl |
|
|
CA391524332 rs1344590142 |
906 | Y>C | No |
ClinGen TOPMed |
|
|
rs949707738 CA391524081 |
915 | L>V | No |
ClinGen TOPMed |
|
|
CA391524060 rs1215715986 |
916 | R>L | No |
ClinGen gnomAD |
|
|
CA267560604 rs992481696 |
916 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA391523868 rs1250982443 |
922 | R>H | No |
ClinGen gnomAD |
|
|
rs879575757 CA267560602 |
925 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1595547219 CA391523694 |
927 | P>L | No |
ClinGen Ensembl |
No associated diseases with Q8TE49
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 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. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| K63-linked polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 63 in the target protein. |
| thiol-dependent deubiquitinase | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| zinc ion binding | Binding to a zinc ion (Zn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of I-kappaB kinase/NF-kappaB signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein deubiquitination involved in ubiquitin-dependent protein catabolic process | The removal of one or more ubiquitin groups from a protein as part of a process of ubiquitin-dependent protein catabolism. |
| protein K11-linked deubiquitination | A protein deubiquitination process in which a K11-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 11 of the ubiquitin monomers, is removed from a protein. |
| protein K48-linked deubiquitination | A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6GQQ9 | OTUD7B | OTU domain-containing protein 7B | Homo sapiens (Human) | EV |
| P21580 | TNFAIP3 | Tumor necrosis factor alpha-induced protein 3 | Homo sapiens (Human) | SS |
| B2RUR8 | Otud7b | OTU domain-containing protein 7B | Mus musculus (Mouse) | SS |
| Q60769 | Tnfaip3 | Tumor necrosis factor alpha-induced protein 3 | Mus musculus (Mouse) | SS |
| Q8R554 | Otud7a | OTU domain-containing protein 7A | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSSVLPNPT | SAECWAALLH | DPMTLDMDAV | LSDFVRSTGA | EPGLARDLLE | GKNWDLTAAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SDYEQLRQVH | TANLPHVFNE | GRGPKQPERE | PQPGHKVERP | CLQRQDDIAQ | EKRLSRGISH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASSAIVSLAR | SHVASECNNE | QFPLEMPIYT | FQLPDLSVYS | EDFRSFIERD | LIEQATMVAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EQAGRLNWWS | TVCTSCKRLL | PLATTGDGNC | LLHAASLGMW | GFHDRDLVLR | KALYTMMRTG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AEREALKRRW | RWQQTQQNKE | EEWEREWTEL | LKLASSEPRT | HFSKNGGTGG | GVDNSEDPVY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESLEEFHVFV | LAHILRRPIV | VVADTMLRDS | GGEAFAPIPF | GGIYLPLEVP | PNRCHCSPLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAYDQAHFSA | LVSMEQRDQQ | REQAVIPLTD | SEHKLLPLHF | AVDPGKDWEW | GKDDNDNARL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AHLILSLEAK | LNLLHSYMNV | TWIRIPSETR | APLAQPESPT | ASAGEDVQSL | ADSLDSDRDS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VCSNSNSNNG | KNGKDKEKEK | QRKEKDKTRA | DSVANKLGSF | SKTLGIKLKK | NMGGLGGLVH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GKMGRANSAN | GKNGDSAERG | KEKKAKSRKG | SKEESGASAS | TSPSEKTTPS | PTDKAAGASP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AEKGGGPRGD | AWKYSTDVKL | SLNILRAAMQ | GERKFIFAGL | LLTSHRHQFH | EEMIGYYLTS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AQERFSAEQE | QRRRDAATAA | AAAAAAAAAT | AKRPPRRPET | EGVPVPERAS | PGPPTQLVLK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LKERPSPGPA | AGRAARAAAG | GTASPGGGAR | RASASGPVPG | RSPPAPARQS | VIHVQASGAR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DEACAPAVGA | LRPCATYPQQ | NRSLSSQSYS | PARAAALRTV | NTVESLARAV | PGALPGAAGT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AGAAEHKSQT | YTNGFGALRD | GLEFADADAP | TARSNGECGR | GGPGPVQRRC | QRENCAFYGR |
| 910 | 920 | ||||
| AETEHYCSYC | YREELRRRRE | ARGARP |