Q9Y305
Gene name |
ACOT9 (CGI-16) |
Protein name |
Acyl-coenzyme A thioesterase 9, mitochondrial |
Names |
Acyl-CoA thioesterase 9, Acyl-CoA thioester hydrolase 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23597 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y305
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y305-F1 | Predicted | AlphaFoldDB |
247 variants for Q9Y305
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1404424947 CA412523419 |
3 | R>L | No |
ClinGen TOPMed |
|
|
CA412523331 rs1189637599 |
11 | L>F | No |
ClinGen TOPMed |
|
|
rs1256837953 CA412523325 |
12 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10369800 rs538861399 |
13 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778461458 CA10369799 |
15 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA412523308 rs1158970276 |
15 | Q>P | No |
ClinGen TOPMed |
|
|
CA412523290 rs1283144799 |
18 | P>A | No |
ClinGen gnomAD |
|
|
CA326900381 rs867714025 |
18 | P>L | No |
ClinGen Ensembl |
|
|
CA412523280 rs1455392573 |
20 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 21 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412523252 rs1171915804 |
24 | Q>R | No |
ClinGen TOPMed |
|
|
rs900903489 CA326900379 |
25 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756755942 CA10369798 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753522285 CA10369797 |
27 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753522285 CA326900378 |
27 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338300052 CA412523236 |
27 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996269447 CA326900370 |
34 | I>N | No |
ClinGen TOPMed |
|
|
rs372732121 CA10369792 |
35 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279067875 CA412523165 |
37 | I>F | No |
ClinGen TOPMed |
|
|
rs1179693816 CA412523159 |
38 | H>D | No |
ClinGen gnomAD |
|
|
CA10369764 rs745706448 |
41 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774209507 CA10369763 |
42 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326895260 rs201594302 |
45 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs770734260 CA10369762 |
45 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412523015 rs1601820803 |
47 | I>L | No |
ClinGen Ensembl |
|
|
rs1258282542 CA412523010 |
47 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10369746 rs760955811 |
56 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA412522923 rs1480987235 |
58 | V>A | No |
ClinGen gnomAD |
|
|
CA10369745 rs368046594 |
60 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10369744 rs770810094 |
61 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10369743 rs35412966 |
63 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747602291 CA10369739 |
68 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750690372 CA10369738 |
74 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203987335 CA412522800 |
76 | D>N | No |
ClinGen gnomAD |
|
|
rs768158515 CA10369737 |
77 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780255334 CA10369735 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA412522742 rs758833744 |
84 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750959048 CA10369733 |
85 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1569197131 CA412522729 |
86 | S>T | No |
ClinGen Ensembl |
|
|
CA874052032 rs1397633494 |
87 | Y>* | No |
ClinGen TOPMed |
|
|
rs1200833894 CA412522722 |
87 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 95 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334167234 CA412522659 |
96 | S>N | No |
ClinGen gnomAD |
|
|
rs1334167234 CA412522661 |
96 | S>T | No |
ClinGen gnomAD |
|
|
rs1328443992 CA412522655 |
97 | E>Q | No |
ClinGen gnomAD |
|
|
rs34081355 CA10369731 |
99 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412522642 rs1470476076 |
99 | E>K | No |
ClinGen gnomAD |
|
|
rs753902242 CA10369730 |
101 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469714654 COSM1119363 CA412522617 |
102 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 103 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764265019 CA10369729 |
104 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1285226875 CA412522600 |
105 | L>V | No |
ClinGen TOPMed |
|
|
rs375503606 CA10369727 |
111 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412522529 rs1163742058 |
114 | G>R | No |
ClinGen gnomAD |
|
|
rs779423852 CA10369713 |
118 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA326894126 rs916955976 |
119 | D>N | No |
ClinGen TOPMed |
|
|
CA10369699 rs760288281 |
130 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs370320089 CA10369696 |
137 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370320089 COSM388018 CA10369697 |
137 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs774808141 CA10369695 |
139 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA412522341 rs1318969210 |
139 | M>L | No |
ClinGen TOPMed |
|
|
rs1269532183 CA412522337 |
139 | M>T | No |
ClinGen gnomAD |
|
|
CA412522325 rs1490868329 |
141 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 143 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753582234 CA10369693 |
144 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298170493 CA412522298 |
145 | V>A | No |
ClinGen gnomAD |
|
|
rs756594878 CA10369691 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA326932079 rs1052466974 |
149 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1363140150 CA412522273 |
150 | D>A | No |
ClinGen gnomAD |
|
|
rs1363140150 CA412522272 |
150 | D>G | No |
ClinGen gnomAD |
|
|
CA10369689 rs781165058 |
150 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10369688 rs755148226 |
151 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10369681 rs775024112 |
154 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1225854366 CA412522218 |
156 | K>E | No |
ClinGen gnomAD |
|
|
rs767157676 CA412522198 |
158 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10369680 rs767157676 |
158 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412522162 rs1299968848 |
163 | Q>R | No |
ClinGen gnomAD |
|
|
CA412522148 rs1391472375 |
165 | I>V | No |
ClinGen gnomAD |
|
|
CA10369678 rs774215042 |
168 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA412522115 rs1464825575 |
169 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs372565091 CA10369677 |
170 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412522076 rs1377012657 COSM252319 |
175 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs770460708 CA326931907 |
178 | S>F | No |
ClinGen Ensembl |
|
|
rs1176976482 CA412522020 |
183 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141129259 CA10369672 |
185 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767053132 CA10369673 |
185 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10369651 rs148179443 |
189 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1487177391 CA412521945 |
191 | D>E | No |
ClinGen gnomAD |
|
|
rs1180937597 CA412521941 |
192 | E>* | No |
ClinGen TOPMed |
|
|
CA10369650 rs186269629 |
193 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10369649 rs746100629 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs376691316 CA10369647 |
198 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165911729 CA412521868 |
203 | M>V | No |
ClinGen TOPMed |
|
|
rs1018918932 CA326928991 |
205 | A>P | No |
ClinGen gnomAD |
|
|
rs1339630137 CA412521849 |
206 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA326928984 rs888996533 |
209 | E>K | No |
ClinGen Ensembl |
|
|
rs752666995 CA10369646 |
211 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419646911 CA412521811 |
211 | K>T | No |
ClinGen TOPMed |
|
|
CA412521807 rs1473598181 |
212 | G>R | No |
ClinGen gnomAD |
|
|
rs769087648 CA412521783 |
213 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10369636 rs769087648 |
213 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA326927236 rs887299794 |
214 | A>V | No |
ClinGen Ensembl |
|
|
rs761203603 CA10369635 |
218 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10369634 rs371687278 |
218 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772093546 CA10369633 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10369632 rs746072190 |
225 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412521653 rs1272425042 |
229 | L>R | No |
ClinGen gnomAD |
|
|
rs779061907 CA10369630 |
231 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771196737 CA10369629 |
232 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1330240709 CA412521626 |
233 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 234 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412521599 rs1170493568 |
235 | L>F | No |
ClinGen gnomAD |
|
|
CA10369613 rs377512509 |
236 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759475709 CA10369612 |
237 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA412521581 rs1477424365 |
238 | G>E | No |
ClinGen gnomAD |
|
|
rs1233044460 CA412521560 |
241 | I>T | No |
ClinGen gnomAD |
|
|
rs771016382 CA10369610 |
242 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10369608 rs200394258 |
245 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412521531 rs1204079022 |
246 | T>A | No |
ClinGen gnomAD |
|
|
CA10369607 COSM457273 rs201643422 |
246 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs977020326 CA326926842 |
247 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 250 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217499273 CA412521505 |
250 | K>R | No |
ClinGen gnomAD |
|
|
CA326926839 rs965586685 |
252 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746934885 CA10369606 |
254 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs139220036 CA10369604 |
255 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375028862 CA412521442 |
259 | T>I | No |
ClinGen gnomAD |
|
|
rs1453839883 CA412521433 |
261 | I>V | No |
ClinGen gnomAD |
|
|
rs1167627113 CA412521427 |
262 | H>Y | No |
ClinGen TOPMed |
|
| rs763233076 | 272 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412521354 rs1174597443 |
272 | K>E | No |
ClinGen gnomAD |
|
|
rs763233076 CA10369592 |
272 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293605231 CA412521325 |
274 | I>T | No |
ClinGen TOPMed |
|
|
CA412521330 rs1232484345 |
274 | I>V | No |
ClinGen TOPMed |
|
|
rs181259615 COSM1119359 CA10369589 |
277 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs146707213 CA10369590 |
277 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199997116 CA10369588 |
279 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10369587 rs775363617 |
279 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601802648 TCGA novel CA412521260 |
285 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA412521251 rs1411351125 |
286 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412521252 rs1411351125 |
286 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771866596 CA412521254 |
286 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10369586 rs771866596 |
286 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745841905 CA10369585 |
289 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778266632 CA10369584 |
291 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA10369583 rs770469845 |
294 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA10369582 rs376686410 |
296 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412521175 rs1437997685 |
297 | E>K | No |
ClinGen gnomAD |
|
|
rs1487359975 CA412521153 |
300 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA412521141 rs1285459105 |
301 | P>L | No |
ClinGen gnomAD |
|
|
rs1006552919 CA326926517 |
302 | Q>* | No |
ClinGen gnomAD |
|
|
CA412521137 rs1347718298 |
302 | Q>R | No |
ClinGen gnomAD |
|
|
CA412521121 rs56378612 |
303 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10369568 rs56378612 |
303 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774413488 CA10369566 |
304 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770414891 CA10369565 |
304 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_062668 | 305 | N>H | a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1260439845 CA412521088 |
308 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748728551 CA10369564 |
308 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10369563 rs777295122 |
309 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs866345123 CA326926445 |
312 | G>C | No |
ClinGen Ensembl |
|
|
rs1388014459 CA412521054 |
313 | G>D | No |
ClinGen gnomAD |
|
|
rs1393408320 CA412521056 |
313 | G>S | No |
ClinGen TOPMed |
|
|
CA412521033 rs1434177050 |
316 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 317 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10369562 rs756321106 |
319 | A>D | No |
ClinGen ExAC |
|
|
CA412521000 rs1442544837 |
320 | Y>* | No |
ClinGen gnomAD |
|
|
rs769386063 CA10369560 |
323 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs747881458 CA10369559 |
323 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266923738 CA412520979 |
324 | W>G | No |
ClinGen gnomAD |
|
|
rs1198932801 CA412520968 |
325 | A>G | No |
ClinGen gnomAD |
|
|
CA412520966 rs1408022107 |
326 | T>A | No |
ClinGen TOPMed |
|
|
CA412520962 rs1327893930 |
326 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 331 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412520910 rs1279995181 |
332 | G>S | No |
ClinGen gnomAD |
|
|
CA10369549 rs754131492 |
333 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767212027 CA10369548 |
334 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA10369547 rs774135140 |
334 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs774135140 CA10369546 |
334 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10369544 rs184948673 |
335 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770815402 CA10369545 |
335 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769331024 CA10369542 |
338 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs747749361 CA10369541 |
341 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768203608 CA10369539 |
343 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA10369540 rs768203608 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400208304 CA412520844 |
344 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412520825 rs1318617883 |
346 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10369538 rs747334721 |
351 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412520765 rs1291748536 |
355 | L>F | No |
ClinGen TOPMed |
|
|
rs112579683 CA326926262 |
356 | F>L | No |
ClinGen Ensembl |
|
|
rs981542197 CA326926250 |
359 | S>L | No |
ClinGen Ensembl |
|
|
rs781695729 CA10369536 |
360 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1007388568 CA326926182 |
361 | V>I | No |
ClinGen Ensembl |
|
|
CA412520690 rs1359620323 |
365 | Q>E | No |
ClinGen gnomAD |
|
|
CA10369523 rs773196927 |
368 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1432429086 CA412520645 |
371 | V>I | No |
ClinGen TOPMed |
|
|
rs761324862 CA412520623 |
374 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA10369521 rs761324862 |
374 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10369520 rs776012511 |
375 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326926137 rs1022030175 |
378 | A>V | No |
ClinGen Ensembl |
|
|
rs147682207 CA10369519 |
379 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA326926118 rs765970167 |
381 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 384 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988066103 CA326926115 |
385 | H>R | No |
ClinGen TOPMed |
|
|
CA10369517 rs763824834 |
386 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368644186 CA10369516 |
386 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10369514 rs779621905 |
389 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs140445911 CA10369513 |
393 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10369511 rs777736551 |
394 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777736551 CA10369512 |
394 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052010652 CA326926078 |
397 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756334925 CA10369510 |
399 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 405 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10369508 rs766154649 |
408 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761691139 CA326925702 |
412 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761691139 CA10369504 |
412 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412520331 rs1255429952 |
415 | Y>* | No |
ClinGen TOPMed |
|
|
CA412520305 rs1276318446 |
419 | Q>R | No |
ClinGen gnomAD |
|
|
rs13497 CA326925686 |
420 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13497 CA10369502 |
420 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13497 CA10369501 |
420 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10369503 rs776162907 |
420 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10369499 rs774409265 |
423 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 425 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326925673 rs201105808 |
426 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1158935743 CA412520262 |
426 | S>R | No |
ClinGen TOPMed |
|
|
CA10369498 rs200042097 |
429 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774584941 CA10369497 |
430 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA412520201 rs1478081237 |
435 | Y>H | No |
ClinGen gnomAD |
|
|
rs1402145115 CA412520193 |
436 | L>F | No |
ClinGen TOPMed |
|
|
CA412520189 rs1196267982 |
437 | V>L | No |
ClinGen gnomAD |
|
|
CA412520183 rs1450745691 |
438 | E>K | No |
ClinGen gnomAD |
|
|
rs749809021 CA10369495 |
439 | P>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y305
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetyl-CoA hydrolase activity | Catalysis of the reaction: acetyl-CoA + H(2)O = acetate + CoA + H(+). |
| acyl-CoA hydrolase activity | Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate. |
| carboxylic ester hydrolase activity | Catalysis of the hydrolysis of a carboxylic ester bond. |
| palmitoyl-CoA hydrolase activity | Catalysis of the reaction: palmitoyl-CoA + H2O = CoA + palmitate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| acyl-CoA metabolic process | The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX2 | ACOT9 | Acyl-coenzyme A thioesterase 9, mitochondrial | Bos taurus (Bovine) | PR |
| Q8WYK0 | ACOT12 | Acetyl-coenzyme A thioesterase | Homo sapiens (Human) | PR |
| O00154 | ACOT7 | Cytosolic acyl coenzyme A thioester hydrolase | Homo sapiens (Human) | PR |
| Q9DBK0 | Acot12 | Acetyl-coenzyme A thioesterase | Mus musculus (Mouse) | PR |
| Q91V12 | Acot7 | Cytosolic acyl coenzyme A thioester hydrolase | Mus musculus (Mouse) | PR |
| Q8VHQ9 | Acot11 | Acyl-coenzyme A thioesterase 11 | Mus musculus (Mouse) | PR |
| Q32MW3 | Acot10 | Acyl-coenzyme A thioesterase 10, mitochondrial | Mus musculus (Mouse) | PR |
| Q9R0X4 | Acot9 | Acyl-coenzyme A thioesterase 9, mitochondrial | Mus musculus (Mouse) | PR |
| Q64559 | Acot7 | Cytosolic acyl coenzyme A thioester hydrolase | Rattus norvegicus (Rat) | PR |
| Q99NB7 | Acot12 | Acetyl-coenzyme A thioesterase | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRAALRLCA | LGKGQLTPGR | GLTQGPQNPK | KQGIFHIHEV | RDKLREIVGA | STNWRDHVKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MEERKLLHSF | LAKSQDGLPP | RRMKDSYIEV | LLPLGSEPEL | REKYLTVQNT | VRFGRILEDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DSLGVLICYM | HNKIHSAKMS | PLSIVTALVD | KIDMCKKSLS | PEQDIKFSGH | VSWVGKTSME |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKMQMFQLHG | DEFCPVLDAT | FVMVARDSEN | KGPAFVNPLI | PESPEEEELF | RQGELNKGRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IAFSSTSLLK | MAPSAEERTT | IHEMFLSTLD | PKTISFRSRV | LPSNAVWMEN | SKLKSLEICH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PQERNIFNRI | FGGFLMRKAY | ELAWATACSF | GGSRPFVVAV | DDIMFQKPVE | VGSLLFLSSQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VCFTQNNYIQ | VRVHSEVASL | QEKQHTTTNV | FHFTFMSEKE | VPLVFPKTYG | ESMLYLDGQR |
| 430 | |||||
| HFNSMSGPAT | LRKDYLVEP |