Q7Z6K3
Gene name |
PTAR1 |
Protein name |
Protein prenyltransferase alpha subunit repeat-containing protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:375743 |
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
262 variants for Q7Z6K3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA373636213 rs749422932 |
3 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5075637 rs749422932 |
3 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA373636207 rs1398642473 |
4 | T>S | No |
ClinGen TOPMed |
|
|
CA373636202 rs1354997966 |
5 | S>G | No |
ClinGen gnomAD |
|
|
CA194027380 rs866087896 |
6 | E>* | No |
ClinGen gnomAD |
|
|
rs868784855 CA194027379 |
6 | E>D | No |
ClinGen gnomAD |
|
|
CA373636195 rs866087896 |
6 | E>K | No |
ClinGen gnomAD |
|
|
CA373636181 rs1334392093 |
8 | V>M | No |
ClinGen gnomAD |
|
|
CA373636171 rs755835716 |
9 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1462781 CA5075635 rs755835716 COSM1462782 |
9 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1160180644 CA373636170 |
10 | V>M | No |
ClinGen gnomAD |
|
|
CA5075633 rs781265092 |
12 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA373636155 rs781265092 |
12 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs866761293 CA194027378 |
13 | Q>* | No |
ClinGen Ensembl |
|
|
rs866225196 CA194027377 |
14 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188752382 CA373636101 |
21 | N>D | No |
ClinGen gnomAD |
|
|
CA373636087 rs1488054084 |
23 | F>L | No |
ClinGen gnomAD |
|
|
rs765935335 CA5075630 |
24 | R>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 25 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219206150 CA373636063 |
26 | N>S | No |
ClinGen gnomAD |
|
|
CA373636040 rs1447985741 |
29 | I>R | No |
ClinGen gnomAD |
|
|
CA5075609 rs750005566 |
30 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075610 rs200966061 |
30 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5075608 rs764792126 |
33 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA373635599 rs1211880571 |
35 | I>M | No |
ClinGen gnomAD |
|
|
CA373635596 rs1348156988 |
36 | P>S | No |
ClinGen gnomAD |
|
|
CA373635591 rs1274137236 |
37 | C>R | No |
ClinGen TOPMed |
|
|
CA373635587 rs1284968239 |
37 | C>Y | No |
ClinGen gnomAD |
|
|
rs753502633 CA5075606 |
38 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5075607 rs753502633 |
38 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA194026355 rs1031411314 |
41 | R>G | No |
ClinGen TOPMed |
|
|
CA373635564 rs1219832202 |
41 | R>K | No |
ClinGen TOPMed |
|
|
CA5075605 rs767821443 |
43 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307664969 CA373635544 |
44 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5075604 rs375276838 |
45 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075601 rs762931672 |
49 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1588484459 CA373635506 |
50 | V>A | No |
ClinGen Ensembl |
|
|
rs377658803 CA5075600 |
52 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5075598 rs748348019 |
55 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075597 rs777020228 |
57 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1588484403 CA373635416 |
63 | F>Y | No |
ClinGen Ensembl |
|
|
CA5075596 rs768537275 |
64 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1411412423 CA373635394 |
66 | P>L | No |
ClinGen TOPMed |
|
|
rs1422721890 CA373635397 |
66 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5075594 rs780123925 |
67 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5075593 rs758426304 |
70 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5075592 rs745796544 |
71 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373635343 rs1489175867 |
74 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756739674 CA5075590 |
76 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780037069 CA194026352 |
78 | R>G | No |
ClinGen gnomAD |
|
|
CA5075589 rs753449637 |
80 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387674446 CA373635275 |
84 | R>G | No |
ClinGen gnomAD |
|
|
rs771825384 CA5075587 |
84 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373635270 rs751981081 |
85 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075584 rs766794109 |
85 | D>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1222400 COSM1222399 CA5075585 rs751981081 |
85 | D>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373635238 rs1431273304 |
87 | L>F | No |
ClinGen gnomAD |
|
|
rs751634492 CA5075565 |
87 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5075564 rs766820950 |
88 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373635219 rs1251135772 |
90 | V>A | No |
ClinGen gnomAD |
|
|
CA373635216 rs1417494213 |
91 | T>A | No |
ClinGen TOPMed |
|
|
rs758664175 CA5075563 |
92 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758664175 CA194025431 |
92 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056097657 CA194025430 |
101 | F>L | No |
ClinGen TOPMed |
|
|
CA5075561 rs765616078 |
102 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1051428293 CA194025429 |
102 | T>I | No |
ClinGen Ensembl |
|
|
CA5075559 rs372892120 |
103 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5075558 rs764266539 |
104 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs374908460 CA5075555 |
107 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779481498 CA5075529 |
111 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1484274795 CA373634576 |
112 | I>F | No |
ClinGen gnomAD |
|
|
CA5075527 rs754385559 |
115 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1259912871 CA373634443 |
120 | I>V | No |
ClinGen gnomAD |
|
|
CA373634418 rs1588461544 |
121 | K>R | No |
ClinGen Ensembl |
|
|
CA373634407 rs1488198777 |
122 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210809696 CA373634356 |
124 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764319527 COSM1222393 CA5075526 COSM1222394 |
129 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373634278 rs764319527 |
129 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075525 rs139747326 |
130 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5075524 rs752994734 |
131 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5075523 rs767585777 |
133 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5075522 rs759387441 |
134 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773948512 CA5075521 |
136 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1320047477 CA373634137 COSM1314889 COSM1314890 |
137 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 138 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773108617 CA5075518 |
142 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755220044 CA5075503 |
144 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012272162 CA194024358 |
144 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766468864 CA194024357 |
150 | L>P | No |
ClinGen Ensembl |
|
|
rs199855837 CA194024356 |
152 | Q>E | No |
ClinGen Ensembl |
|
|
CA5075500 rs762701250 |
152 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5075501 rs114918767 |
152 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1214919960 CA373633565 |
157 | P>L | No |
ClinGen gnomAD |
|
|
rs761394172 CA5075497 |
159 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1215164133 CA373633541 |
161 | T>S | No |
ClinGen TOPMed |
|
|
CA373633527 rs1442933167 |
163 | G>E | No |
ClinGen gnomAD |
|
|
rs776073842 CA5075496 |
164 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448322257 CA373633499 |
167 | T>K | No |
ClinGen TOPMed |
|
|
CA5075494 rs746691112 |
169 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373633445 rs1172878576 |
170 | T>I | No |
ClinGen gnomAD |
|
|
rs775253849 CA5075493 |
170 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373633415 rs1410874153 |
172 | R>G | No |
ClinGen gnomAD |
|
|
rs999893482 CA194024355 |
172 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373633407 rs999893482 |
172 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771454601 CA5075492 |
173 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1414231185 CA373633363 |
174 | Q>H | No |
ClinGen TOPMed |
|
|
CA5075491 rs201222705 |
174 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399373232 CA373633358 |
175 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5075490 rs778437482 |
175 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373633333 rs1177435124 |
176 | L>R | No |
ClinGen gnomAD |
|
|
CA373633328 rs1318749440 |
177 | I>V | No |
ClinGen TOPMed |
|
|
rs750174858 CA194024354 |
181 | M>V | No |
ClinGen gnomAD |
|
|
CA194024353 rs892287947 |
183 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 185 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5075488 rs374712160 |
185 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236254242 CA373633114 |
187 | A>G | No |
ClinGen gnomAD |
|
|
CA5075487 rs781185503 |
189 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA194024352 rs1032245835 |
190 | R>K | No |
ClinGen Ensembl |
|
|
CA373633051 rs1223277732 |
191 | Y>C | No |
ClinGen gnomAD |
|
|
rs751815682 CA5075485 |
192 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5075484 rs766544044 |
193 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA194024351 rs1000736795 |
195 | Y>C | No |
ClinGen Ensembl |
|
|
CA373632898 rs1358825547 |
198 | W>L | No |
ClinGen gnomAD |
|
|
CA5075482 rs750155479 |
201 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253033908 CA373632840 |
201 | R>P | No |
ClinGen gnomAD |
|
|
rs1234795400 CA373632795 |
203 | W>* | No |
ClinGen TOPMed |
|
|
CA373632718 rs1158636594 |
209 | A>T | No |
ClinGen gnomAD |
|
|
CA5075480 rs370720259 |
209 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1588458469 CA373632676 |
212 | D>Y | No |
ClinGen Ensembl |
|
|
rs763553924 CA5075478 |
213 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1380920163 CA373634749 |
215 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1052318040 CA194023401 |
217 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1336154739 CA373634729 |
218 | D>G | No |
ClinGen gnomAD |
|
|
CA5075454 rs759319278 |
222 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774121222 CA5075453 |
223 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373634697 rs1190720168 |
223 | T>I | No |
ClinGen gnomAD |
|
|
rs1430136639 CA373634696 |
224 | K>E | No |
ClinGen gnomAD |
|
|
rs770092494 CA5075452 |
225 | H>R | No |
ClinGen ExAC |
|
|
rs1262330743 CA373634686 |
225 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373951055 CA5075450 |
228 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5075449 rs747512469 |
229 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1155148 CA5075448 rs747512469 COSM1109739 |
229 | M>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs539470866 CA5075447 |
230 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373634631 rs1251012808 |
231 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309697105 CA373634577 |
236 | G>E | No |
ClinGen gnomAD |
|
|
CA5075446 rs772119295 |
236 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5075444 rs370998856 |
240 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373634532 rs370998856 |
240 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369457011 CA373634529 |
240 | R>L | No |
ClinGen gnomAD |
|
|
rs1441056370 CA373634492 |
243 | L>F | No |
ClinGen gnomAD |
|
|
rs375747412 CA194023397 |
245 | K>E | No |
ClinGen ESP |
|
|
rs201080739 CA194023396 |
246 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201080739 CA5075442 |
246 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373634453 rs1458512497 |
247 | L>F | No |
ClinGen gnomAD |
|
|
rs777576782 CA5075441 |
248 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075440 rs756185228 |
248 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463330259 CA373634445 |
248 | I>T | No |
ClinGen gnomAD |
|
|
CA373634422 rs1172797757 |
250 | Q>R | No |
ClinGen gnomAD |
|
|
CA373634414 rs1452449013 |
251 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1254852539 CA373634410 |
251 | T>S | No |
ClinGen gnomAD |
|
|
rs947522177 CA194023395 |
252 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA373634397 rs1564128174 |
253 | I>L | No |
ClinGen Ensembl |
|
|
CA194023394 rs7024916 |
255 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 255 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194228527 CA373634342 |
258 | M>V | No |
ClinGen gnomAD |
|
|
rs752666910 CA5075439 |
259 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5075438 rs767182277 |
263 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA373634241 rs1336765312 |
266 | E>D | No |
ClinGen TOPMed |
|
|
CA373634235 rs1234058438 |
267 | P>R | No |
ClinGen gnomAD |
|
|
rs189917529 CA5075437 |
271 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373634198 rs1346303234 |
271 | P>S | No |
ClinGen gnomAD |
|
|
CA5075436 rs751198592 |
273 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766004332 CA5075435 |
274 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA373634145 rs1326288227 |
276 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1054169209 CA194023392 |
276 | E>D | No |
ClinGen TOPMed |
|
|
rs372609507 CA5075434 |
277 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777124790 CA5075433 |
278 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396791862 CA373634037 |
286 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768892342 CA5075432 |
286 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368902065 CA5075431 |
289 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373633999 rs1260191060 |
290 | H>R | No |
ClinGen TOPMed |
|
|
rs1469563802 CA373633993 |
291 | L>F | No |
ClinGen gnomAD |
|
|
CA5075430 rs145947133 |
294 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588446360 CA373633955 |
297 | E>K | No |
ClinGen Ensembl |
|
|
CA5075428 rs199760631 |
299 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927579644 CA194023389 |
300 | T>A | No |
ClinGen Ensembl |
|
|
CA194023388 rs866422575 |
301 | D>N | No |
ClinGen TOPMed |
|
|
rs779017088 CA5075426 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 304 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA194023387 rs942890623 |
304 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1212143245 CA373633896 |
305 | S>C | No |
ClinGen gnomAD |
|
|
rs1564128025 CA373633875 |
309 | H>N | No |
ClinGen Ensembl |
|
|
CA373633837 rs1350608718 |
314 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5075405 rs770899905 |
317 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201402192 COSM2778979 CA5075406 |
317 | R>W | large_intestine Variant assessed as Somatic; 5.273e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5075404 rs749571735 |
318 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373633406 rs1246586260 |
325 | H>Y | No |
ClinGen TOPMed |
|
|
CA373633396 rs1363772086 |
326 | L>V | No |
ClinGen gnomAD |
|
|
rs769740609 CA5075402 |
327 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388913173 CA373633087 |
328 | A>G | No |
ClinGen gnomAD |
|
|
rs943842876 CA194022855 |
328 | A>T | No |
ClinGen TOPMed |
|
|
CA373633079 rs1455004537 |
329 | G>D | No |
ClinGen TOPMed |
|
|
rs1438750520 CA373633071 |
330 | S>F | No |
ClinGen gnomAD |
|
|
rs762899001 CA5075387 |
330 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5075384 rs368529571 |
331 | Q>R | No |
ClinGen ESP ExAC |
|
|
rs926740762 CA194022845 |
335 | A>T | No |
ClinGen TOPMed |
|
|
CA5075383 rs200312685 |
336 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373633005 rs1564124491 |
337 | E>V | No |
ClinGen Ensembl |
|
|
rs1450233735 CA373632997 |
338 | V>I | No |
ClinGen gnomAD |
|
|
rs776629685 CA5075382 |
339 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1453363127 CA373632986 |
339 | D>N | No |
ClinGen TOPMed |
|
|
CA194022843 rs572042956 |
345 | S>G | No |
ClinGen Ensembl |
|
|
rs970869652 CA194022842 |
345 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5075380 rs768553717 |
351 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075379 rs747009679 |
352 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779817550 CA5075378 |
353 | T>N | No |
ClinGen ExAC |
|
|
rs955137099 CA194022841 |
354 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs745311824 CA5075376 |
355 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA373632819 rs1246931231 |
355 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA194022840 rs999400056 |
358 | R>Q | No |
ClinGen gnomAD |
|
|
CA5075375 rs567590269 |
358 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5075374 rs376519073 |
359 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958005994 CA194022838 |
360 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373632671 rs1294183236 |
369 | M>V | No |
ClinGen gnomAD |
|
|
CA373632625 rs1206135948 |
372 | R>K | No |
ClinGen TOPMed |
|
|
rs752136183 CA5075370 |
372 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352953361 CA373632609 |
374 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373632590 rs1331332218 |
376 | Q>K | No |
ClinGen gnomAD |
|
|
CA373632550 rs1430748957 |
379 | S>Y | No |
ClinGen gnomAD |
|
|
rs766744781 CA5075369 |
380 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075368 rs763102615 |
381 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA194022837 rs746920322 |
382 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5075367 rs746920322 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455963838 CA373632527 |
382 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs762177997 CA5075365 |
384 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373632501 rs1234214025 |
385 | E>K | No |
ClinGen gnomAD |
|
|
CA194022836 rs996683259 |
388 | R>M | No |
ClinGen TOPMed |
|
|
rs1485187701 CA373632440 |
391 | S>N | No |
ClinGen gnomAD |
|
|
rs1295397358 CA373632434 |
391 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760338614 CA5075362 |
395 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1040919144 CA194022835 |
395 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373632357 rs1588440129 |
398 | V>G | No |
ClinGen Ensembl |
|
|
rs1229951829 CA373632346 |
399 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1223257718 CA373632343 |
400 | L>M | No |
ClinGen gnomAD |
|
|
rs1223257718 CA373632344 |
400 | L>V | No |
ClinGen gnomAD |
|
|
rs202195968 CA5075360 |
401 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA194022834 rs1047228868 |
402 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200503740 CA5075358 |
403 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770404404 CA373632311 |
403 | Q>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373632306 rs1311429500 |
403 | Q>W | No |
ClinGen gnomAD |
No associated diseases with Q7Z6K3
4 regional properties for Q7Z6K3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Protein prenyltransferase, alpha subunit | 118 - 152 | IPR002088-1 |
| repeat | Protein prenyltransferase, alpha subunit | 176 - 210 | IPR002088-2 |
| repeat | Protein prenyltransferase, alpha subunit | 217 - 246 | IPR002088-3 |
| repeat | Protein prenyltransferase, alpha subunit | 291 - 325 | IPR002088-4 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein prenyltransferase activity | Catalysis of the covalent addition of an isoprenoid group such as a farnesyl or geranylgeranyl group via thioether linkages to a cysteine residue in a protein. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein prenylation | The covalent attachment of a prenyl group to a protein; geranyl, farnesyl, or geranylgeranyl groups may be added. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A3KPW7 | ptar1 | Protein prenyltransferase alpha subunit repeat-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAETSEEVAV | LVQRVVKDIT | NAFRRNPHID | EIGLIPCPEA | RYNRSPIVLV | ENKLGVESWC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VKFLLPYVHN | KLLLYRTRKQ | WLNRDELIDV | TCTLLLLNPD | FTTAWNVRKE | LILSGTLNPI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDLHLGKLAL | TKFPKSPETW | IHRRWVLQQL | IQETSLPSFV | TKGNLGTIPT | ERAQRLIQEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MEVCGEAAGR | YPSNYNAWSH | RIWVLQHLAK | LDVKILLDEL | SSTKHWASMH | VSDHSGFHYR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QFLLKSLISQ | TVIDSSVMEQ | NPLRSEPALV | PPKDEEAAVS | TEEPRINLPH | LLEEEVEFST |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLIDSYPGHE | TLWCHRRHIF | YLQHHLNAGS | QLSQAMEVDG | LNDSSKQGYS | QETKRLKRTP |
| 370 | 380 | 390 | 400 | ||
| VPDSLGLEME | HRFIDQVLST | CRNVEQARFA | SAYRKWLVTL | SQ |