Q9NRR6
PR
Gene name |
INPP5E |
Protein name |
Phosphatidylinositol polyphosphate 5-phosphatase type IV |
Names |
72 kDa inositol polyphosphate 5-phosphatase, Inositol polyphosphate-5-phosphatase E, Phosphatidylinositol 4,5-bisphosphate 5-phosphatase, Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56623 |
EC number |
3.1.3.36: Phosphoric monoester hydrolases |
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
2 structures for Q9NRR6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2XSW | X-ray | 190 A | A/B | 275-623 | PDB |
| AF-Q9NRR6-F1 | Predicted | AlphaFoldDB |
688 variants for Q9NRR6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1057306367 CA201649514 RCV001201990 |
4 | K>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1461388293 CA375572081 RCV001301098 |
6 | E>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1029781765 RCV001064854 CA201649469 |
12 | E>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1835935570 RCV001342986 |
12 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1835934684 RCV001245822 |
16 | Q>R | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002521916 RCV000351098 rs886042814 CA10604714 |
21 | R>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055180 rs1835933216 |
31 | P>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375571476 rs1018506310 RCV001338423 |
32 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002538476 CA201649436 rs1018506310 RCV001296973 |
32 | P>R | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001303420 rs1240005643 |
36 | A>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771207750 CA5337210 RCV001042503 |
36 | A>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886063713 CA10633271 RCV000322670 |
46 | E>K | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688284 rs778236228 CA5337205 |
66 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1202573963 CA375570624 RCV001348654 |
70 | I>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1835927935 RCV001234464 |
71 | A>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5337202 rs779841260 RCV002547413 RCV001342062 |
73 | R>W | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs894770887 RCV001342237 |
88 | D>Y | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748503945 RCV001345956 |
95 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046620 rs192637923 CA201649162 |
95 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1835922640 RCV001347032 |
101 | E>G | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202114 rs566641584 CA5337187 |
101 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001168668 rs187724945 CA5337185 RCV001487906 |
102 | D>Y | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs748786705 RCV001567500 CA5337184 RCV001205720 |
104 | E>V | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs755788855 RCV001327122 |
106 | R>W | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237383 CA5337179 rs757082393 |
108 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1295932398 RCV001242743 CA375569688 |
112 | S>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001348033 CA5337162 rs756921162 |
131 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300109 rs954591293 CA201648958 |
141 | P>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs565209005 RCV001776103 RCV001046737 RCV002552605 CA5337154 |
154 | P>S | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs78211353 CA5337153 RCV001556039 RCV001039160 RCV001168667 |
157 | G>W | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001853653 RCV000522108 rs779450345 RCV001073383 |
158 | G>missing | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239214 RCV001376431 rs779450345 |
158 | G>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375568732 rs1455781081 RCV001224555 |
158 | G>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375568545 rs1232108345 RCV001051425 |
169 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5337148 RCV001335947 rs778210239 RCV001053283 |
170 | N>K | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1835910612 RCV001309010 |
174 | R>I | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304282 CA5337143 rs376003129 |
178 | V>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001095327 CA5337139 rs754964359 RCV000381186 |
183 | P>S | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5337137 RCV000636940 rs372412898 |
185 | L>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA153151 rs61734181 RCV000861715 RCV000117262 RCV001711282 |
191 | P>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5337132 RCV001166953 rs200223403 RCV001343368 |
194 | P>A | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001236537 CA5337131 rs765819603 |
195 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5337129 RCV001344087 rs376043087 |
196 | A>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141286608 CA5337126 RCV002552606 RCV001046738 RCV003130119 |
198 | S>T | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA153173 RCV001727573 rs36064831 RCV001095326 RCV000205119 RCV000117274 VAR_047078 COSM3763773 |
201 | I>M | thyroid Joubert syndrome 1 Joubert syndrome large_intestine [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338298 CA375568211 rs1214397440 |
203 | S>C | Joubert syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001088844 RCV001335948 CA5337119 RCV002527750 rs143107549 RCV003151089 RCV000839869 |
208 | T>I | Joubert syndrome 1 Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs994157744 RCV001057435 |
216 | L>I | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202711 rs753519048 CA5337113 |
218 | D>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs374690864 CA5337112 RCV001316316 |
219 | Y>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046249 rs761485683 CA5337109 |
226 | L>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343664 rs1835897617 |
242 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749897420 RCV001243825 RCV002564073 CA5337093 |
247 | D>Y | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001247968 rs1346748926 |
250 | L>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862545 CA5337086 rs775406790 RCV001074226 |
252 | S>P | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368817877 RCV001313092 CA5337083 |
255 | S>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5337076 rs202197173 RCV001095324 RCV000368479 RCV000251292 |
264 | R>H | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1564436564 RCV001248089 |
270 | S>G | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1835795799 RCV001232247 |
278 | L>F | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242650 rs138068434 CA5337054 |
282 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5337051 VAR_077247 rs757936530 |
286 | G>R | JBTS1 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs759397125 RCV001861427 RCV000413564 CA5337048 |
291 | A>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753742613 RCV001062720 CA5337047 |
292 | R>G | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA209401 COSM753174 RCV002517084 RCV000194920 rs199873582 RCV001166425 RCV001044083 |
292 | R>H | lung Joubert syndrome 1 Joubert syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1835793809 RCV001052204 |
298 | N>Y | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA201644747 rs140222295 RCV001236258 |
302 | F>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_077248 CA277808 RCV000201762 RCV001844087 RCV001559945 rs746212325 |
303 | V>M | Joubert syndrome (jbts) Joubert syndrome JBTS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA277720 RCV000201594 rs754637179 |
315 | P>L | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1186646391 RCV002551387 CA375565189 RCV001037538 |
317 | S>G | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001231890 rs1835775767 |
318 | L>M | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200794870 CA5337006 RCV000866301 |
326 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs372066816 RCV001231716 CA5337004 |
329 | Y>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368235861 RCV001166424 CA5336995 |
337 | G>R | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001267700 rs780882740 RCV001775666 RCV000201735 CA277795 |
341 | G>S | Joubert syndrome (jbts) Joubert syndrome 1 Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375564606 rs1298311798 VAR_077249 |
345 | R>S | JBTS1 [UniProt] | Yes |
ClinGen gnomAD UniProt |
|
rs767855660 RCV001342877 CA5336965 |
346 | R>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001341624 rs775094328 CA5336960 |
351 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA279496 RCV000201710 rs863225198 |
355 | T>M | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001327708 rs1835755632 |
358 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs536052523 RCV001062748 CA5336953 |
364 | S>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001322869 rs1388522044 RCV001376298 CA375564382 |
365 | S>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000735369 RCV000636941 RCV001267543 RCV000022405 rs121918130 RCV001550720 RCV002265543 VAR_063012 CA259598 |
378 | R>C | Joubert syndrome and related disorders Joubert syndrome (jbts) Joubert syndrome 1 Joubert syndrome Inborn genetic diseases Clubfoot JBTS1; slightly reduced phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs758951947 RCV001862537 RCV001074128 RCV002240581 CA5336943 |
378 | R>H | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5336941 RCV000303395 rs200518324 RCV001408981 |
379 | R>K | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002229127 RCV000201546 CA279366 rs863225200 |
385 | C>Y | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA279447 RCV000201647 RCV001753604 rs863225201 |
388 | V>L | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001216241 rs771142015 CA5336891 |
392 | T>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047352 CA5336884 rs140705002 |
397 | I>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5336883 RCV001343710 RCV001169361 rs200033750 |
398 | V>M | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147285345 CA5336882 RCV001246039 |
400 | Q>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs863225202 RCV000201740 CA279520 |
417 | S>P | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232024 rs780525765 CA375563757 |
425 | F>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_077250 | 426 | T>N | JBTS1 [UniProt] | Yes | UniProt |
|
RCV003144102 VAR_063013 rs121918129 CA259597 RCV000201569 RCV001073387 RCV000022404 |
435 | R>Q | Joubert syndrome (jbts) Joubert syndrome 1 Joubert syndrome Retinal dystrophy JBTS1; severe reduction of phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001861469 RCV000416989 rs756789619 CA5336846 |
435 | R>W | Joubert syndrome and related disorders Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1167225330 CA375563543 RCV001207677 |
438 | D>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1835733198 RCV001197599 |
438 | D>H | Joubert syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051423 rs752497011 CA5336843 |
440 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001202800 rs1835732946 |
440 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000383155 RCV001095351 CA5336842 rs201043370 RCV002523760 |
442 | T>I | Joubert syndrome 1 Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5336840 RCV001230315 rs545195109 |
444 | Q>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA375563407 RCV001074572 rs1238625120 |
446 | L>P | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375563333 RCV000636939 rs1554793007 |
452 | V>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5336837 rs138150684 RCV001201612 RCV001335944 |
454 | D>N | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA201642155 RCV001344845 rs1042895970 |
459 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5336834 RCV001046481 rs770146958 |
459 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1461076 CA10633254 RCV000388805 rs200837258 RCV001865249 |
462 | A>T | Joubert syndrome 1 Joubert syndrome large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000985083 RCV001844251 rs199956627 RCV001338742 CA5336807 RCV002549635 COSM1210722 |
463 | A>V | Joubert syndrome (jbts) Joubert syndrome 1 Joubert syndrome large_intestine Inborn genetic diseases [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001238911 RCV001168596 RCV001376392 CA5336804 rs750331066 |
465 | V>I | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001198896 RCV001320437 RCV001376361 rs375909217 RCV001074129 CA5336803 |
468 | R>C | Joubert syndrome 1 Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_077251 | 474 | W>R | JBTS1; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs761179746 RCV001227172 CA5336795 |
481 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001168595 RCV001245821 rs768384414 CA5336790 |
485 | G>R | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs75939033 RCV001376303 RCV000420326 RCV001239212 CA5336788 |
486 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201688 rs757222534 CA277770 |
490 | D>Y | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001074693 rs769531967 RCV002482155 RCV001318105 CA201638976 |
502 | P>L | MORM syndrome Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5336768 RCV001246319 RCV001074130 rs370661476 |
503 | A>V | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Retinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001344886 rs1835712336 |
511 | I>H | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553738 rs750777734 CA5336761 RCV001051424 |
512 | R>Q | Joubert syndrome (jbts) Joubert syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_063014 rs374152018 CA5336762 |
512 | R>W | JBTS1; associated with W-515; severe reduction of phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001851510 rs13297509 VAR_063015 CA259595 RCV000022402 |
515 | R>W | Joubert syndrome (jbts) Joubert syndrome 1 Joubert syndrome JBTS1; associated with W-512; severe reduction of phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001166877 CA201638933 RCV001873546 rs13294000 |
516 | K>R | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771866500 CA5336724 VAR_081790 RCV000636942 |
522 | G>A | Joubert syndrome (jbts) Joubert syndrome JBTS1; reduced levels of protein in patients' fibroblasts; significant number of cells from patients have shorter or no cilia [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs746867724 RCV001775665 CA277743 RCV001376305 RCV000201636 |
526 | P>L | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_077252 | 534 | Y>D | JBTS1 [UniProt] | Yes | UniProt |
|
RCV001226706 RCV003132298 CA201638643 rs375126841 |
539 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1835687019 RCV001037093 |
545 | S>G | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001335945 rs778019120 RCV001037230 |
550 | R>missing | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865297 RCV000414446 CA5336705 rs75342839 |
551 | T>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
CA5336704 RCV001304783 rs761578787 |
555 | T>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1024279229 RCV001865518 RCV001797738 RCV000489080 CA201638375 |
557 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1417022247 RCV001074996 CA375561452 |
558 | V>F | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs863225197 RCV001775664 CA279423 RCV000201622 |
562 | S>G | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001265715 rs371960390 CA5336680 RCV001880095 |
563 | R>C | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000022403 VAR_063016 rs121918128 CA259596 |
563 | R>H | Joubert syndrome 1 JBTS1; slightly reduced phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001228300 rs140543689 CA5336679 RCV002563137 |
566 | G>D | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147967974 RCV000489191 RCV001095320 CA5336675 RCV000302693 |
577 | P>R | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA208042 RCV001206813 RCV000194100 rs559636009 |
578 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_063017 | 580 | K>E | JBTS1; severe reduction of phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [UniProt] | Yes | UniProt |
|
RCV003130124 RCV001050833 CA201638310 rs943471686 |
581 | T>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756888841 RCV001265717 CA5336671 RCV001206710 |
583 | D>N | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_077253 rs763992407 CA5336669 |
585 | R>C | JBTS1 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs752300607 CA277739 RCV001537183 RCV001376233 RCV000201629 |
585 | R>H | Joubert syndrome (jbts) Variant assessed as Somatic; 0.0 impact. Joubert syndrome [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775518991 RCV000201536 RCV001376306 |
587 | V>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1835669632 RCV001075656 |
587 | V>M | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564431175 CA375561168 RCV000785904 |
588 | Y>C | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001376301 CA5336668 RCV001376432 RCV000723153 RCV001862127 rs765327224 |
596 | R>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001206711 CA5336667 rs760790290 |
597 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064506 CA201638261 rs750836133 |
599 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1564430716 CA375560310 RCV000689290 |
615 | L>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375560303 RCV000697824 rs1564430711 |
616 | L>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588830568 RCV001038167 |
621 | R>L | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549199 RCV001376300 RCV001003058 rs1588830568 CA375560232 RCV002282421 VAR_076892 |
621 | R>Q | Joubert syndrome and related disorders Joubert syndrome Leber congenital amaurosis JBTS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001376304 RCV001809446 rs142759730 RCV000490169 CA5336632 RCV001223610 |
621 | R>W | MORM syndrome Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs754887212 CA5336631 RCV001324215 |
623 | S>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000000427 CA114238 rs121918127 |
627 | Q>* | MORM syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs863225199 RCV000201717 |
633 | Q>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763184652 RCV001197573 |
633 | Q>* | Joubert syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA336746 rs753001340 RCV000196839 |
640 | I>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1431917892 RCV000705026 |
641 | C>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_077254 | 641 | C>R | JBTS1 [UniProt] | Yes | UniProt |
|
CA375572209 rs1399373117 |
2 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA201649520 rs894617448 |
4 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1057306367 CA375572134 |
4 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA201649507 rs939098268 |
5 | A>E | No |
ClinGen Ensembl |
|
|
rs1164272461 CA375572116 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA375572053 rs1483340858 |
7 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA201649501 rs982814371 |
8 | L>V | No |
ClinGen TOPMed |
|
|
CA201649492 rs978149444 |
9 | R>P | No |
ClinGen Ensembl |
|
|
rs1195255984 CA375571991 |
10 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375571970 rs1225831267 |
10 | P>L | No |
ClinGen gnomAD |
|
|
CA375571975 rs1195255984 |
10 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1477926483 CA375571936 |
11 | S>F | No |
ClinGen gnomAD |
|
|
CA375571917 rs1332404967 |
12 | E>D | No |
ClinGen TOPMed |
|
|
rs1453183713 CA375571903 |
13 | P>L | No |
ClinGen gnomAD |
|
|
CA201649466 rs868539051 |
13 | P>S | No |
ClinGen Ensembl |
|
|
CA375571893 rs1290338516 |
14 | A>S | No |
ClinGen gnomAD |
|
|
CA375571899 rs1290338516 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs976856736 CA201649465 |
14 | A>V | No |
ClinGen TOPMed |
|
|
RCV001008865 rs1332623576 |
15 | P>missing | No |
ClinVar dbSNP |
|
|
CA5337211 rs776845366 |
17 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1295075168 CA375571784 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA201649454 rs556184252 |
22 | T>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs964607320 CA201649444 |
24 | Q>E | No |
ClinGen Ensembl |
|
|
CA375571614 rs1269899727 |
25 | G>V | No |
ClinGen gnomAD |
|
|
CA375571537 rs1333129757 |
28 | P>L | No |
ClinGen gnomAD |
|
|
CA375571498 rs1440765888 |
30 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1392971117 CA375571493 |
31 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 33 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375571459 rs1465742774 |
34 | Q>K | No |
ClinGen gnomAD |
|
|
CA375571442 rs1418350214 |
34 | Q>R | No |
ClinGen gnomAD |
|
|
CA375571426 rs1301355865 |
35 | R>C | No |
ClinGen gnomAD |
|
|
CA375571332 rs1200457166 |
39 | P>L | No |
ClinGen TOPMed |
|
|
CA201649425 rs1007653647 |
39 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1247021274 CA375571322 |
40 | P>S | No |
ClinGen gnomAD |
|
|
CA5337208 rs778156063 |
41 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA375571205 rs1200598959 |
44 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1438401428 CA375571121 |
47 | S>N | No |
ClinGen gnomAD |
|
|
CA201649414 rs1033200510 |
49 | A>T | No |
ClinGen TOPMed |
|
|
rs998603745 CA201649405 |
49 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1212975635 CA375571023 |
51 | A>P | No |
ClinGen gnomAD |
|
|
rs758796987 CA5337207 |
53 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375570951 rs1234082483 |
54 | T>I | No |
ClinGen gnomAD |
|
|
rs1405371293 CA375570958 |
54 | T>P | No |
ClinGen TOPMed |
|
|
rs1302116437 CA375570926 |
55 | P>A | No |
ClinGen TOPMed |
|
|
rs987360153 CA201649395 |
56 | A>P | No |
ClinGen Ensembl |
|
|
CA375570891 rs1343315812 |
57 | T>K | No |
ClinGen TOPMed |
|
|
CA375570852 rs1295677174 |
59 | S>N | No |
ClinGen TOPMed |
|
|
rs1476846287 CA375570758 |
62 | D>A | No |
ClinGen Ensembl |
|
|
CA375570711 rs1415787879 |
63 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1415787879 CA375570716 |
63 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375570737 rs1326309360 |
63 | P>S | No |
ClinGen gnomAD |
|
|
rs1172765521 CA375570701 |
64 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA375570698 rs1172765521 |
64 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425486904 CA375570703 |
64 | P>S | No |
ClinGen gnomAD |
|
|
CA201649379 rs993885630 |
65 | A>T | No |
ClinGen TOPMed |
|
|
CA375570629 rs1469583572 |
69 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA375570631 rs1469583572 |
69 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375570632 rs1426854196 |
69 | P>S | No |
ClinGen gnomAD |
|
|
rs1202573963 CA375570626 |
70 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1346089220 CA375570574 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA5337203 rs753362488 |
72 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1224781766 CA375570568 |
73 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755881439 CA201649351 |
74 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5337200 rs750213296 |
74 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5337201 rs755881439 |
74 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375570516 rs1564438094 |
76 | A>T | No |
ClinGen Ensembl |
|
|
rs1432492746 CA375570502 |
77 | R>K | No |
ClinGen gnomAD |
|
|
CA375570482 rs1480292800 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs761611233 CA5337198 |
79 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA375570463 rs1159056595 |
79 | R>L | No |
ClinGen gnomAD |
|
|
CA375570449 rs1418402713 |
80 | L>P | No |
ClinGen gnomAD |
|
|
CA375570462 rs1288895508 |
80 | L>V | No |
ClinGen TOPMed |
|
|
CA201649322 rs867913112 |
81 | E>* | No |
ClinGen Ensembl |
|
|
rs1564438050 CA375570415 |
81 | E>A | No |
ClinGen Ensembl |
|
|
rs751533117 CA5337197 |
82 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201649305 rs867173264 |
83 | A>D | No |
ClinGen TOPMed |
|
|
rs1016285166 CA201649314 |
83 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs867173264 CA375570361 |
83 | A>V | No |
ClinGen TOPMed |
|
|
CA5337195 rs759659346 |
84 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484828181 CA375570302 |
85 | S>C | No |
ClinGen gnomAD |
|
|
rs552270496 CA5337193 |
86 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA201649211 rs1057482033 |
88 | D>G | No |
ClinGen gnomAD |
|
|
CA201649214 rs894770887 |
88 | D>N | No |
ClinGen Ensembl |
|
|
rs1564437961 CA375570203 |
89 | K>E | No |
ClinGen Ensembl |
|
|
CA201649193 rs909863600 |
89 | K>R | No |
ClinGen TOPMed |
|
|
rs906259322 CA201649186 |
90 | G>A | No |
ClinGen Ensembl |
|
|
CA201649190 rs938893997 |
90 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1042115397 CA201649184 |
91 | W>G | No |
ClinGen TOPMed |
|
|
CA201649175 rs773522021 |
91 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs773522021 CA5337190 |
91 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1057520153 CA16603292 RCV000434879 |
93 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375570078 rs1485569904 |
94 | R>T | No |
ClinGen TOPMed |
|
|
rs1445170514 CA375570067 |
95 | R>C | No |
ClinGen TOPMed |
|
|
CA375570063 rs192637923 |
95 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA375569997 rs1564437852 |
98 | G>R | No |
ClinGen Ensembl |
|
|
rs1289208821 CA375569950 |
99 | S>T | No |
ClinGen gnomAD |
|
|
rs1452867080 CA375569942 |
100 | Q>* | No |
ClinGen gnomAD |
|
|
rs187724945 CA5337186 |
102 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405900741 CA375569843 |
104 | E>Q | No |
ClinGen gnomAD |
|
|
rs1164345207 CA375569824 |
105 | A>S | No |
ClinGen gnomAD |
|
|
CA5337183 rs779751422 |
105 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5337181 rs750127451 |
106 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA375569810 rs750127451 |
106 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5337178 rs562484803 |
108 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1032671925 CA201649093 |
109 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5337176 rs762843928 |
110 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1314746769 CA375569707 |
111 | P>L | No |
ClinGen TOPMed |
|
|
CA5337174 rs766472975 |
111 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1295932398 CA375569687 |
112 | S>F | No |
ClinGen gnomAD |
|
|
CA375569666 rs1295096267 |
114 | G>D | No |
ClinGen gnomAD |
|
|
CA5337172 rs773436168 |
115 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1164283308 CA375569622 |
117 | Q>* | No |
ClinGen gnomAD |
|
|
rs1425875157 CA375569596 |
117 | Q>H | No |
ClinGen gnomAD |
|
|
CA375569619 rs1460001255 |
117 | Q>R | No |
ClinGen gnomAD |
|
|
rs1564437612 CA375569593 |
118 | S>G | No |
ClinGen Ensembl |
|
|
CA375569560 rs1564437596 |
119 | E>G | No |
ClinGen Ensembl |
|
|
rs1428164960 CA375569572 |
119 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 120 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375569519 rs1193322281 |
121 | P>S | No |
ClinGen gnomAD |
|
|
rs1211274207 CA375569486 |
122 | G>E | No |
ClinGen gnomAD |
|
|
rs1252990086 CA375569505 |
122 | G>R | No |
ClinGen gnomAD |
|
|
rs769176351 CA5337168 |
123 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5337169 rs774630007 |
123 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774630007 CA375569479 |
123 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA375569485 rs774630007 |
123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769176351 CA375569473 |
123 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375569469 rs1226181643 |
124 | P>A | No |
ClinGen gnomAD |
|
|
CA375569455 rs1305443439 |
124 | P>L | No |
ClinGen gnomAD |
|
|
rs749845422 CA5337167 |
125 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375569446 rs749845422 |
125 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779663196 CA5337166 |
126 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769446973 CA5337165 |
128 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA375569377 rs745450500 |
129 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5337164 rs745450500 |
129 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375569331 rs1398662716 |
131 | P>S | No |
ClinGen gnomAD |
|
|
CA375569320 rs1461641297 |
132 | C>Y | No |
ClinGen gnomAD |
|
|
CA5337161 rs372930430 |
134 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1455030345 CA375569256 |
136 | S>F | No |
ClinGen gnomAD |
|
|
rs1406791599 CA375569236 |
137 | L>F | No |
ClinGen TOPMed |
|
|
rs1192243024 CA375569206 |
138 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5337160 rs777466600 |
138 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA375569074 rs1479443394 |
144 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA375569072 rs1479443394 |
144 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA201648952 rs868636012 |
144 | R>L | No |
ClinGen TOPMed |
|
|
CA5337158 rs752649797 |
145 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA201648944 rs867935902 |
145 | G>V | No |
ClinGen Ensembl |
|
|
rs1564437356 RCV000722552 |
148 | S>missing | No |
ClinVar dbSNP |
|
|
rs1336319671 CA375568876 |
150 | E>D | No |
ClinGen gnomAD |
|
|
rs750566132 CA5337155 |
150 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1301004362 CA375568883 |
150 | E>K | No |
ClinGen gnomAD |
|
|
rs374675444 CA201648909 |
151 | R>S | No |
ClinGen ESP |
|
|
rs1307767005 CA375568830 |
153 | S>C | No |
ClinGen gnomAD |
|
|
rs1375169715 CA375568745 |
157 | G>E | No |
ClinGen gnomAD |
|
|
rs1375169715 CA375568743 |
157 | G>V | No |
ClinGen gnomAD |
|
|
rs1172203645 CA375568742 |
158 | G>C | No |
ClinGen gnomAD |
|
|
rs1364931238 CA375568703 |
159 | N>K | No |
ClinGen gnomAD |
|
|
CA375568686 rs774738007 |
160 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774738007 CA5337151 |
160 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375568647 rs1413495284 |
163 | G>V | No |
ClinGen gnomAD |
|
|
rs886041204 RCV000298972 |
164 | V>missing | No |
ClinVar dbSNP |
|
|
rs1257673510 CA375568635 CA375568631 |
164 | V>L | No |
ClinGen gnomAD |
|
|
rs1277886267 CA375568617 |
165 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1012957991 CA201648870 |
165 | A>T | No |
ClinGen gnomAD |
|
|
rs1277886267 CA375568615 |
165 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1218581500 CA375568594 |
167 | S>G | No |
ClinGen gnomAD |
|
|
CA5337150 rs764388194 |
167 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375568566 rs1588839744 |
168 | S>F | No |
ClinGen Ensembl |
|
|
CA5337149 rs573292248 |
169 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770493776 CA5337147 |
172 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770493776 CA375568525 |
172 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776051206 CA5337145 |
173 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs929956067 CA201648819 |
174 | R>G | No |
ClinGen TOPMed |
|
|
rs903322690 CA201648791 |
177 | A>T | No |
ClinGen Ensembl |
|
|
rs1384336987 CA375568477 |
177 | A>V | No |
ClinGen gnomAD |
|
|
CA375568473 rs376003129 |
178 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452284039 CA375568461 |
179 | A>T | No |
ClinGen gnomAD |
|
|
CA375568444 rs1354350052 |
180 | G>V | No |
ClinGen TOPMed |
|
|
rs758203217 CA5337142 |
181 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs754964359 CA5337140 |
183 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375568374 rs1260795928 |
186 | P>L | No |
ClinGen gnomAD |
|
|
rs1203260394 CA375568368 |
187 | S>G | No |
ClinGen gnomAD |
|
|
rs575967532 CA201648736 |
187 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5337136 rs575967532 |
187 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375568335 rs1234036011 |
190 | P>R | No |
ClinGen gnomAD |
|
|
rs1275095998 CA375568342 |
190 | P>T | No |
ClinGen gnomAD |
|
|
rs1291740539 CA375568325 |
191 | P>S | No |
ClinGen gnomAD |
|
|
CA375568313 rs1327339908 |
192 | R>H | No |
ClinGen gnomAD |
|
|
rs1339773597 CA375568301 |
193 | P>L | No |
ClinGen TOPMed |
|
|
CA5337133 rs763409993 |
193 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200223403 CA375568300 |
194 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147268679 CA5337130 |
195 | P>R | No |
ClinGen ESP ExAC |
|
|
rs371950473 CA5337128 |
196 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375568263 rs141286608 |
198 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1588839537 CA375568226 |
202 | A>S | No |
ClinGen Ensembl |
|
|
CA375568216 rs1253615815 |
203 | S>P | No |
ClinGen gnomAD |
|
|
rs1287836359 CA375568203 |
204 | D>A | No |
ClinGen gnomAD |
|
|
rs1287836359 CA375568201 |
204 | D>G | No |
ClinGen gnomAD |
|
|
rs768542252 CA5337123 |
204 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA375568205 rs768542252 |
204 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA375568193 rs1216505048 |
205 | S>P | No |
ClinGen gnomAD |
|
|
CA375568154 rs1373822065 |
208 | T>A | No |
ClinGen gnomAD |
|
|
CA375568151 rs143107549 |
208 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5337116 rs753077558 |
210 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5337114 rs533861933 |
212 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375568100 rs1390460638 |
213 | D>A | No |
ClinGen gnomAD |
|
|
CA375568102 rs1165929856 |
213 | D>Y | No |
ClinGen gnomAD |
|
|
CA201648505 rs1046935939 |
214 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA201648497 rs994157744 |
216 | L>V | No |
ClinGen TOPMed |
|
|
rs1423228553 CA375568067 |
217 | A>T | No |
ClinGen Ensembl |
|
|
rs753519048 CA375568057 |
218 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269505347 CA375568052 |
219 | Y>C | No |
ClinGen TOPMed |
|
|
CA201648487 rs1041567284 |
221 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA201648479 rs942793713 |
221 | L>P | No |
ClinGen TOPMed |
|
|
rs991472201 CA201648458 |
225 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5337107 rs1554794096 |
226 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 227 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547974643 CA201648434 |
227 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1281522733 CA375567986 |
228 | V>M | No |
ClinGen gnomAD |
|
|
CA5337105 rs768453555 |
229 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5337106 rs774085718 |
229 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375567972 rs1442380202 |
230 | A>T | No |
ClinGen gnomAD |
|
|
CA5337103 rs779854628 |
231 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769831459 CA5337102 |
232 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1172820622 CA375567936 |
233 | S>G | No |
ClinGen gnomAD |
|
|
rs568767788 CA5337100 |
233 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758650948 CA5337099 |
235 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1470515038 CA375567905 |
236 | P>A | No |
ClinGen gnomAD |
|
|
rs1457390044 CA375567884 |
237 | G>V | No |
ClinGen Ensembl |
|
|
rs760298042 CA5337095 |
238 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375567879 rs760298042 |
238 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375567862 rs1281458046 |
240 | R>Q | No |
ClinGen gnomAD |
|
|
CA201648378 rs1003093040 |
241 | S>N | No |
ClinGen Ensembl |
|
|
CA201648372 rs1053959890 |
242 | P>R | No |
ClinGen TOPMed |
|
|
rs1387485414 CA375567812 |
245 | C>S | No |
ClinGen TOPMed |
|
|
rs1349268574 CA375567796 |
246 | D>E | No |
ClinGen gnomAD |
|
|
rs968037766 CA201648322 |
247 | D>G | No |
ClinGen Ensembl |
|
|
rs749897420 CA5337092 |
247 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767038608 CA5337091 |
248 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs550485638 CA5337090 |
249 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5337089 rs550485638 |
249 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550485638 CA375567765 |
249 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375567745 rs201792737 |
251 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201792737 CA375567743 |
251 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5337087 rs201792737 |
251 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368053206 CA5337085 |
252 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375567735 rs368053206 |
252 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5337084 rs745845949 |
253 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA201648278 rs745845949 |
253 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368817877 CA375567714 |
255 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375567717 rs1258558365 |
255 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1446967849 CA375567692 |
257 | F>C | No |
ClinGen gnomAD |
|
|
rs772286826 CA5337082 |
257 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375567682 rs1234653576 |
258 | S>N | No |
ClinGen gnomAD |
|
|
rs1335068390 CA375567672 |
259 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5337080 rs779271682 |
261 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5337079 rs528585360 |
261 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375567636 rs1429900148 |
262 | P>R | No |
ClinGen gnomAD |
|
|
CA375567611 rs1365683490 |
264 | R>C | No |
ClinGen TOPMed |
|
|
CA375567614 rs1365683490 |
264 | R>S | No |
ClinGen TOPMed |
|
|
CA375567607 rs1158016779 |
265 | S>R | No |
ClinGen TOPMed |
|
|
CA5337075 rs750943687 |
267 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471019025 CA375567566 |
268 | V>L | No |
ClinGen TOPMed |
|
|
CA5337074 rs766948458 |
269 | R>H | No |
ClinGen ExAC |
|
|
CA375567531 rs1422311278 |
270 | S>I | No |
ClinGen gnomAD |
|
|
CA375567539 rs1564436564 |
270 | S>R | No |
ClinGen Ensembl |
|
|
rs1422051665 CA375567527 |
270 | S>R | No |
ClinGen gnomAD |
|
|
rs1337285403 CA375567520 |
271 | R>K | No |
ClinGen TOPMed |
|
|
CA375567519 rs1337285403 |
271 | R>T | No |
ClinGen TOPMed |
|
|
CA375566168 rs1399303625 |
273 | Y>S | No |
ClinGen TOPMed |
|
|
CA201644918 rs369890337 |
275 | E>A | No |
ClinGen Ensembl |
|
|
rs780226706 CA5337058 |
276 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1305185395 CA375566136 |
277 | S>R | No |
ClinGen TOPMed |
|
|
rs1175962503 CA375566108 |
280 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5337056 rs746298415 |
280 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375566085 rs1310994013 |
283 | A>T | No |
ClinGen TOPMed |
|
|
CA5337053 rs751040358 |
283 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5337050 rs752406011 |
287 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753742613 CA375565914 |
292 | R>C | Joubert syndrome (jbts) Variant assessed as Somatic; impact. [Ensembl, NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000722301 rs1241112128 CA375565899 |
293 | Y>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5337045 rs145264797 |
293 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375565897 rs1241112128 |
293 | Y>N | No |
ClinGen gnomAD |
|
|
CA201644776 rs1047244794 |
297 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs547445320 CA5337044 |
297 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5337041 rs763020300 |
299 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375565769 rs1401953159 |
300 | A>V | No |
ClinGen gnomAD |
|
|
CA5337039 rs746212325 CA375565716 |
303 | V>L | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1157831514 CA375565706 |
304 | A>T | No |
ClinGen gnomAD |
|
|
rs568204894 CA201644727 |
309 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568204894 CA5337038 |
309 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375565205 rs1169433090 |
314 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA201644016 rs957904755 |
319 | D>G | No |
ClinGen Ensembl |
|
|
CA375565169 rs1254993477 |
320 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5337010 rs779929155 |
321 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA375565151 rs1451261136 |
322 | L>M | No |
ClinGen gnomAD |
|
|
CA375565141 rs1288078141 |
322 | L>P | No |
ClinGen gnomAD |
|
|
CA375565128 rs1159216193 |
323 | L>F | No |
ClinGen Ensembl |
|
|
CA5337009 rs755969392 |
324 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226884263 CA375565099 |
325 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA201643994 rs897679157 |
327 | A>T | No |
ClinGen Ensembl |
|
|
CA5337005 rs201857820 |
328 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372066816 CA5337003 |
329 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761085367 CA5337002 |
330 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375564996 rs1369760762 |
330 | A>V | No |
ClinGen gnomAD |
|
|
rs1166437684 CA375564991 |
331 | Q>E | No |
ClinGen gnomAD |
|
|
CA5337001 rs555308253 |
331 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375564968 rs1588835111 |
332 | D>A | No |
ClinGen Ensembl |
|
|
rs151090087 CA5337000 |
333 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1245035123 CA375564924 |
335 | V>L | No |
ClinGen gnomAD |
|
|
rs768294500 CA5336997 |
336 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs142906644 CA5336993 |
339 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142906644 CA201643961 |
339 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1427394436 CA375564845 |
339 | Q>P | No |
ClinGen TOPMed |
|
|
CA201643940 rs188488264 |
342 | C>R | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 343 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442522957 CA375564793 |
343 | S>Y | No |
ClinGen gnomAD |
|
|
CA5336964 rs762071368 |
346 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA591184693 rs1463230156 |
348 | W>* | No |
ClinGen gnomAD |
|
|
CA375564570 rs1318575224 |
348 | W>R | No |
ClinGen gnomAD |
|
|
rs1588834445 CA375564543 |
350 | T>A | No |
ClinGen Ensembl |
|
|
CA375564532 rs1164521289 |
350 | T>I | No |
ClinGen gnomAD |
|
|
rs764667114 CA5336962 |
351 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5336961 rs775094328 |
351 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375564527 rs775094328 |
351 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375564521 rs1449354262 |
352 | L>P | No |
ClinGen gnomAD |
|
|
rs1588834402 CA375564482 |
356 | L>M | No |
ClinGen Ensembl |
|
|
rs1488606970 CA375564474 |
357 | G>V | No |
ClinGen gnomAD |
|
|
rs1218911255 CA375564469 |
358 | P>A | No |
ClinGen gnomAD |
|
|
rs1275048619 CA375564450 |
359 | H>Q | No |
ClinGen gnomAD |
|
|
CA201643214 rs536052523 |
364 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA201643210 rs930546779 |
366 | A>V | No |
ClinGen gnomAD |
|
|
CA375564354 rs1588834341 |
367 | A>G | No |
ClinGen Ensembl |
|
|
CA375564332 rs1388790286 |
369 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5336949 rs750574856 |
369 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388790286 CA375564326 |
369 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5336946 rs751934943 |
370 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs147531141 CA5336947 |
370 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375564308 rs1189137999 |
372 | Y>H | No |
ClinGen gnomAD |
|
|
rs971174374 CA201643156 |
373 | M>T | No |
ClinGen Ensembl |
|
|
rs753085035 CA201643165 |
373 | M>V | No |
ClinGen Ensembl |
|
|
COSM4152169 rs764577370 CA5336945 |
374 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA375564256 rs1204104676 |
375 | L>P | No |
ClinGen gnomAD |
|
|
CA5336944 rs763499800 |
377 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs973796605 CA201643148 |
377 | I>V | No |
ClinGen TOPMed |
|
|
CA5336942 rs758951947 |
378 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs121918130 CA375564233 |
378 | R>S | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1443547805 CA375564220 |
379 | R>S | No |
ClinGen TOPMed |
|
|
rs1588834268 CA375564210 |
380 | D>A | No |
ClinGen Ensembl |
|
|
rs770456201 CA5336940 |
380 | D>N | No |
ClinGen ExAC |
|
|
rs760349095 CA375564186 |
382 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs863225200 CA375564154 |
385 | C>S | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen gnomAD |
|
rs772941011 CA5336938 |
385 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs748011090 CA5336935 |
386 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs771866083 CA5336937 |
386 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA201642875 rs1004625981 |
388 | V>A | No |
ClinGen Ensembl |
|
|
CA5336892 rs201481645 |
391 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771142015 CA5336890 |
392 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201642841 RCV000722294 rs930286679 |
393 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs778132708 CA5336888 |
393 | V>L | No |
ClinGen ExAC |
|
|
rs528585797 CA5336886 |
396 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779363781 COSM1461077 CA5336885 |
396 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA375564052 rs140705002 |
397 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375564046 rs200033750 |
398 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327278801 CA375564040 |
399 | S>A | No |
ClinGen gnomAD |
|
|
RCV000722645 CA375564038 rs1564433154 |
399 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs147285345 CA375564035 |
400 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | I>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375564028 rs1314634788 |
401 | I>V | No |
ClinGen gnomAD |
|
|
rs1183135467 CA375564004 |
404 | K>R | No |
ClinGen TOPMed |
|
|
rs767126396 CA375564000 CA5336880 |
405 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5336879 rs761559591 |
405 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762734978 CA5336876 |
407 | L>S | No |
ClinGen ExAC |
|
|
CA375563976 rs1392354724 |
408 | G>D | No |
ClinGen gnomAD |
|
|
CA375563830 rs1248746719 |
419 | L>H | No |
ClinGen gnomAD |
|
|
CA375563802 rs1269816718 |
421 | I>V | No |
ClinGen gnomAD |
|
|
CA375563796 rs1356146470 |
422 | T>A | No |
ClinGen gnomAD |
|
|
rs769067899 CA5336869 |
422 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs769067899 COSM1674960 CA5336868 |
422 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA375563784 rs1410655635 |
423 | S>F | No |
ClinGen TOPMed |
|
|
CA375563685 rs1427552852 |
428 | G>D | No |
ClinGen gnomAD |
|
|
CA201642263 rs920086415 |
428 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1473151563 CA375563676 |
429 | D>N | No |
ClinGen gnomAD |
|
|
CA375563659 CA375563660 rs1203074338 |
430 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1278728778 CA375563646 |
431 | K>R | No |
ClinGen gnomAD |
|
|
CA375563634 rs1199320637 |
432 | V>M | No |
ClinGen gnomAD |
|
|
CA201642240 rs1022640639 |
433 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758022536 CA5336844 |
437 | L>P | No |
ClinGen ExAC |
|
|
rs777463231 CA5336845 |
437 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359606472 CA375563528 |
439 | Y>C | No |
ClinGen gnomAD |
|
|
CA5336841 rs371811859 |
443 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375563455 rs545195109 |
444 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175787391 CA375563423 |
445 | A>V | No |
ClinGen gnomAD |
|
|
CA375563378 rs1289505793 |
449 | P>T | No |
ClinGen gnomAD |
|
|
CA5336839 rs368627245 |
451 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000412911 rs1057517749 CA16042688 |
454 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763184550 CA5336836 |
455 | T>N | No |
ClinGen ExAC |
|
|
CA375563262 rs775772293 |
457 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5336835 rs775772293 |
457 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA201642127 rs868661165 |
463 | A>S | No |
ClinGen gnomAD |
|
|
CA375563177 rs868661165 |
463 | A>T | No |
ClinGen gnomAD |
|
|
rs1252233625 CA375562756 |
464 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5336802 rs112089228 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 469 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 472 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 472 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759781033 CA5336798 |
475 | F>L | No |
ClinGen ExAC |
|
|
CA5336797 rs777010049 |
475 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5336796 rs766669439 |
478 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA375562528 rs1300257345 |
479 | N>T | No |
ClinGen gnomAD |
|
|
CA375562515 rs1391336957 |
480 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5336794 rs773590570 |
481 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5336792 rs761386815 |
484 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs75939033 CA5336789 |
486 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367592401 CA5336787 |
486 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781083748 CA5336785 |
489 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375301475 CA375562382 |
490 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757222534 CA5336784 |
490 | D>N | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA5336782 rs371375165 |
491 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs374083402 CA5336781 |
493 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA201638993 rs766692376 |
494 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5336779 rs766692376 |
494 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538188644 CA5336777 |
496 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1165439901 CA375562229 |
501 | V>E | No |
ClinGen gnomAD |
|
|
CA5336771 rs370876407 CA201638982 |
501 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370876407 CA5336772 |
501 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769531967 CA5336770 |
502 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5336764 rs10870188 |
507 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375562140 rs1246194868 |
508 | D>N | No |
ClinGen gnomAD |
|
|
CA375562120 rs1373092301 |
509 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA201638954 rs1039047946 |
511 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs943352173 CA201638952 |
511 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA375562082 rs374152018 |
512 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750777734 CA375562076 |
512 | R>L | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375562066 rs1380133380 |
513 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1380133380 CA375562065 |
513 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 513 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375562029 rs1392649760 |
514 | M>I | No |
ClinGen gnomAD |
|
|
rs768016672 CA5336760 |
514 | M>V | No |
ClinGen ExAC |
|
|
rs752106876 CA5336759 |
515 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375562006 rs13294000 |
516 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375561920 rs1335027523 |
517 | G>E | No |
ClinGen gnomAD |
|
|
CA375561999 rs1336267333 |
517 | G>R | No |
ClinGen TOPMed |
|
|
CA5336726 rs760443315 COSM3748984 |
518 | S>A | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA375561915 rs1404412394 |
518 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5336725 rs773033007 |
521 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375561867 rs1184705015 |
523 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs748139386 CA5336723 |
525 | E>D | No |
ClinGen ExAC |
|
|
rs950409881 CA201638657 |
528 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5336718 rs781540345 |
531 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757592615 CA5336717 |
533 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747333701 CA5336716 |
534 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA375561697 rs1382261351 |
535 | K>R | No |
ClinGen gnomAD |
|
|
rs1187704522 CA375561668 |
538 | I>V | No |
ClinGen TOPMed |
|
|
CA375561647 rs1159924823 |
540 | K>R | No |
ClinGen TOPMed |
|
|
CA5336713 rs370618502 |
542 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450087861 CA375561626 |
542 | T>S | No |
ClinGen gnomAD |
|
|
rs753398503 CA5336711 CA375561617 |
543 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375561620 rs1452197900 |
543 | Y>C | No |
ClinGen gnomAD |
|
|
CA375561616 rs1161636527 |
544 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765986823 CA5336709 |
546 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA201638633 rs916409747 |
546 | T>I | No |
ClinGen Ensembl |
|
|
CA375561581 rs1165161907 |
549 | Q>E | No |
ClinGen gnomAD |
|
|
CA5336707 rs750136842 |
549 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310853922 CA375561572 |
550 | R>T | No |
ClinGen TOPMed |
|
|
CA375561559 rs1243230127 |
552 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992814593 CA201638363 |
557 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA375561451 rs1564431288 |
558 | V>D | No |
ClinGen Ensembl |
|
|
CA375561454 rs1417022247 |
558 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376839080 CA5336682 |
559 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs80111347 CA201638354 |
561 | R>K | No |
ClinGen Ensembl |
|
|
CA375561394 rs1306975739 |
564 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1205389223 CA375561400 |
564 | H>Y | No |
ClinGen gnomAD |
|
|
rs778536210 CA201638343 |
565 | K>E | No |
ClinGen Ensembl |
|
|
rs1212544429 CA375561387 |
565 | K>R | No |
ClinGen TOPMed |
|
|
CA5336678 rs779177166 |
567 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368296709 CA201638333 |
572 | S>G | No |
ClinGen Ensembl |
|
|
rs769104210 CA5336677 |
572 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs888610698 CA375561321 |
572 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA201638327 rs1025785482 |
574 | S>F | No |
ClinGen TOPMed |
|
|
CA375561295 rs1461088557 |
575 | S>F | No |
ClinGen gnomAD |
|
|
rs749810093 CA5336676 |
575 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352231723 CA375561275 |
577 | P>S | No |
ClinGen gnomAD |
|
|
CA375561266 rs1173901104 |
578 | G>E | No |
ClinGen gnomAD |
|
|
rs1473447000 CA375561235 |
581 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751316714 CA5336670 |
583 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA375561209 rs1270790458 |
584 | H>R | No |
ClinGen TOPMed |
|
|
CA375561165 rs1364697270 |
588 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA375561171 rs1308391041 |
588 | Y>H | No |
ClinGen gnomAD |
|
|
CA375561144 rs925789744 |
592 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375561141 rs1338062785 |
592 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1338062785 CA375561143 |
592 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA201638278 rs925789744 |
592 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1415857521 CA375561139 |
593 | V>L | No |
ClinGen TOPMed |
|
|
rs530758804 CA375561115 |
596 | R>S | No |
ClinGen gnomAD |
|
|
CA375561097 rs1191043398 |
599 | R>* | No |
ClinGen gnomAD |
|
|
rs750836133 CA5336665 |
599 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5336666 rs750836133 |
599 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417182226 CA375561080 |
601 | N>H | No |
ClinGen gnomAD |
|
|
rs749720435 CA5336664 |
601 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746372090 CA5336639 |
603 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 605 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776136400 CA5336638 |
606 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs375144690 CA5336636 |
607 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375560454 rs1423878411 |
607 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1423878411 CA375560451 |
607 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1251363265 CA375560438 |
608 | K>E | No |
ClinGen TOPMed |
|
|
CA5336635 rs777549235 |
609 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs199875003 CA5336633 |
610 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5336634 rs771894087 |
610 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA375560385 rs1564430726 |
610 | D>V | No |
ClinGen Ensembl |
|
|
rs1338117436 CA375560372 |
611 | R>T | No |
ClinGen TOPMed |
|
|
CA201637845 rs1056991920 |
613 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1477067987 CA375560293 |
617 | G>R | No |
ClinGen gnomAD |
|
|
CA375560276 rs1271443015 |
618 | I>S | No |
ClinGen gnomAD |
|
|
RCV000504513 rs1554792421 |
620 | R>missing | No |
ClinVar dbSNP |
|
|
CA201637827 rs760420960 |
625 | E>A | No |
ClinGen Ensembl |
|
|
CA5336630 rs148539728 |
625 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757272800 CA5336628 |
626 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA375560160 rs121918127 |
627 | Q>E | No |
ClinGen gnomAD |
|
|
rs763184652 CA5336625 |
633 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330792502 CA375560040 |
635 | Q>K | No |
ClinGen gnomAD |
|
|
CA375560037 rs1393260348 |
635 | Q>P | No |
ClinGen gnomAD |
|
|
rs1397261225 CA375559974 |
640 | I>V | No |
ClinGen gnomAD |
|
|
CA5336624 rs765521242 |
641 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1480311306 CA375559934 |
643 | V>I | No |
ClinGen gnomAD |
|
|
CA5336622 rs776988648 |
645 | S>G | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9NRR6
[MIM: 213300]: Joubert syndrome 1 (JBTS1)
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:19668216, ECO:0000269|PubMed:23034536, ECO:0000269|PubMed:23386033, ECO:0000269|PubMed:29052317}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610156]: Intellectual disability, truncal obesity, retinal dystrophy, and micropenis (MORMS)
An autosomal recessive disorder characterized by moderate intellectual disability, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. {ECO:0000269|PubMed:19668215}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:19668216, ECO:0000269|PubMed:23034536, ECO:0000269|PubMed:23386033, ECO:0000269|PubMed:29052317}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disorder characterized by moderate intellectual disability, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. {ECO:0000269|PubMed:19668215}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.36 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| inositol-polyphosphate 5-phosphatase activity | Catalysis of the reactions: D-myo-inositol 1,4,5-trisphosphate + H2O = myo-inositol 1,4-bisphosphate + phosphate, and 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate. |
| phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-4,5-bisphosphate + phosphate. |
| phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-3,4-bisphosphate + phosphate. |
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| inositol phosphate dephosphorylation | The process of removing a phosphate group from any mono- or polyphosphorylated inositol. |
| negative regulation of phosphatidylinositol 3-kinase signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| negative regulation of protein localization to cilium | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32019 | INPP5B | Type II inositol 1,4,5-trisphosphate 5-phosphatase | Homo sapiens (Human) | PR |
| Q92835 | INPP5D | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Homo sapiens (Human) | PR |
| Q6NVF0 | Ocrl | Inositol polyphosphate 5-phosphatase OCRL | Mus musculus (Mouse) | PR |
| Q8K337 | Inpp5b | Type II inositol 1,4,5-trisphosphate 5-phosphatase | Mus musculus (Mouse) | PR |
| Q9ES52 | Inpp5d | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Mus musculus (Mouse) | PR |
| P97573 | Inpp5d | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSKAENLRP | SEPAPQPPEG | RTLQGQLPGA | PPAQRAGSPP | DAPGSESPAL | ACSTPATPSG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDPPARAAPI | APRPPARPRL | ERALSLDDKG | WRRRRFRGSQ | EDLEARNGTS | PSRGSVQSEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PGAPAHSCSP | PCLSTSLQEI | PKSRGVLSSE | RGSPSSGGNP | LSGVASSSPN | LPHRDAAVAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSPRLPSLLP | PRPPPALSLD | IASDSLRTAN | KVDSDLADYK | LRAQPLLVRA | HSSLGPGRPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPLACDDCSL | RSAKSSFSLL | APIRSKDVRS | RSYLEGSLLA | SGALLGADEL | ARYFPDRNVA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LFVATWNMQG | QKELPPSLDE | FLLPAEADYA | QDLYVIGVQE | GCSDRREWET | RLQETLGPHY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLLSSAAHGV | LYMSLFIRRD | LIWFCSEVEC | STVTTRIVSQ | IKTKGALGIS | FTFFGTSFLF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ITSHFTSGDG | KVAERLLDYT | RTVQALVLPR | NVPDTNPYRS | SAADVTTRFD | EVFWFGDFNF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLSGGRTVVD | ALLCQGLVVD | VPALLQHDQL | IREMRKGSIF | KGFQEPDIHF | LPSYKFDIGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DTYDSTSKQR | TPSYTDRVLY | RSRHKGDICP | VSYSSCPGIK | TSDHRPVYGL | FRVKVRPGRD |
| 610 | 620 | 630 | 640 | ||
| NIPLAAGKFD | RELYLLGIKR | RISKEIQRQQ | ALQSQNSSTI | CSVS |