Q9H6L2
PR
Gene name |
TMEM231 (UNQ870/PRO1886) |
Protein name |
Transmembrane protein 231 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79583 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9H6L2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H6L2-F1 | Predicted | AlphaFoldDB |
333 variants for Q9H6L2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA130590 RCV000033041 RCV002513310 rs397514609 RCV001778672 |
4 | Y>* | Joubert syndrome 20 Joubert syndrome 20 (jbts20) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396810739 RCV000801217 rs1597051521 |
4 | Y>C | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000118628 rs3743601 RCV000989636 VAR_038543 RCV001511887 CA155714 |
6 | L>V | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8176304 rs201181950 RCV002528745 RCV000607297 RCV000878633 |
32 | A>V | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396810066 RCV001849440 rs1567441193 RCV000785887 |
40 | L>R | Meckel syndrome, type 11 Congenital anomaly of kidney and urinary tract [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803381 rs774528098 CA8176268 RCV002537159 |
59 | P>Q | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8176260 RCV001857867 rs372775075 RCV000513829 |
75 | P>S | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8176258 rs753709447 RCV000626296 RCV002529789 RCV001855329 |
78 | D>Y | Joubert syndrome 20 Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000515034 RCV001003228 CA8176255 rs376555896 RCV001865689 RCV003222011 |
81 | L>F | Ciliopathy Joubert syndrome 20 Joubert syndrome 20 (jbts20) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA283890891 RCV000989635 RCV002550614 rs541195377 |
82 | A>S | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs2080804101 RCV001329559 RCV003155395 |
83 | W>* | Joubert syndrome and related disorders Joubert syndrome 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8176252 rs774091057 RCV001301852 |
83 | W>G | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775968168 RCV001880115 RCV001266401 CA8176248 |
90 | N>S | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396807095 rs1597041976 RCV001003227 |
118 | L>V | Ciliopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1442638461 RCV002240644 RCV001382651 RCV003152616 RCV001266402 RCV001091760 CA396807047 RCV001335605 |
125 | P>A | Joubert syndrome and related disorders Joubert syndrome 20 Orofacial-digital syndrome III Inborn genetic diseases Joubert syndrome 20 (jbts20) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396807038 RCV001335606 rs1348700844 |
126 | L>P | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396807033 rs1202833405 RCV001205390 |
127 | Q>P | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1202833405 RCV001063714 |
127 | Q>R | Joubert syndrome 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297244 rs762041003 CA8176184 |
152 | V>M | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8176179 rs201036290 RCV000650608 |
157 | A>V | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823494 rs1597041448 CA396806774 |
165 | V>D | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775613602 RCV000723301 CA396806709 |
176 | L>V | Meckel syndrome, type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs543122080 RCV002532705 RCV000598629 CA8176153 |
192 | R>* | Variant assessed as Somatic; 0.0001394 impact. Joubert syndrome 20 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA130593 RCV000255979 rs200799769 RCV002513311 VAR_069044 RCV003155046 RCV000033042 RCV000543480 |
209 | D>N | Joubert syndrome and related disorders Joubert syndrome 20 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Joubert syndrome 20 (jbts20) JBTS20 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001351084 rs2080639506 |
218 | Q>R | Joubert syndrome 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054806 rs397514753 CA144704 RCV001781386 RCV000162154 |
222 | V>I | Meckel syndrome, type 11 Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8176066 rs199813223 RCV000691280 RCV001724141 |
237 | R>T | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8176061 RCV001703598 rs146210288 RCV000878632 |
240 | D>G | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000650604 RCV000387372 CA8176057 rs746025189 |
243 | F>L | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002065162 RCV003160029 RCV000593061 CA8176052 rs369010440 |
250 | R>Q | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804455 CA396804200 rs1295551040 |
252 | P>A | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001209090 rs758048238 CA8176024 |
259 | Q>H | Joubert syndrome 20 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
CA8176022 rs199605221 RCV000764076 RCV002519249 RCV000725878 |
264 | E>A | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002514091 CA204905 RCV000190811 rs797044954 |
264 | E>K | Joubert syndrome 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054807 VAR_070456 CA144706 rs397514754 |
272 | Q>P | Meckel syndrome, type 11 MKS11 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000968958 CA8175991 rs186119649 RCV001555042 |
309 | D>E | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001575455 CA8175990 rs182008317 RCV000968957 |
310 | L>V | Joubert syndrome 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396810772 rs903354438 |
2 | A>S | Joubert syndrome 20 (jbts20) [Ensembl] | No |
ClinGen gnomAD |
|
rs903354438 CA283891042 |
2 | A>T | Joubert syndrome 20 (jbts20) [Ensembl] | No |
ClinGen gnomAD |
|
rs778298588 CA8176322 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396810757 rs371709760 |
3 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753292136 CA8176320 |
3 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176321 rs371709760 |
3 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754078071 CA396810712 CA8176318 |
5 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396810726 rs1375069455 |
5 | E>Q | No |
ClinGen TOPMed |
|
|
CA396810708 rs3743601 |
6 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396810703 rs1597051478 |
6 | L>H | No |
ClinGen Ensembl |
|
|
rs1018553569 CA283891029 |
7 | F>L | No |
ClinGen TOPMed |
|
|
CA396810653 rs1597051449 |
8 | S>F | No |
ClinGen Ensembl |
|
|
rs760892967 CA8176317 |
8 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs760892967 CA396810662 |
8 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA283891026 rs868540150 |
9 | H>N | No |
ClinGen Ensembl |
|
|
rs768459969 CA8176315 |
10 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761239299 CA283891023 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8176316 rs761239299 |
10 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1442592577 CA396810593 |
11 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA396810595 rs1442592577 |
11 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8176313 rs775329522 |
13 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs769321473 CA8176312 |
14 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769321473 CA396810522 |
14 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396810499 rs1465828368 |
16 | R>C | No |
ClinGen gnomAD |
|
|
rs780891174 CA8176310 |
16 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780891174 CA396810498 |
16 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396810501 rs1465828368 |
16 | R>S | No |
ClinGen gnomAD |
|
|
CA396810492 rs1454829015 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1176848910 CA396810482 |
18 | G>E | No |
ClinGen gnomAD |
|
|
rs1461161326 CA396810463 |
20 | C>S | No |
ClinGen gnomAD |
|
|
rs1252547631 CA396810420 |
22 | K>* | No |
ClinGen gnomAD |
|
|
rs1196269014 CA396810417 |
22 | K>T | No |
ClinGen gnomAD |
|
|
CA396810395 rs1567441268 |
23 | A>D | No |
ClinGen Ensembl |
|
|
CA396810374 rs1277858041 |
24 | A>E | No |
ClinGen gnomAD |
|
|
rs1344067825 CA396810379 |
24 | A>T | No |
ClinGen gnomAD |
|
|
CA283891010 rs951457866 |
25 | L>M | No |
ClinGen TOPMed |
|
|
CA396810356 rs1348151466 |
25 | L>Q | No |
ClinGen gnomAD |
|
|
rs951457866 CA283891009 |
25 | L>V | No |
ClinGen TOPMed |
|
|
CA396810341 rs1307972399 |
26 | F>L | No |
ClinGen gnomAD |
|
|
CA396810336 rs1439369659 |
26 | F>Y | No |
ClinGen gnomAD |
|
|
CA396810275 rs1330183260 |
29 | L>P | No |
ClinGen gnomAD |
|
|
CA8176306 rs202215735 |
31 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202215735 CA8176305 |
31 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753795498 CA8176303 |
35 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs766491956 CA8176302 |
37 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283890990 rs753458985 |
38 | P>S | No |
ClinGen Ensembl |
|
|
COSM3378050 rs1012758156 CA283890987 |
40 | L>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA396810035 rs1197109885 |
42 | A>T | Joubert syndrome 20 (jbts20) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs368402335 CA8176299 |
44 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8176300 rs750674092 |
44 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176298 rs373488530 |
47 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1274517273 CA396809531 |
48 | F>Y | No |
ClinGen gnomAD |
|
|
rs1438919775 CA396809460 |
52 | R>P | No |
ClinGen gnomAD |
|
|
CA8176274 rs765968253 |
53 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA396809411 rs1326583153 |
55 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA283890934 rs865954032 |
56 | E>D | No |
ClinGen Ensembl |
|
|
rs771783989 CA8176272 |
56 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176271 rs771783989 |
56 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283890931 rs909886712 |
58 | Q>* | No |
ClinGen Ensembl |
|
|
CA396809390 rs1419912052 |
58 | Q>R | No |
ClinGen gnomAD |
|
|
rs1216546238 CA396809353 |
60 | T>S | No |
ClinGen TOPMed |
|
|
CA8176267 rs772102451 |
62 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396809336 rs772102451 |
62 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772102451 CA396809337 |
62 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207197689 CA396809291 |
64 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396809252 rs1216848356 |
66 | Q>H | No |
ClinGen Ensembl |
|
|
CA396809255 rs1265078711 |
66 | Q>R | No |
ClinGen Ensembl |
|
|
CA396809246 rs961777015 |
67 | V>L | No |
ClinGen TOPMed |
|
|
CA283890917 rs961777015 |
67 | V>M | No |
ClinGen TOPMed |
|
|
CA283890912 rs1014699129 |
69 | L>F | No |
ClinGen TOPMed |
|
|
CA396809216 rs1014699129 |
69 | L>I | No |
ClinGen TOPMed |
|
|
CA396809182 rs1426640475 |
71 | A>S | No |
ClinGen TOPMed |
|
|
CA396809176 rs1350319069 |
71 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1446099943 CA396809146 |
74 | G>R | No |
ClinGen gnomAD |
|
|
CA396809126 rs1333637540 |
75 | P>L | No |
ClinGen gnomAD |
|
|
rs1371669962 CA396809106 |
76 | E>G | No |
ClinGen TOPMed |
|
|
rs754854561 CA8176259 |
77 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA396809068 rs1219610835 |
78 | D>E | No |
ClinGen TOPMed |
|
|
rs1056038698 CA283890903 |
78 | D>G | No |
ClinGen TOPMed |
|
|
rs1396489443 CA396809057 |
79 | G>E | No |
ClinGen gnomAD |
|
|
CA8176257 rs766492182 |
79 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283890900 rs907144159 |
80 | F>L | No |
ClinGen TOPMed |
|
|
CA396809028 rs1179477881 |
81 | L>P | No |
ClinGen gnomAD |
|
|
rs541195377 CA396809018 |
82 | A>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA396809020 rs541195377 |
82 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs374031720 CA396808992 |
83 | W>* | No |
ClinGen ESP gnomAD |
|
|
CA283890886 rs374031720 |
83 | W>C | No |
ClinGen ESP gnomAD |
|
|
CA8176251 rs768880109 |
87 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA396808954 rs1309156955 |
88 | A>V | No |
ClinGen gnomAD |
|
|
rs1390136191 CA396808949 |
89 | F>S | No |
ClinGen TOPMed |
|
|
CA396808940 rs1331133302 |
90 | N>K | No |
ClinGen TOPMed |
|
|
CA396808935 rs1020049031 |
91 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396808936 rs1020049031 |
91 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA283890878 rs1020049031 |
91 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8176247 rs770216330 |
94 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313137862 CA396808917 |
94 | G>V | No |
ClinGen gnomAD |
|
|
rs1342931755 CA396808907 |
96 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1160648686 CA396808905 |
96 | R>H | No |
ClinGen gnomAD |
|
|
CA396808908 rs1342931755 |
96 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs571833403 CA396808901 |
97 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283890870 rs865990160 |
98 | R>C | No |
ClinGen TOPMed |
|
|
rs865990160 CA396808897 |
98 | R>S | No |
ClinGen TOPMed |
|
|
rs1476407731 CA396808888 |
99 | V>G | No |
ClinGen gnomAD |
|
|
rs771086104 CA8176243 |
99 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396808884 rs1567440857 |
100 | P>R | No |
ClinGen Ensembl |
|
|
rs1204782647 CA396808885 |
100 | P>S | No |
ClinGen gnomAD |
|
|
rs1216565807 CA396808873 |
102 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396808866 rs1204055300 |
103 | S>L | No |
ClinGen TOPMed |
|
|
CA396807189 rs1345129221 |
105 | R>G | No |
ClinGen gnomAD |
|
|
CA396807186 rs1278373690 |
105 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765567288 CA8176210 |
107 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567436833 CA396807162 |
108 | D>E | No |
ClinGen Ensembl |
|
|
rs759954710 CA8176209 |
108 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396807160 rs1428434047 |
109 | R>G | No |
ClinGen TOPMed |
|
|
CA396807134 rs1415195367 |
112 | D>A | No |
ClinGen gnomAD |
|
|
rs1384348548 CA396807127 |
113 | G>W | No |
ClinGen gnomAD |
|
|
CA8176207 rs766847365 |
114 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176206 rs761100273 |
115 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA283887557 rs971463265 |
115 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs773295270 CA396807103 CA8176205 |
117 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474773326 CA396807101 |
117 | M>T | No |
ClinGen gnomAD |
|
|
rs772077137 CA8176204 |
119 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396807085 rs1255071095 |
119 | H>R | No |
ClinGen gnomAD |
|
|
rs1445185707 CA396807089 |
119 | H>Y | No |
ClinGen gnomAD |
|
|
rs557695110 CA396807040 |
126 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396807021 rs1212446530 |
129 | T>A | No |
ClinGen TOPMed |
|
|
rs1597041923 CA396807017 |
129 | T>M | No |
ClinGen Ensembl |
|
|
CA396807007 rs1231848492 |
131 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1567436773 CA396807000 |
132 | V>I | No |
ClinGen Ensembl |
|
|
rs866563020 CA283887546 |
133 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1295426456 CA396806989 |
134 | G>S | No |
ClinGen gnomAD |
|
|
rs1449110160 CA396806979 |
135 | V>A | No |
ClinGen gnomAD |
|
|
CA396806938 rs1395113544 |
141 | F>L | No |
ClinGen TOPMed |
|
|
rs1597041854 CA396806933 |
142 | S>C | No |
ClinGen Ensembl |
|
|
CA396806927 rs1316372142 |
143 | Y>C | No |
ClinGen gnomAD |
|
|
CA396806922 rs1402560294 |
144 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1033608835 CA396806921 |
144 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1033608835 CA283887543 |
144 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA396806916 rs1159838417 |
145 | L>S | No |
ClinGen gnomAD |
|
|
rs1358196751 CA396806905 |
146 | H>Q | No |
ClinGen TOPMed |
|
|
rs1415717006 CA396806910 |
146 | H>Y | No |
ClinGen TOPMed |
|
|
CA396806885 rs1165804917 |
148 | M>L | No |
ClinGen gnomAD |
|
|
CA8176188 rs761206046 |
149 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176187 rs761206046 |
149 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176186 rs750935858 |
149 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001091759 rs2080678621 |
153 | M>K | No |
ClinVar dbSNP |
|
|
CA8176182 rs768932063 |
155 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs763278002 CA8176181 |
156 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8176180 rs776437833 |
157 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176177 rs777631968 |
161 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs771567595 CA8176176 |
162 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8176175 rs566395744 |
163 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396806780 rs778407563 |
164 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283887464 rs925674001 |
164 | P>L | No |
ClinGen Ensembl |
|
|
CA8176174 rs778407563 |
164 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8176172 rs753468407 |
166 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8176171 rs549400559 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. Joubert syndrome 20 (jbts20) [NCI-TCGA, Ensembl] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA396806756 rs1172517289 |
168 | S>F | No |
ClinGen gnomAD |
|
|
CA396806748 rs1452058873 |
169 | Q>H | No |
ClinGen gnomAD |
|
|
rs768202616 CA8176168 |
170 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176167 rs751631216 |
171 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283887454 rs949993630 |
171 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 172 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764290969 CA8176165 |
172 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1207715344 CA396806730 |
173 | N>H | No |
ClinGen gnomAD |
|
|
rs763194213 CA8176164 |
174 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 175 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8176161 rs770748954 |
180 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA396806670 rs1597041349 |
181 | K>N | No |
ClinGen Ensembl |
|
|
rs1314035826 CA396806676 |
181 | K>Q | No |
ClinGen gnomAD |
|
|
CA396806672 rs1231338240 |
181 | K>R | No |
ClinGen TOPMed |
|
|
rs760455133 CA283887441 |
182 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760455133 CA8176160 |
182 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771939606 CA8176158 |
183 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396806640 rs1280264089 |
186 | C>Y | No |
ClinGen TOPMed |
|
|
CA8176156 rs563492919 |
187 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1360459559 CA396806610 |
190 | D>G | No |
ClinGen gnomAD |
|
|
CA8176155 rs768198169 |
190 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8176154 rs748950823 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396806591 rs1419054234 |
191 | A>V | No |
ClinGen gnomAD |
|
|
CA8176152 rs756494100 |
192 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781697461 CA8176150 |
193 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8176151 rs750683235 |
193 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396806576 rs750683235 |
193 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396806544 rs199776253 |
194 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201412708 CA8176120 |
195 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762957747 CA8176121 |
195 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239013549 CA396805060 |
196 | S>P | No |
ClinGen TOPMed |
|
|
rs745485432 CA8176118 |
197 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA396805027 rs1219175804 |
198 | I>T | No |
ClinGen TOPMed |
|
|
CA396805005 rs1392169507 |
199 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396805008 rs1392169507 |
199 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776470341 CA396804995 CA8176117 |
200 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747313012 CA8176115 |
201 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597038573 CA396804980 |
201 | T>P | No |
ClinGen Ensembl |
|
|
rs997609407 CA283886348 |
203 | P>H | No |
ClinGen gnomAD |
|
|
rs997609407 CA396804942 |
203 | P>L | No |
ClinGen gnomAD |
|
|
rs778214389 CA8176114 |
204 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs758783125 CA8176113 |
205 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8176111 rs374279951 |
206 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396804897 rs374279951 |
206 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372018476 CA8176108 |
207 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192462687 CA8176109 |
207 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs192462687 CA8176110 |
207 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396804833 rs1391991182 |
210 | L>F | No |
ClinGen gnomAD |
|
|
rs1372615470 CA396804810 |
211 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8176105 rs762755463 |
211 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs752719030 CA8176104 |
212 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176103 rs764629306 |
216 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396804732 rs1393288948 |
216 | A>V | No |
ClinGen gnomAD |
|
|
rs1332741696 CA396804633 |
221 | N>Y | No |
ClinGen TOPMed |
|
|
CA283885938 rs771853785 |
222 | V>A | No |
ClinGen Ensembl |
|
|
rs1235414038 CA396804532 |
223 | T>A | No |
ClinGen gnomAD |
|
|
CA283885936 rs971651334 |
223 | T>I | No |
ClinGen Ensembl |
|
|
CA8176074 rs746055228 |
225 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8176073 rs781532766 |
226 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs758122684 CA8176072 |
227 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778875107 CA8176070 |
232 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA396804467 rs1286197098 |
233 | W>G | No |
ClinGen gnomAD |
|
|
rs1279598268 CA396804428 |
235 | V>A | No |
ClinGen TOPMed |
|
|
CA8176069 rs754926460 |
235 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs765968316 CA8176067 |
236 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA396804419 rs1318615822 |
236 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8176064 rs139236786 |
239 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8176063 rs139236786 |
239 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369627585 CA8176062 |
240 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369627585 CA396804366 |
240 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472921341 CA396804347 |
241 | A>S | No |
ClinGen gnomAD |
|
|
rs1389082620 CA396804342 |
241 | A>V | No |
ClinGen gnomAD |
|
|
rs776025526 CA8176059 |
242 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176058 rs769850804 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA283885908 rs776025526 |
242 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396804285 rs776577271 |
246 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8176056 rs776577271 |
246 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1360898822 CA396804260 |
247 | A>G | No |
ClinGen TOPMed |
|
|
CA8176055 rs771137248 |
248 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747228664 CA8176054 |
248 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1024949621 CA283885896 |
249 | I>T | No |
ClinGen TOPMed |
|
|
rs1230743826 CA396804191 |
252 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs989041053 CA283885891 |
253 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1347974076 CA396804138 |
256 | I>T | No |
ClinGen gnomAD |
|
|
rs1232323806 CA396804145 |
256 | I>V | No |
ClinGen TOPMed |
|
|
CA8176025 rs777468315 |
259 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777468315 CA396803191 |
259 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753001243 CA8176023 |
261 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754352443 CA8176020 CA396803089 |
264 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176017 rs773434751 |
265 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8176018 rs760736190 |
265 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766469530 CA8176019 |
265 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8176014 rs775383043 |
269 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176013 rs769514118 |
270 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA283885343 rs867800918 |
272 | Q>H | No |
ClinGen Ensembl |
|
|
rs781046083 CA8176012 |
275 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs770469234 CA8176011 |
275 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396802887 rs1255772519 |
276 | I>F | No |
ClinGen gnomAD |
|
|
CA396802891 rs1255772519 |
276 | I>L | No |
ClinGen gnomAD |
|
|
CA283885332 rs996998383 |
279 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs777276611 CA8176009 |
279 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA396802809 rs1394893772 |
281 | L>F | No |
ClinGen TOPMed |
|
|
rs1597035862 CA396802790 |
282 | W>R | No |
ClinGen Ensembl |
|
|
CA8176008 rs758007266 |
287 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317243143 CA396802644 |
288 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8176005 rs779314743 |
289 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314589091 CA396802589 |
289 | I>M | No |
ClinGen gnomAD |
|
|
CA8176006 rs779314743 |
289 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373660568 CA396802551 |
291 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373660568 CA8176003 |
291 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8176002 rs766732753 |
293 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1278027327 CA396802488 |
293 | Q>P | No |
ClinGen TOPMed |
|
|
rs761280513 CA8176001 |
295 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768632156 CA396802326 |
300 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA283885310 rs768632156 |
300 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1414698049 CA396802300 |
301 | P>L | No |
ClinGen gnomAD |
|
|
CA8175998 rs774482599 |
302 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769615510 CA8175997 |
303 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1454931168 CA396802286 |
303 | T>I | No |
ClinGen TOPMed |
|
|
rs1388920816 CA396802274 |
305 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776487689 CA8175995 |
306 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8175993 rs746970206 |
307 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770715825 CA8175994 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8175992 rs772678651 |
309 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA283885279 rs1020196870 |
309 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 310 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547634830 CA8175988 |
311 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA8175989 rs778497925 |
311 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396802224 rs1239654429 |
314 | H>Y | No |
ClinGen TOPMed |
|
|
CA8175985 rs756652972 |
315 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396802215 rs756652972 |
315 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396802217 rs1459683666 |
315 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751003462 CA396802212 |
316 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs751003462 CA8175984 |
316 | S>T | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H6L2
9 regional properties for Q9H6L2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thioredoxin domain | 132 - 259 | IPR013766-1 |
| domain | Thioredoxin domain | 268 - 378 | IPR013766-2 |
| domain | Thioredoxin domain | 376 - 504 | IPR013766-3 |
| conserved_site | Thioredoxin, conserved site | 295 - 313 | IPR017937-1 |
| conserved_site | Thioredoxin, conserved site | 416 - 434 | IPR017937-2 |
| domain | Protein disulfide-isomerase A5, N-terminal TRX-like b domain | 26 - 137 | IPR041865 |
| domain | Protein disulfide-isomerase A5, TRX (a) domain | 150 - 254 | IPR046374-1 |
| domain | Protein disulfide-isomerase A5, TRX (a) domain | 275 - 377 | IPR046374-2 |
| domain | Protein disulfide-isomerase A5, TRX (a) domain | 396 - 499 | IPR046374-3 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| neuroepithelial cell differentiation | The process in which epiblast cells acquire specialized features of neuroepithelial cells. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
| vasculature development | The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALYELFSHP | VERSYRAGLC | SKAALFLLLA | AALTYIPPLL | VAFRSHGFWL | KRSSYEEQPT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VRFQHQVLLV | ALLGPESDGF | LAWSTFPAFN | RLQGDRLRVP | LVSTREEDRN | QDGKTDMLHF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLELPLQSTE | HVLGVQLILT | FSYRLHRMAT | LVMQSMAFLQ | SSFPVPGSQL | YVNGDLRLQQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KQPLSCGGLD | ARYNISVING | TSPFAYDYDL | THIVAAYQER | NVTTVLNDPN | PIWLVGRAAD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| APFVINAIIR | YPVEVISYQP | GFWEMVKFAW | VQYVSILLIF | LWVFERIKIF | VFQNQVVTTI |
| 310 | |||||
| PVTVTPRGDL | CKEHLS |