Q86WG3
PR
Gene name |
ATCAY (KIAA1872) |
Protein name |
Caytaxin |
Names |
Ataxia cayman type protein, BNIP-2-homology, BNIP-H |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:85300 |
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 Q86WG3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86WG3-F1 | Predicted | AlphaFoldDB |
293 variants for Q86WG3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000887770 RCV001131436 CA9087030 rs147031440 |
33 | G>E | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA403366380 rs1381590154 RCV001129122 |
95 | V>M | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001330202 rs147684273 CA9087141 |
124 | V>M | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756591751 CA9087147 RCV001132373 |
127 | A>T | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000606397 COSM1183866 rs200021943 CA9087180 RCV002531734 |
148 | A>T | Cayman type cerebellar ataxia large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9087197 CA403369622 rs374611192 RCV000315904 |
160 | G>R | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA9087255 RCV000396727 rs537155754 |
190 | A>T | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001134759 rs2038904766 |
241 | R>W | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_017164 | 301 | S>R | ATCAY [UniProt] | Yes | UniProt |
|
rs756401076 CA9087429 RCV001129776 |
354 | P>S | Cayman type cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA403355652 rs1377453290 |
3 | T>I | No |
ClinGen gnomAD |
|
|
rs937126056 CA304411476 |
4 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs868017605 CA304411478 |
5 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403355705 rs1215062794 |
6 | A>T | No |
ClinGen gnomAD |
|
|
CA403355715 rs1281876611 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA304411483 rs1057024264 |
7 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9086999 rs770582696 |
9 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368213837 CA304411488 |
12 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1467407935 CA403355876 |
13 | V>A | No |
ClinGen gnomAD |
|
|
rs745720974 CA304411490 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9087001 rs745720974 COSM1183868 |
13 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9087003 rs775624223 |
15 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181187916 CA403356000 |
19 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333578472 CA403356061 |
22 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403356089 rs1357712867 |
23 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9087024 rs768227102 |
27 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351386689 CA403363138 |
29 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9087025 rs776213982 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9087026 rs747684170 |
31 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769474716 CA9087027 |
32 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763273815 CA9087029 |
33 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763273815 CA304419742 |
33 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA403363195 rs1599285575 |
34 | V>G | No |
ClinGen Ensembl |
|
|
rs774788713 CA9087031 |
34 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA403363242 rs1440858036 |
38 | G>S | No |
ClinGen gnomAD |
|
|
rs549656846 CA9087034 |
40 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403363272 rs1358104545 |
40 | P>T | No |
ClinGen gnomAD |
|
|
CA403363288 rs1599285597 |
41 | V>G | No |
ClinGen Ensembl |
|
|
CA9087036 rs764352635 |
42 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1208532114 CA403363331 |
45 | S>C | No |
ClinGen gnomAD |
|
|
rs369506043 CA9087054 |
48 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754056923 CA9087056 |
50 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266093961 CA403365218 |
51 | L>I | No |
ClinGen gnomAD |
|
|
CA9087058 rs535876762 |
51 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1171878053 CA403365233 |
52 | N>Y | No |
ClinGen gnomAD |
|
|
CA304420841 CA9087060 rs373392142 |
54 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs933763316 CA304420838 |
54 | N>S | No |
ClinGen Ensembl |
|
|
CA9087061 rs781157054 |
55 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199582357 CA9087062 |
56 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199582357 CA9087063 |
56 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1437111292 CA403365425 |
57 | H>R | No |
ClinGen gnomAD |
|
|
CA9087064 rs376454003 |
58 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199662587 CA304420852 |
58 | R>H | No |
ClinGen Ensembl |
|
|
CA9087065 rs748869597 |
59 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs370499062 CA9087066 |
62 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568448388 CA403365708 |
66 | P>S | No |
ClinGen Ensembl |
|
|
rs1568448398 CA403365749 |
67 | E>Q | No |
ClinGen Ensembl |
|
|
CA9087070 rs776023908 |
70 | I>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469024193 CA403365919 |
74 | Q>E | No |
ClinGen TOPMed |
|
|
rs761102256 CA9087071 |
74 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1265421607 CA403365943 |
75 | S>N | No |
ClinGen gnomAD |
|
|
rs768716319 CA9087072 |
77 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765538404 CA9087075 |
80 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1163776081 CA403366062 |
82 | D>N | No |
ClinGen gnomAD |
|
|
rs1348090538 COSM279022 CA403366128 |
84 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs767240700 CA9087078 |
86 | D>G | No |
ClinGen ExAC |
|
|
CA403366222 rs1338351222 |
88 | P>L | No |
ClinGen gnomAD |
|
|
CA403366315 rs1374160586 |
92 | D>H | No |
ClinGen gnomAD |
|
|
rs538100482 CA9087080 |
94 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403366467 rs1238878815 |
98 | I>F | No |
ClinGen gnomAD |
|
|
TCGA novel rs1219353093 CA403366523 |
99 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
rs1033516323 CA304420894 |
99 | E>G | No |
ClinGen gnomAD |
|
|
rs201501328 CA9087082 |
99 | E>K | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9087084 rs778505413 |
102 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403366619 rs1312345003 |
103 | E>D | No |
ClinGen TOPMed |
|
|
CA9087085 rs745548765 |
103 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403366649 COSM3422774 rs1181128566 |
105 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9087089 rs373713438 |
110 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777326805 CA9087090 |
111 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762841790 CA304420911 |
111 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 112 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770028979 CA9087092 |
113 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9087094 COSM996068 rs763099910 |
115 | E>K | endometrium Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9087095 rs767272889 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9087096 rs775140911 |
118 | W>* | No |
ClinGen ExAC gnomAD |
|
| rs758678492 | 120 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371914915 CA9087135 |
121 | D>N | Variant assessed as Somatic; 9.288e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9087136 rs768380047 |
121 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599288935 CA403368845 |
122 | T>P | No |
ClinGen Ensembl |
|
|
rs776407878 CA9087137 |
122 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769697842 CA9087139 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765940923 CA9087142 |
125 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368675084 CA9087143 |
125 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759270304 CA9087144 |
126 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200206649 CA9087145 |
126 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9087148 rs778107487 |
129 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA403369031 rs1478929428 |
130 | M>I | No |
ClinGen gnomAD |
|
|
rs578139322 CA9087150 |
130 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403369009 rs1231453418 |
130 | M>V | No |
ClinGen TOPMed |
|
|
CA403369038 rs1346595758 |
131 | P>L | No |
ClinGen TOPMed |
|
|
rs1476408952 CA403369056 |
132 | G>E | No |
ClinGen Ensembl |
|
|
CA9087152 rs200734663 CA9087153 |
132 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543630723 CA403369088 |
133 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372829245 CA9087154 |
133 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372829245 CA9087155 |
133 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772977190 CA9087157 |
134 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs377183590 CA9087159 COSM1737034 |
135 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs773910189 CA9087160 |
135 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403369125 rs1434023959 |
136 | D>N | No |
ClinGen TOPMed |
|
|
rs767253821 CA9087162 |
137 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1337930868 CA403369154 |
137 | L>V | No |
ClinGen gnomAD |
|
|
rs1355623680 CA403369183 |
138 | F>C | No |
ClinGen gnomAD |
|
|
CA304422085 rs766817037 |
139 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9087164 rs761078143 |
139 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764540810 CA9087165 |
140 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs903109801 CA304422096 |
141 | G>A | No |
ClinGen Ensembl |
|
|
rs201356634 CA9087168 |
141 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201356634 CA9087167 |
141 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369886984 CA9087170 |
142 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304422107 rs755440503 |
143 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3404194 rs755440503 CA9087172 |
143 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9087175 rs749108007 |
144 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777630820 CA9087174 |
144 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 145 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403369358 rs570425021 |
146 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570425021 CA9087177 |
146 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403369379 rs1568449237 |
147 | S>N | No |
ClinGen Ensembl |
|
|
CA403369399 rs1311440202 |
148 | A>V | No |
ClinGen gnomAD |
|
|
rs199529579 COSM2150941 CA9087182 |
149 | A>T | central_nervous_system Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599289097 CA403369418 |
149 | A>V | No |
ClinGen Ensembl |
|
|
rs756194762 CA9087184 |
151 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750960090 CA9087186 |
152 | R>C | Variant assessed as Somatic; 0.0001393 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372708763 CA9087187 |
152 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751719124 CA9087189 |
154 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs375699107 CA9087191 |
155 | R>Q | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1245629 rs755227202 CA9087190 |
155 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599289124 CA403369516 |
156 | T>A | No |
ClinGen Ensembl |
|
|
rs749084637 CA9087192 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9087194 rs778950504 |
158 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958265303 CA304422191 |
161 | E>* | No |
ClinGen TOPMed |
|
|
rs1445883816 CA403369692 |
162 | Q>E | No |
ClinGen gnomAD |
|
|
CA403369803 rs1315164000 |
164 | H>R | No |
ClinGen gnomAD |
|
|
CA403369832 rs1256861276 COSM1481015 |
165 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs910209467 CA304422202 |
166 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403369947 rs376914878 |
167 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765612634 CA9087202 |
167 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304422210 rs1021166538 |
170 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766940653 CA9087205 |
172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371358607 CA9087204 |
172 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403370175 rs1176122367 |
173 | P>S | Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs903077377 COSM996081 CA304422228 |
175 | M>T | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA403370270 rs1376785356 |
175 | M>V | No |
ClinGen gnomAD |
|
|
CA9087206 rs751629224 |
177 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755058816 CA9087207 |
178 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA304422251 rs934611211 |
179 | T>N | No |
ClinGen gnomAD |
|
|
CA403370487 rs533180596 |
180 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 181 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403370498 rs1369613975 |
181 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764388997 CA403370997 |
183 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA9087248 rs764388997 |
183 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9087250 rs375143281 |
185 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9087253 rs763717373 |
186 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781251468 CA304422561 |
187 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781251468 CA403371118 |
187 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781251468 CA9087254 |
187 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403371152 rs1483425266 |
188 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs537155754 CA403371206 |
190 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1160549753 CA403371215 |
190 | A>V | No |
ClinGen gnomAD |
|
|
rs946719341 CA304422564 |
191 | I>V | No |
ClinGen TOPMed |
|
|
CA9087257 rs777360536 |
193 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748957456 CA9087258 |
195 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866129390 CA304422569 |
197 | C>* | No |
ClinGen Ensembl |
|
|
CA403371451 rs1201477443 |
198 | F>L | No |
ClinGen TOPMed |
|
|
rs757557509 CA9087259 |
199 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA9087260 rs371570344 |
203 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403371614 rs1221735539 |
205 | P>L | No |
ClinGen gnomAD |
|
|
rs1349281740 CA403371601 |
205 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs368644309 CA9087265 |
206 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368644309 CA9087266 |
206 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403371716 rs1346707264 |
208 | H>D | No |
ClinGen TOPMed |
|
|
CA403371767 rs1234958255 |
210 | I>L | No |
ClinGen TOPMed |
|
|
rs1333806280 CA403371807 |
211 | M>T | No |
ClinGen TOPMed |
|
|
rs1599289641 CA403371843 |
213 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758633621 CA9087297 |
218 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292150473 CA403373457 |
221 | S>N | No |
ClinGen gnomAD |
|
|
CA403373559 rs1221813813 |
229 | D>G | No |
ClinGen gnomAD |
|
|
rs1409175685 CA403373571 |
230 | Y>C | No |
ClinGen TOPMed |
|
|
CA9087300 rs755532200 |
231 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs377568098 CA9087299 |
231 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403373602 rs1372801681 |
233 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403373600 rs1372801681 |
233 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9087305 rs749534755 |
237 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403373628 COSM3692723 rs1300743591 |
237 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9087307 rs775258490 |
238 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753265304 CA304423046 |
239 | T>M | No |
ClinGen gnomAD |
|
|
rs776589438 CA9087310 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9087311 rs761188111 |
241 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9087312 COSM3222729 rs373780288 |
242 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403373674 rs1356130704 COSM439425 |
244 | M>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1205901715 CA403373717 |
247 | I>S | No |
ClinGen gnomAD |
|
|
rs1005319363 CA304423058 |
248 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 249 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337604986 CA403373762 |
251 | K>R | No |
ClinGen TOPMed |
|
|
CA403373789 rs1599290979 |
253 | C>G | No |
ClinGen Ensembl |
|
| TCGA novel | 256 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424695321 CA403373859 |
258 | D>E | No |
ClinGen Ensembl |
|
|
CA9087315 rs766194738 |
258 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762664911 CA9087314 |
258 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA403373850 rs762664911 COSM996095 |
258 | D>N | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA403373867 rs755437219 |
259 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9087317 rs755437219 |
259 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403373863 rs751953427 |
259 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467247818 CA403373955 |
261 | L>F | No |
ClinGen gnomAD |
|
|
COSM996101 rs1382365615 CA403373964 |
262 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA403373961 rs1176895380 |
262 | R>W | No |
ClinGen gnomAD |
|
|
CA304423507 rs974592593 |
263 | K>R | No |
ClinGen TOPMed |
|
|
CA403374022 rs1300925379 |
265 | L>V | No |
ClinGen TOPMed |
|
|
CA403374147 rs1385634290 |
271 | V>I | No |
ClinGen TOPMed |
|
|
rs1164716183 CA403374179 |
272 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403374260 rs1489339459 |
276 | F>V | No |
ClinGen TOPMed |
|
|
rs1323208400 CA403374322 |
278 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1323208400 CA403374317 |
278 | R>Q | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM259546 CA304423539 rs376658701 |
278 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs753075939 CA9087336 |
284 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1568450435 CA403374437 |
285 | R>C | No |
ClinGen Ensembl |
|
|
CA9087337 COSM1392698 rs756637199 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1434579875 CA403374452 |
286 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753930037 CA9087339 |
287 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304423547 rs761281770 |
288 | I>M | No |
ClinGen Ensembl |
|
|
rs750568262 CA9087360 |
290 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9087361 rs758607461 |
291 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1056403616 CA304424692 |
291 | K>R | No |
ClinGen Ensembl |
|
|
COSM996115 CA403376385 rs1568451503 |
292 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9087363 rs747947019 |
294 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9087362 rs780190631 |
294 | N>S | No |
ClinGen ExAC |
|
|
CA403376466 rs1475357989 |
295 | K>N | No |
ClinGen TOPMed |
|
|
CA403376537 rs777720695 |
299 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9087365 rs777720695 |
299 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1485447287 CA403376543 |
300 | H>N | No |
ClinGen gnomAD |
|
|
CA403376656 rs1258259032 |
306 | E>G | No |
ClinGen gnomAD |
|
|
rs1568451521 CA403376653 |
306 | E>Q | No |
ClinGen Ensembl |
|
|
CA304424710 rs959371377 |
308 | L>R | No |
ClinGen TOPMed |
|
|
CA403376780 rs1242642102 |
311 | M>T | No |
ClinGen TOPMed |
|
|
rs1164307366 CA403376768 |
311 | M>V | No |
ClinGen gnomAD |
|
|
rs1467218156 CA403376817 |
313 | H>P | No |
ClinGen TOPMed |
|
|
CA403376826 rs1214367792 |
314 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775043103 CA9087371 |
315 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA403376877 rs1293690242 |
320 | V>I | No |
ClinGen TOPMed |
|
|
CA304426316 rs989099680 |
323 | Y>D | No |
ClinGen Ensembl |
|
|
rs759668217 CA9087399 |
324 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403377614 rs1313887762 |
325 | E>A | No |
ClinGen TOPMed |
|
|
rs368626484 CA9087400 |
325 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372049992 CA9087401 |
329 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757155455 CA9087402 |
330 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1324066146 CA403377713 |
330 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304426352 rs947725462 COSM1195959 |
331 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| rs767813874 | 334 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403378186 rs572107692 |
335 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572107692 CA9087419 |
335 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9087420 rs112396816 COSM996119 |
335 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750308240 CA9087422 |
337 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750308240 CA403378226 |
337 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403378293 rs1199162322 |
339 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403378346 rs1476692114 |
341 | F>S | No |
ClinGen gnomAD |
|
|
rs766387785 CA9087424 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403378522 rs1362233598 |
348 | E>G | No |
ClinGen gnomAD |
|
|
rs375999784 CA9087426 |
348 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403378573 rs1403885439 |
350 | P>L | No |
ClinGen gnomAD |
|
|
CA403378569 rs1403885439 |
350 | P>R | No |
ClinGen gnomAD |
|
|
CA9087428 rs747810041 |
352 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs756401076 CA403378664 |
354 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs778102798 CA9087430 |
355 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1438058648 CA403378810 |
358 | R>M | No |
ClinGen TOPMed |
|
|
rs1216358872 CA403379821 |
360 | A>T | No |
ClinGen gnomAD |
|
|
CA9087453 rs780277278 |
360 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747143501 CA9087454 |
361 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1173977246 CA403379971 |
365 | D>N | No |
ClinGen Ensembl |
|
|
rs374308941 CA9087456 |
366 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267605416 CA304428200 |
366 | Q>R | No |
ClinGen Ensembl |
|
|
CA403380022 rs1337365377 |
367 | E>K | No |
ClinGen gnomAD |
|
|
CA9087457 rs776942727 |
368 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290984596 CA403345629 |
370 | M>I | No |
ClinGen gnomAD |
|
|
CA403345624 rs1198562374 |
370 | M>T | No |
ClinGen TOPMed |
|
|
rs756334577 CA9087494 |
371 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
1 associated diseases with Q86WG3
[MIM: 601238]: Cerebellar ataxia, cayman type (ATCAY)
Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. {ECO:0000269|PubMed:14556008}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. {ECO:0000269|PubMed:14556008}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q86WG3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 41 - 80 | IPR001680-1 |
| repeat | WD40 repeat | 85 - 124 | IPR001680-2 |
| repeat | WD40 repeat | 134 - 170 | IPR001680-3 |
| repeat | WD40 repeat | 191 - 232 | IPR001680-4 |
| repeat | WD40 repeat | 235 - 273 | IPR001680-5 |
| repeat | WD40 repeat | 312 - 356 | IPR001680-6 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| mitochondrion distribution | Any process that establishes the spatial arrangement of mitochondria between and within cells. |
| negative regulation of glutamate metabolic process | Any process that stops, prevents, or reduces the frequency, rate or extent of glutamate metabolic process. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BHE3 | Atcay | Caytaxin | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGTTEATLRM | ENVDVKEEWQ | DEDLPRPLPE | ETGVELLGSP | VEDTSSPPNT | LNFNGAHRKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTLVAPEINI | SLDQSEGSLL | SDDFLDTPDD | LDINVDDIET | PDETDSLEFL | GNGNELEWED |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DTPVATAKNM | PGDSADLFGD | GTTEDGSAAN | GRLWRTVIIG | EQEHRIDLHM | IRPYMKVVTH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GGYYGEGLNA | IIVFAACFLP | DSSLPDYHYI | MENLFLYVIS | SLELLVAEDY | MIVYLNGATP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRRMPGIGWL | KKCYQMIDRR | LRKNLKSLII | VHPSWFIRTV | LAISRPFISV | KFINKIQYVH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLEDLEQLIP | MEHVQIPDCV | LQYEEERLKA | RRESARPQPE | FVLPRSEEKP | EVAPVENRSA |
| 370 | |||||
| LVSEDQETSM | S |