O96005
PR
Gene name |
CLPTM1 |
Protein name |
Putative lipid scramblase CLPTM1 |
Names |
Cleft lip and palate transmembrane protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1209 |
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 O96005
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O96005-F1 | Predicted | AlphaFoldDB |
423 variants for O96005
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1000005480 CA308881789 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406296409 rs1166558490 |
3 | A>V | No |
ClinGen Ensembl |
|
|
CA406296429 rs1242961099 |
5 | Q>E | No |
ClinGen gnomAD |
|
|
rs998710713 CA308881858 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1390106775 CA406296484 |
8 | D>E | No |
ClinGen TOPMed |
|
|
CA406296472 rs1233778279 |
8 | D>Y | No |
ClinGen gnomAD |
|
|
CA308881887 rs981082621 |
9 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406296490 rs1568638018 |
9 | G>W | No |
ClinGen Ensembl |
|
|
rs760499739 CA308881900 |
10 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760499739 CA9506695 |
10 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406296498 rs760499739 |
10 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272185967 CA406296506 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1206048137 CA406296512 |
11 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768262557 CA9506696 |
11 | R>P | No |
ClinGen ExAC |
|
|
rs1210527843 CA406296526 |
12 | S>N | No |
ClinGen TOPMed |
|
|
CA406296532 rs1244424165 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs962978211 CA308881934 |
14 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1600001141 CA406296549 |
16 | A>T | No |
ClinGen Ensembl |
|
|
CA406296571 rs980948842 |
18 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs980948842 CA308881941 |
18 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA406296564 rs1193806194 |
18 | G>R | No |
ClinGen gnomAD |
|
|
rs1167320603 CA406296601 |
20 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA308881955 rs926816880 |
21 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1323064547 CA406296630 |
22 | S>Y | No |
ClinGen TOPMed |
|
|
rs1382086891 CA406296652 |
24 | Q>* | No |
ClinGen TOPMed |
|
|
CA9506699 rs764989831 |
24 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA308887818 rs908610675 |
25 | V>A | No |
ClinGen gnomAD |
|
|
CA9506718 rs141106569 |
27 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769383719 CA9506719 |
29 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406296932 rs1294556289 |
30 | S>G | No |
ClinGen gnomAD |
|
|
CA9506721 rs144895422 |
32 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs902894831 CA308887896 |
34 | D>A | No |
ClinGen Ensembl |
|
|
rs1218628804 CA406296987 |
34 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs902894831 CA406296983 |
34 | D>G | No |
ClinGen Ensembl |
|
|
rs543191082 CA9506723 |
34 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368725337 CA9506724 |
35 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406296999 rs1368217352 |
36 | P>A | No |
ClinGen TOPMed |
|
|
CA406297013 rs952278058 |
37 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA308887908 rs952278058 |
37 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9506726 rs753152761 |
37 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406297019 rs1321513147 |
38 | E>K | No |
ClinGen TOPMed |
|
|
rs1600009904 CA406297034 |
39 | T>A | No |
ClinGen Ensembl |
|
|
rs146651919 CA9506728 |
39 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146651919 CA406297036 |
39 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9506729 rs754110120 |
40 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406297080 rs1600009939 |
43 | N>T | No |
ClinGen Ensembl |
|
|
rs779968386 CA9506731 |
45 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9506732 rs746787209 |
45 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192393718 CA406297115 |
46 | A>G | No |
ClinGen TOPMed |
|
|
CA9506734 rs781017565 |
48 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209031890 CA406297158 |
50 | P>L | No |
ClinGen TOPMed |
|
|
rs545425237 CA9506736 |
51 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406297179 rs1237961025 |
52 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9506737 rs772832625 |
55 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902926484 CA308888032 |
57 | K>R | No |
ClinGen gnomAD |
|
|
rs755981416 CA9506756 CA406299578 |
64 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777780310 CA9506757 |
69 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9506760 rs778256603 |
74 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1201435 CA9506761 rs745415184 |
74 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA406299833 rs772409757 |
75 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772409757 CA9506762 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150314527 CA406299834 |
75 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA308897101 rs150314527 |
75 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1389124245 CA406299840 |
76 | G>R | No |
ClinGen Ensembl |
|
|
CA406299850 rs1168016183 |
76 | G>V | No |
ClinGen gnomAD |
|
|
CA9506763 rs374102168 |
77 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406299908 rs1370783049 |
80 | Q>R | No |
ClinGen gnomAD |
|
|
rs1568384732 CA406299919 |
81 | D>N | No |
ClinGen Ensembl |
|
|
rs769001973 CA9506765 |
82 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562193044 CA9506766 |
83 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9506768 rs765533100 |
85 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1251169141 CA406300005 |
85 | P>S | No |
ClinGen TOPMed |
|
|
rs1341560422 CA406300020 |
86 | G>R | No |
ClinGen gnomAD |
|
|
CA406300062 rs1479614516 |
88 | A>T | No |
ClinGen TOPMed |
|
|
rs1223291329 CA406300108 |
89 | P>L | No |
ClinGen TOPMed |
|
|
rs1468782536 COSM1129794 CA406300113 |
90 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752680864 CA9506772 COSM1201433 |
90 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs571801848 CA9506774 |
91 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371543810 CA9506776 |
92 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9506777 rs371543810 |
92 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9506778 rs192663448 |
94 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA308897237 rs991138200 |
96 | L>V | No |
ClinGen Ensembl |
|
|
rs1462645105 CA406300287 |
99 | K>R | No |
ClinGen gnomAD |
|
|
CA9506780 rs779604950 |
102 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs138504126 CA9506802 |
104 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484656105 CA406301218 |
106 | H>Y | No |
ClinGen gnomAD |
|
|
CA9506805 rs749506329 |
113 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9506807 rs774534426 |
114 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9506809 rs750258939 |
119 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750258939 CA308898557 |
119 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9506812 rs761721741 |
120 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761721741 CA9506811 |
120 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750231038 CA9506813 |
121 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1376192635 CA406301486 |
121 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755667948 CA9506815 |
122 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA308898593 rs141421531 |
123 | A>S | No |
ClinGen ESP TOPMed |
|
|
rs141421531 CA406301501 |
123 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1392118815 CA406301508 |
123 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1681111 CA308898598 rs112993826 |
126 | W>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs756631414 CA406301635 |
129 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308898640 rs916561024 |
130 | D>G | No |
ClinGen Ensembl |
|
|
rs779689343 COSM998098 CA9506821 |
130 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200975575 CA9506823 |
132 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745875304 CA9506825 |
135 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772091016 CA308898659 |
138 | S>G | No |
ClinGen Ensembl |
|
|
CA9506830 rs773018110 |
140 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9506829 rs765124173 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406302039 rs1353938569 |
144 | G>V | No |
ClinGen gnomAD |
|
|
rs1333606656 CA406302082 |
146 | Y>C | No |
ClinGen gnomAD |
|
|
rs1333606656 CA406302086 |
146 | Y>F | No |
ClinGen gnomAD |
|
|
CA406302098 rs1449602757 |
147 | E>K | No |
ClinGen TOPMed |
|
|
CA406302234 rs1209353903 |
152 | L>F | No |
ClinGen TOPMed |
|
|
rs1271685356 CA406302257 |
153 | D>E | No |
ClinGen gnomAD |
|
|
CA9506838 rs756606533 |
153 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778166767 CA9506839 |
154 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1307561603 CA406302266 |
154 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9506840 rs754197939 |
156 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310542802 CA406302656 |
158 | V>I | No |
ClinGen gnomAD |
|
|
CA9506863 rs779396307 |
159 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750857131 CA9506864 |
160 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA406302728 rs1222459462 |
162 | G>S | No |
ClinGen gnomAD |
|
|
rs1283947493 CA406302742 |
163 | S>P | No |
ClinGen gnomAD |
|
|
CA406302834 rs1485378236 |
168 | V>I | No |
ClinGen gnomAD |
|
|
rs781310487 CA9506869 |
169 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA406302973 rs1157793562 |
175 | F>S | No |
ClinGen gnomAD |
|
|
rs1600031311 CA406302994 |
176 | H>P | No |
ClinGen Ensembl |
|
|
rs1421508090 CA406303045 |
178 | D>A | No |
ClinGen gnomAD |
|
|
rs1421508090 CA406303047 |
178 | D>G | No |
ClinGen gnomAD |
|
|
rs1171663505 CA406303061 |
179 | P>S | No |
ClinGen gnomAD |
|
|
CA9506871 rs770897370 |
180 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374367230 CA406303070 |
180 | R>W | No |
ClinGen gnomAD |
|
|
CA406303126 rs1395548068 |
183 | A>S | No |
ClinGen TOPMed |
|
|
CA9506872 rs774095864 |
184 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA406303149 rs1600031378 |
185 | Y>S | No |
ClinGen Ensembl |
|
|
rs137904804 CA9506873 RCV000887276 |
186 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9506874 rs771699515 |
186 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406303175 rs771699515 |
186 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243025738 CA406303183 |
187 | R>Q | No |
ClinGen gnomAD |
|
|
CA406303179 rs1246167374 |
187 | R>W | No |
ClinGen TOPMed |
|
|
CA406303208 rs1278787270 |
189 | A>T | No |
ClinGen gnomAD |
|
|
CA406303247 rs1347740393 |
191 | V>I | No |
ClinGen gnomAD |
|
|
rs1201129095 CA406303274 |
192 | H>R | No |
ClinGen gnomAD |
|
|
CA406303287 rs79721511 |
193 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9506876 rs79721511 |
193 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9506878 rs776330038 |
195 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763683339 CA9506877 |
195 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1170999985 CA406305103 |
197 | I>N | No |
ClinGen gnomAD |
|
|
rs767271081 CA308911960 |
202 | R>C | No |
ClinGen gnomAD |
|
|
CA9506899 rs773592797 |
202 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9506898 rs773592797 |
202 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568388315 CA406305228 |
204 | R>* | No |
ClinGen Ensembl |
|
|
rs1568388318 CA406305347 |
209 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375955885 CA9506904 |
219 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406306310 rs1186826260 |
228 | D>G | No |
ClinGen gnomAD |
|
|
CA9506930 rs751251868 |
228 | D>Y | No |
ClinGen ExAC |
|
|
CA406306317 rs1256457499 |
229 | Y>C | No |
ClinGen gnomAD |
|
|
rs999084779 CA308913022 |
229 | Y>H | No |
ClinGen TOPMed |
|
|
CA9506931 rs754823093 |
244 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308913055 rs146761034 |
248 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA406306452 rs1458627225 |
249 | D>N | No |
ClinGen gnomAD |
|
|
rs1304684170 CA406306473 |
251 | T>M | No |
ClinGen gnomAD |
|
|
CA406306479 rs1452638022 |
252 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 254 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406306490 rs1298268625 |
254 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774928071 CA9506938 |
263 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs148911976 CA308913104 |
264 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406306747 rs1391095934 |
266 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899497370 CA308913541 |
270 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA406306873 rs1333121472 |
270 | A>V | No |
ClinGen gnomAD |
|
|
CA406306879 rs1435749475 |
271 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9506960 rs375159260 |
273 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406306940 rs1179033404 |
274 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9506962 rs150943861 |
279 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9506963 rs768702439 |
281 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA882686010 rs1269101904 |
284 | Y>* | No |
ClinGen TOPMed |
|
|
rs776912395 CA9506964 |
290 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9506965 rs762003789 |
292 | Y>S | No |
ClinGen ExAC |
|
|
COSM1481211 CA9506966 rs199925354 |
296 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773471647 CA9506967 |
299 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406307659 rs1191610329 |
302 | P>S | No |
ClinGen gnomAD |
|
|
rs1478311299 CA406307673 |
303 | L>F | No |
ClinGen gnomAD |
|
|
rs755945704 CA9506971 |
304 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9506972 rs372588500 |
304 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9506975 rs376613031 |
305 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376613031 CA9506974 |
305 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406307745 rs1428485802 |
307 | F>S | No |
ClinGen gnomAD |
|
|
CA9506978 rs780552418 |
311 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9506980 rs769057466 |
314 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1355160270 CA406307976 |
320 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9506983 rs769944481 |
323 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9506982 rs748376529 |
323 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA406308088 rs1166081433 |
325 | S>L | No |
ClinGen gnomAD |
|
|
CA9506986 rs767499149 |
328 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9506987 rs775565145 |
329 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs763928897 CA9506989 |
331 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756893559 CA9506991 |
332 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9506994 rs757907129 |
335 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749877186 CA9506993 |
335 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs375387209 CA9506996 |
336 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406308379 rs1245967389 |
337 | Q>P | No |
ClinGen TOPMed |
|
|
CA406308463 rs755484031 |
342 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9506998 rs755484031 |
342 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs781585955 CA9506999 |
345 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs748487644 CA406308516 |
346 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406309063 rs1482109890 |
347 | V>L | No |
ClinGen gnomAD |
|
|
CA9507040 rs757506581 |
353 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406309259 rs1464786614 |
358 | A>T | No |
ClinGen gnomAD |
|
|
rs779015086 CA9507041 |
358 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780237399 CA9507044 |
361 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748051771 CA9507045 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1308589679 CA406309354 |
363 | V>M | No |
ClinGen gnomAD |
|
|
CA9507047 rs772947537 |
364 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747000562 CA406309396 |
365 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747000562 CA9507048 |
365 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484002460 CA406309404 |
366 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1205983888 CA406309462 |
369 | V>I | No |
ClinGen gnomAD |
|
|
CA406309506 rs1457762279 |
371 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1275472013 CA406310682 |
378 | D>G | No |
ClinGen gnomAD |
|
|
CA308915499 rs78871821 |
383 | N>T | No |
ClinGen Ensembl |
|
|
CA9507082 rs751578355 |
384 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1191545366 CA406310735 |
385 | R>L | No |
ClinGen gnomAD |
|
|
CA406310734 rs1191545366 |
385 | R>P | No |
ClinGen gnomAD |
|
|
CA406310733 rs1191545366 |
385 | R>Q | No |
ClinGen gnomAD |
|
|
rs755048212 CA9507083 |
385 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9507084 rs565094329 |
387 | S>P | No |
ClinGen 1000Genomes ExAC |
|
|
CA308915509 rs959494770 |
389 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9507086 rs757259973 |
393 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507087 rs777780659 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9507088 rs745698927 |
394 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777780659 CA406310783 |
394 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs779855499 CA9507090 |
396 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138934999 CA9507091 |
397 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9507094 rs369829319 |
399 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770360744 COSM1394521 CA9507095 |
400 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA406310818 rs770360744 |
400 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773396556 CA406310851 |
404 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507097 rs547487438 |
405 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406310862 rs1161677576 |
406 | V>G | No |
ClinGen TOPMed |
|
|
CA9507098 rs149437878 |
406 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406310864 rs1447867400 |
407 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9507100 rs759807366 |
409 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs908170733 CA308915552 |
412 | D>E | No |
ClinGen TOPMed |
|
|
CA406310902 rs1194778255 |
413 | N>D | No |
ClinGen TOPMed |
|
|
rs1418637447 CA406310905 |
413 | N>S | No |
ClinGen gnomAD |
|
|
CA406310903 rs1194778255 |
413 | N>Y | No |
ClinGen TOPMed |
|
|
rs757094978 CA9507103 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778925393 CA9507104 |
415 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600048689 CA406310918 |
415 | T>P | No |
ClinGen Ensembl |
|
|
rs1402131487 CA406310932 |
417 | F>Y | No |
ClinGen gnomAD |
|
|
rs758206898 CA9507106 |
418 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571529832 CA308915567 |
420 | Q>R | No |
ClinGen gnomAD |
|
|
CA9507108 rs76182866 |
423 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA308915573 rs932463797 |
425 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9507109 rs376872645 |
425 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1373294326 CA406311024 |
431 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9507113 rs745872343 |
435 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507116 rs774741551 |
438 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs767749890 CA406311164 |
440 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767749890 CA9507118 |
440 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151296794 CA9507120 |
441 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752663268 COSM268901 CA9507119 |
441 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1600049115 CA406311278 |
442 | L>R | No |
ClinGen Ensembl |
|
|
CA406311310 rs1251604975 |
444 | R>* | No |
ClinGen gnomAD |
|
|
CA9507147 rs755763918 |
444 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9507148 rs141869236 |
445 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA308915732 rs868132581 |
446 | H>Q | No |
ClinGen Ensembl |
|
|
CA9507149 rs201593010 |
447 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757706926 CA9507150 |
448 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9507151 rs779401160 |
449 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200912082 CA406311392 |
450 | G>V | No |
ClinGen gnomAD |
|
|
CA406311419 rs1438262466 |
452 | F>C | No |
ClinGen TOPMed |
|
|
CA308915746 rs868090322 |
453 | P>L | No |
ClinGen Ensembl |
|
|
rs868090322 CA406311445 |
453 | P>R | No |
ClinGen Ensembl |
|
|
rs1568390527 CA406311426 |
453 | P>S | No |
ClinGen Ensembl |
|
|
CA9507153 rs746443345 |
454 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772411056 CA9507154 |
454 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507155 rs775764751 |
456 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1464019349 CA406311472 |
456 | S>Y | No |
ClinGen gnomAD |
|
|
rs747220054 CA9507156 |
457 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1235352513 CA406311499 |
458 | K>N | No |
ClinGen TOPMed |
|
|
CA406311486 rs1250756082 |
458 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9507157 rs376426056 |
459 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333156934 CA406311543 |
461 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1026391756 CA308915763 |
462 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA406311579 rs1305457177 |
464 | I>T | No |
ClinGen TOPMed |
|
|
rs950452524 CA308915771 |
464 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766350533 CA9507160 |
465 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406311603 rs1568390558 |
466 | S>C | No |
ClinGen Ensembl |
|
|
rs1327957623 CA406311610 |
467 | S>L | No |
ClinGen gnomAD |
|
|
rs767313756 CA9507163 |
469 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA406311729 rs1355844187 |
474 | M>L | No |
ClinGen TOPMed |
|
|
rs764692658 CA9507188 |
475 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9507189 rs749963098 |
476 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs200813739 CA9507191 |
477 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200860488 CA9507190 |
477 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_071064 rs140564801 CA9507193 |
478 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 481 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9507196 rs535252761 |
482 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs980051950 CA308915968 |
485 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749341562 CA9507198 |
488 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262964144 CA406311825 |
489 | C>F | No |
ClinGen gnomAD |
|
|
rs1262964144 CA406311823 |
489 | C>Y | No |
ClinGen gnomAD |
|
|
rs1236420322 CA406311832 |
490 | Y>C | No |
ClinGen TOPMed |
|
|
CA406311843 rs200044158 |
492 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200044158 CA9507200 |
492 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507201 rs373740871 |
493 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308915998 rs911230818 |
498 | L>M | No |
ClinGen gnomAD |
|
|
rs1470844531 CA406311905 |
501 | K>R | No |
ClinGen gnomAD |
|
|
CA406311909 rs1168197422 |
502 | G>S | No |
ClinGen gnomAD |
|
|
CA406311944 rs1280035207 |
506 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 509 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762373873 CA9507207 |
513 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751995007 | 518 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776982525 CA9507210 |
519 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764614148 CA9507232 |
519 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs372059273 CA308916416 |
524 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
| TCGA novel | 527 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 535 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383322658 CA406313033 |
539 | L>R | No |
ClinGen gnomAD |
|
|
CA406313039 rs1443861133 |
540 | P>A | No |
ClinGen gnomAD |
|
|
CA406313053 TCGA novel rs1163745449 |
541 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA406313061 rs1386548061 |
541 | W>C | No |
ClinGen gnomAD |
|
|
CA9507235 rs778814856 |
547 | K>T | No |
ClinGen ExAC |
|
|
rs1317163343 CA406313157 |
550 | N>H | No |
ClinGen gnomAD |
|
|
rs1475790997 CA406313197 |
553 | I>V | No |
ClinGen TOPMed |
|
|
CA406313223 rs1600051017 |
555 | D>A | No |
ClinGen Ensembl |
|
|
CA308916445 rs951486100 |
558 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs773106239 CA9507241 |
561 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748859824 CA9507242 |
562 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507244 rs369873479 |
565 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1568391037 CA406313336 |
566 | M>R | No |
ClinGen Ensembl |
|
|
rs1600051069 CA406313344 |
567 | Y>S | No |
ClinGen Ensembl |
|
|
rs1317683689 CA406313357 |
568 | R>Q | No |
ClinGen gnomAD |
|
|
rs548487634 CA406313377 |
570 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs548487634 CA9507245 COSM1394527 |
570 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1184109455 CA406313422 |
573 | R>Q | No |
ClinGen gnomAD |
|
|
CA406313445 rs1600051127 |
575 | D>N | No |
ClinGen Ensembl |
|
|
rs200229776 CA9507289 |
576 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960887120 CA308916653 |
577 | V>I | No |
ClinGen Ensembl |
|
|
CA9507290 rs763121084 |
581 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406313700 rs763121084 |
581 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373676663 CA9507291 |
582 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1269973506 CA406313758 |
585 | R>Q | No |
ClinGen gnomAD |
|
|
CA308916670 rs916956070 |
586 | W>R | No |
ClinGen Ensembl |
|
|
rs759657217 CA9507293 |
587 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA406313783 rs1192867798 |
587 | I>T | No |
ClinGen gnomAD |
|
|
CA406313811 rs1451869340 |
589 | R>C | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9507295 rs753795148 |
589 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308916686 rs753795148 |
589 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427049786 CA406313834 |
590 | V>I | No |
ClinGen TOPMed |
|
|
rs1568391218 CA406313867 |
592 | P>A | No |
ClinGen Ensembl |
|
|
rs1383019489 CA406313875 |
592 | P>L | No |
ClinGen gnomAD |
|
|
CA406313893 rs1381445946 |
593 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1450349917 CA406313953 |
597 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1359506612 CA406314010 |
600 | M>I | Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9507299 rs149033841 |
601 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368031542 CA9507301 |
603 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746722114 CA9507302 |
605 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406314140 rs1182264047 |
608 | A>T | No |
ClinGen gnomAD |
|
|
CA9507304 rs754494975 |
609 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362295316 CA406314175 |
610 | P>S | No |
ClinGen gnomAD |
|
|
rs199735762 CA9507306 |
611 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9507309 rs147801301 |
613 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771354926 CA9507310 |
614 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541453713 CA308916752 |
615 | P>H | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 615 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774543273 CA9507311 |
618 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774543273 CA406314317 |
618 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334878823 CA406314331 |
619 | G>A | No |
ClinGen gnomAD |
|
|
rs759726819 CA9507312 |
621 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9507313 COSM1304763 rs141261045 |
622 | T>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9507314 rs141261045 |
622 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1183730239 CA406314422 |
623 | P>L | No |
ClinGen gnomAD |
|
|
CA406314407 rs1462112252 |
623 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 624 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761764037 CA9507315 |
624 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs146714101 CA9507316 |
625 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418761022 CA406314459 |
625 | P>S | No |
ClinGen gnomAD |
|
|
rs1414398289 CA406314480 |
626 | A>T | No |
ClinGen gnomAD |
|
|
CA9507318 rs148362509 |
629 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754626403 CA9507321 |
632 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM143542 CA406314643 rs1395119344 |
633 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1391418163 CA406314674 |
635 | E>K | No |
ClinGen gnomAD |
|
|
CA9507322 rs546792040 |
637 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752168767 CA9507323 |
639 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA406314796 rs1340496865 |
641 | L>P | No |
ClinGen TOPMed |
|
|
CA308916843 rs967497730 |
641 | L>V | No |
ClinGen Ensembl |
|
|
CA406314813 rs1212819864 |
642 | P>A | No |
ClinGen gnomAD |
|
|
CA9507327 rs140584228 |
642 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9507326 rs140584228 |
642 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779293110 CA9507328 |
643 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507330 rs371810344 |
645 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479544347 CA406314958 |
646 | T>I | No |
ClinGen gnomAD |
|
|
rs199856102 CA9507331 |
647 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775586434 CA308916866 |
648 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775586434 CA9507332 |
648 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9507333 rs760671649 |
649 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA406315016 rs760671649 |
649 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406315102 rs1425316208 |
652 | A>V | No |
ClinGen gnomAD |
|
|
rs766244119 CA9507337 |
653 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA406315136 rs138129932 |
654 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9507339 rs759178546 |
654 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9507338 rs138129932 |
654 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1400793332 CA406315155 |
655 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1221242842 CA406315151 |
655 | P>S | No |
ClinGen gnomAD |
|
|
CA406315198 rs1294097116 |
658 | A>V | No |
ClinGen gnomAD |
|
|
rs1393589201 CA406315255 |
662 | P>L | No |
ClinGen gnomAD |
|
|
CA9507342 rs569264813 |
663 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752461597 CA9507341 |
663 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9507345 rs757794882 |
667 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs933912397 CA308916926 |
667 | K>R | No |
ClinGen Ensembl |
|
|
CA406315381 rs1184491825 |
669 | D>N | No |
ClinGen gnomAD |
No associated diseases with O96005
No regional properties for O96005
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O96005 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| integral component of plasma membrane | The component of the plasma 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GABA receptor binding | Binding to a gamma-aminobutyric acid (GABA, 4-aminobutyrate) receptor. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| regulation of T cell differentiation in thymus | Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAQEADGA | RSAVVAAGGG | SSGQVTSNGS | IGRDPPAETQ | PQNPPAQPAP | NAWQVIKGVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FRIFIIWAIS | SWFRRGPAPQ | DQAGPGGAPR | VASRNLFPKD | TLMNLHVYIS | EHEHFTDFNA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TSALFWEQHD | LVYGDWTSGE | NSDGCYEHFA | ELDIPQSVQQ | NGSIYIHVYF | TKSGFHPDPR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKALYRRLAT | VHMSRMINKY | KRRRFQKTKN | LLTGETEADP | EMIKRAEDYG | PVEVISHWHP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NITINIVDDH | TPWVKGSVPP | PLDQYVKFDA | VSGDYYPIIY | FNDYWNLQKD | YYPINESLAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPLRVSFCPL | SLWRWQLYAA | QSTKSPWNFL | GDELYEQSDE | EQDSVKVALL | ETNPYLLALT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IIVSIVHSVF | EFLAFKNDIQ | FWNSRQSLEG | LSVRSVFFGV | FQSFVVLLYI | LDNETNFVVQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSVFIGVLID | LWKITKVMDV | RLDREHRVAG | IFPRLSFKDK | STYIESSTKV | YDDMAFRYLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| WILFPLLGCY | AVYSLLYLEH | KGWYSWVLSM | LYGFLLTFGF | ITMTPQLFIN | YKLKSVAHLP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WRMLTYKALN | TFIDDLFAFV | IKMPVMYRIG | CLRDDVVFFI | YLYQRWIYRV | DPTRVNEFGM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGEDPTAAAP | VAEVPTAAGA | LTPTPAPTTT | TATREEASTS | LPTKPTQGAS | SASEPQEAPP |
| KPAEDKKKD |