P29017
PR
Gene name |
CD1C |
Protein name |
T-cell surface glycoprotein CD1c |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:911 |
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
322 variants for P29017
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1557800135 CA342987324 |
2 | L>Q | No |
ClinGen Ensembl |
|
|
CA31201075 rs951256020 |
5 | Q>* | No |
ClinGen TOPMed |
|
|
CA342987363 rs1417453762 |
8 | L>P | No |
ClinGen Ensembl |
|
|
CA31201082 rs202155770 |
11 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342987389 rs1390456067 |
13 | L>F | No |
ClinGen gnomAD |
|
|
rs1385911994 CA342987397 |
14 | P>L | No |
ClinGen gnomAD |
|
|
CA342987395 rs1385911994 |
14 | P>Q | No |
ClinGen gnomAD |
|
|
CA31201088 rs909714450 |
14 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 15 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342987416 rs746347936 |
16 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178669 rs779526383 |
16 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746347936 CA1178670 |
16 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911889067 CA31201104 |
17 | D>N | No |
ClinGen TOPMed |
|
| rs539975387 | 20 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251843917 CA342987483 |
20 | D>N | No |
ClinGen TOPMed |
|
|
CA1178672 rs775935078 |
21 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA31201132 rs775935078 |
21 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1178701 rs747339829 |
21 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178703 rs139113876 |
22 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139113876 CA1178702 |
22 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31202336 rs777054205 |
23 | Q>R | No |
ClinGen Ensembl |
|
|
rs1571143278 CA342987687 |
24 | E>D | No |
ClinGen Ensembl |
|
|
CA1178706 rs769347794 |
25 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178705 rs769347794 |
25 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM897686 CA1178708 rs770813555 |
26 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 27 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149639736 CA31202370 |
28 | F>S | No |
ClinGen ESP |
|
|
rs557074201 CA1178709 |
32 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1178710 rs759378088 |
33 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31202379 rs116683698 |
35 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 36 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178711 rs145844048 |
37 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384797190 CA342987812 |
37 | V>F | No |
ClinGen TOPMed |
|
|
rs1483904339 CA342987822 |
38 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA342987835 rs1213606010 |
40 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1688836 rs201073562 CA31202401 |
41 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1178713 rs202092481 |
43 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765376042 CA1178714 |
43 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA31202418 rs868463748 |
45 | Q>* | No |
ClinGen Ensembl |
|
|
CA342987864 rs1557800764 |
45 | Q>L | No |
ClinGen Ensembl |
|
|
rs1181055462 CA342987878 |
47 | S>L | No |
ClinGen gnomAD |
|
|
rs1169893335 CA342987874 |
47 | S>P | No |
ClinGen TOPMed |
|
|
CA342987891 rs1449720425 |
49 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173411897 CA342987899 |
51 | D>N | No |
ClinGen gnomAD |
|
|
CA1178718 COSM1685840 rs752096647 |
52 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs145975773 CA1178720 |
54 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1178721 rs747846446 |
56 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA1178724 rs748834857 |
59 | D>G | No |
ClinGen ExAC |
|
|
CA1178723 rs114408627 |
59 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1178726 rs774331366 |
60 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1348656529 CA342987969 |
61 | E>K | No |
ClinGen gnomAD |
|
|
rs578161327 CA1178727 |
62 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752441422 CA31202489 |
63 | G>C | No |
ClinGen Ensembl |
|
|
rs1377408255 CA342987988 |
64 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1377408255 CA342987987 |
64 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs771906002 CA1178728 |
66 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA342988022 rs142171410 |
69 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1178729 rs142171410 |
69 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_031564 rs3138100 CA1178731 |
70 | N>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs531110102 CA1178732 COSM1601022 |
71 | W>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201167585 CA1178733 |
72 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1178735 rs752113068 |
74 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766559952 CA1178734 |
74 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1323932631 CA342988058 |
75 | N>H | No |
ClinGen TOPMed |
|
|
rs372428718 CA1178736 |
75 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342988089 rs1368576001 |
79 | E>K | No |
ClinGen TOPMed |
|
|
CA1178738 rs752963607 |
80 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA342988102 rs1309328455 |
80 | E>D | No |
ClinGen TOPMed |
|
|
rs777338198 CA342988117 |
83 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178740 rs777338198 |
83 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371860673 CA342988133 |
85 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA31202612 rs939761436 |
86 | L>* | No |
ClinGen TOPMed |
|
|
CA1178742 rs145638725 COSM107502 |
89 | R>C | skin Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375747674 CA1178743 |
89 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA342988164 rs1275594146 |
90 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320265744 CA342988175 |
91 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1272101380 CA342988204 |
95 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1280106236 CA342988206 |
96 | T>A | No |
ClinGen gnomAD |
|
|
rs1207917769 CA342988208 |
96 | T>N | No |
ClinGen TOPMed |
|
|
rs114534381 CA1178745 |
97 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775390310 CA1178746 |
98 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1178747 rs746822142 |
99 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1178748 rs768478897 |
101 | D>N | No |
ClinGen ExAC |
|
|
rs763197642 CA1178750 |
102 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178749 rs773633085 |
102 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178751 rs766576259 |
103 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs996742118 CA31202668 |
104 | S>R | No |
ClinGen Ensembl |
|
|
CA342988272 rs1395424015 |
106 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA342988273 rs1395424015 |
106 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA31202677 rs1049607859 |
106 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1463202312 CA342988276 |
107 | Y>D | No |
ClinGen gnomAD |
|
|
CA1178752 rs774520025 |
107 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs202223810 CA1178754 |
108 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202223810 CA342988287 |
108 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1178778 rs750070786 |
111 | P>H | No |
ClinGen ExAC |
|
|
COSM1688837 CA31203274 rs868151001 |
111 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs867887479 CA31203299 |
113 | E>K | No |
ClinGen gnomAD |
|
|
CA1178781 rs560975462 |
114 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1180327885 CA342988335 |
114 | V>I | No |
ClinGen gnomAD |
|
|
CA1178782 rs115959450 |
115 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342988343 rs1160426514 |
115 | Q>L | No |
ClinGen gnomAD |
|
|
rs1012327169 CA31203321 |
116 | V>M | No |
ClinGen Ensembl |
|
|
CA1178785 rs201448758 |
118 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342988362 rs201448758 |
118 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754910860 CA1178783 |
118 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1178784 rs201448758 |
118 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779059996 CA1178787 |
120 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA342988372 rs779059996 |
120 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1247824552 CA342988398 |
124 | S>P | No |
ClinGen TOPMed |
|
|
rs1005150918 CA31203373 |
125 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA342988413 COSM897690 CA1178791 rs761108555 |
126 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs775584477 CA1178790 |
126 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342988422 rs1237512044 |
128 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1178793 rs762204489 |
129 | E>G | No |
ClinGen ExAC |
|
|
rs778750254 CA31203383 |
129 | E>K | No |
ClinGen Ensembl |
|
|
CA342988440 rs1261893337 COSM424216 |
130 | G>D | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1233497444 CA342988442 |
131 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs939843817 COSM897691 CA31203418 |
131 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1453689834 CA342988471 |
135 | A>P | No |
ClinGen TOPMed |
|
|
rs1280903400 CA342988475 |
135 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1178796 rs769112361 |
137 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777045453 CA1178797 |
138 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1277122977 CA342988495 |
138 | G>V | No |
ClinGen gnomAD |
|
|
CA342988514 rs1249539644 |
141 | L>S | No |
ClinGen gnomAD |
|
|
CA342988524 rs1383778580 |
143 | S>G | No |
ClinGen TOPMed |
|
|
rs765575548 CA1178798 |
143 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1178799 rs750112457 |
144 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA342988541 rs1385386776 |
145 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1178801 rs765826564 |
147 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751036560 CA1178802 |
148 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1386593232 CA342988565 |
149 | W>* | No |
ClinGen TOPMed |
|
|
rs375298399 CA1178803 |
149 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163615119 CA342988575 |
150 | V>G | No |
ClinGen TOPMed |
|
|
CA1178804 rs781327520 |
150 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA31203454 rs771222792 |
151 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178805 rs771222792 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA342988586 rs1557801446 |
153 | P>T | No |
ClinGen Ensembl |
|
|
rs1387867258 CA342988595 |
154 | G>D | No |
ClinGen TOPMed |
|
|
rs1330411422 CA342988631 |
159 | A>G | No |
ClinGen gnomAD |
|
|
rs1330411422 CA342988632 |
159 | A>V | No |
ClinGen gnomAD |
|
|
rs777559090 CA1178807 |
160 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA31203459 rs1045058762 |
162 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA31203484 rs746365992 |
164 | H>L | No |
ClinGen Ensembl |
|
|
rs1226076867 CA342988676 |
166 | L>R | No |
ClinGen gnomAD |
|
|
CA342988707 rs1250587024 |
170 | Y>C | No |
ClinGen gnomAD |
|
|
rs1209810176 CA342988704 |
170 | Y>H | No |
ClinGen TOPMed |
|
|
CA31203493 rs905216602 |
172 | G>D | No |
ClinGen TOPMed |
|
|
CA31203487 rs1029113591 |
172 | G>S | No |
ClinGen gnomAD |
|
|
COSM290566 CA1178811 rs146158051 |
173 | V>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146158051 CA1178812 |
173 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768705274 CA1178813 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178814 rs777182596 |
177 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA342988755 rs1193080122 |
178 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178816 rs564937461 |
179 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31203583 rs912254103 |
181 | I>K | No |
ClinGen Ensembl |
|
|
CA1178817 rs773574801 |
181 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1178818 rs762541123 |
183 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178819 rs766092724 |
184 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557801526 CA342988801 |
185 | C>F | No |
ClinGen Ensembl |
|
|
rs763083931 CA31203624 |
186 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1178823 rs139538152 |
187 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1178822 rs139538152 |
187 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM897692 rs759928678 CA1178824 |
187 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA342988821 rs1385029416 |
189 | L>V | No |
ClinGen TOPMed |
|
|
CA31203672 rs763819494 |
192 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178826 rs763819494 |
192 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342988857 rs1334526324 |
195 | A>S | No |
ClinGen gnomAD |
|
|
CA342988865 rs1214523829 |
196 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA342988866 rs1214523829 |
196 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1275183793 CA342988868 |
197 | K>E | No |
ClinGen gnomAD |
|
|
rs1374022763 CA342988878 |
197 | K>N | No |
ClinGen TOPMed |
|
|
rs1173131689 COSM1648369 COSM87744 CA342988894 |
198 | M>I | lung pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756972442 CA1178829 |
198 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs756972442 CA1178828 |
198 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747223540 CA1178830 |
199 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747223540 CA342988910 |
199 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs781184826 CA1178832 |
200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1178833 rs748673410 |
201 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA342988952 rs1474698623 CA342988951 |
202 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770293197 CA1178834 |
203 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1178857 rs200926914 |
204 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1178860 rs768042167 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760282222 CA1178859 |
206 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1178864 rs761591081 |
209 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1178862 rs1553189900 |
209 | W>R | No |
ClinGen Ensembl |
|
|
CA342989112 rs1461714622 |
212 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1461714622 CA342989111 |
212 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342989115 rs1298911107 |
213 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1178866 rs144561206 |
213 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342989119 rs144561206 |
213 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31204112 rs957968420 |
214 | P>R | No |
ClinGen Ensembl |
|
|
rs762703287 CA1178867 |
214 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA342989129 rs1320912303 |
215 | S>G | No |
ClinGen TOPMed |
|
|
rs1302749251 CA342989195 |
219 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1557801794 CA342989204 |
220 | Q>K | No |
ClinGen Ensembl |
|
|
COSM254600 rs1161697564 CA342989213 |
221 | L>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA342989222 rs1188158151 |
222 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1178872 rs777648298 |
224 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777648298 CA342989233 |
224 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA342989234 rs1243604116 |
225 | C>S | No |
ClinGen TOPMed |
|
|
CA342989238 rs1203421721 |
225 | C>S | No |
ClinGen gnomAD |
|
|
CA342989245 rs992600148 |
226 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs992600148 CA31204156 |
226 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342989249 rs1458721293 |
227 | A>T | No |
ClinGen gnomAD |
|
|
CA342989254 rs1450918209 |
227 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA31204171 rs947848706 |
229 | G>D | No |
ClinGen gnomAD |
|
|
rs369535551 CA342989262 |
229 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369535551 CA1178874 |
229 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1178875 rs779452323 |
230 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342989270 rs746276859 |
230 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA31204193 rs980012146 |
231 | Y>H | No |
ClinGen TOPMed |
|
|
rs1372740586 CA342989292 |
233 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201219470 CA342989294 |
234 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201219470 CA1178881 |
234 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1178879 rs772544606 COSM1247661 |
234 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772544606 CA1178880 |
234 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31204224 rs754584129 |
236 | W>* | No |
ClinGen Ensembl |
|
|
rs1460750199 CA342989307 |
236 | W>L | No |
ClinGen gnomAD |
|
|
rs768221526 CA1178882 |
237 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761837821 CA342989322 |
239 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761837821 CA1178884 |
239 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA342989340 rs1469611454 |
241 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA342989339 rs1469611454 |
241 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs150425079 CA1178886 |
241 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268889238 CA342989352 |
243 | E>* | No |
ClinGen gnomAD |
|
|
CA342989360 rs1361699005 |
244 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178887 rs762791288 |
245 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1178889 rs376541578 |
246 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760750400 CA1178890 |
246 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178891 rs149354390 |
248 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1178892 rs149354390 |
248 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779613937 CA1178894 |
250 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1240218156 CA342989401 |
251 | H>Y | No |
ClinGen gnomAD |
|
|
rs867045352 CA342989412 |
252 | G>A | No |
ClinGen Ensembl |
|
|
rs867045352 CA31204311 COSM1335147 |
252 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs866382982 CA31204323 |
253 | D>N | No |
ClinGen Ensembl |
|
|
rs750954740 CA1178895 |
253 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA342989422 rs1571145691 |
254 | I>F | No |
ClinGen Ensembl |
|
|
rs758902960 CA1178896 |
256 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs146296717 CA1178898 |
257 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA31204396 rs899159182 |
258 | A>V | No |
ClinGen Ensembl |
|
|
rs1224613204 CA342989465 |
261 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1178899 rs768148459 CA1178900 |
262 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA1178901 rs139020586 |
265 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342989499 rs1463015334 |
266 | V>L | No |
ClinGen gnomAD |
|
|
CA31204417 rs3176969 |
267 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901306034 CA31204413 |
267 | I>T | No |
ClinGen TOPMed |
|
|
CA1178903 rs773196926 |
268 | L>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA31204445 rs746301692 |
272 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs3176971 CA31204432 |
272 | S>T | No |
ClinGen Ensembl |
|
|
rs111303778 CA31204462 |
274 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373456243 CA31204455 COSM229890 |
274 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA1178905 rs770723646 |
276 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178907 rs770048157 |
277 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773968611 CA1178906 |
277 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs375607782 CA1178908 |
281 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342989586 rs776891906 |
281 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178909 rs776891906 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115248892 CA1178910 RCV000907922 |
282 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000880720 CA1178913 rs139069182 |
283 | R>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs989408136 COSM897697 CA31204540 |
285 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1261175172 CA342989612 |
285 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1178914 rs766792421 |
287 | L>R | No |
ClinGen ExAC TOPMed |
|
|
rs1426916552 CA342989627 |
288 | G>R | No |
ClinGen TOPMed |
|
|
CA342989635 rs1426937842 |
289 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1190405883 CA342989645 |
290 | Q>H | No |
ClinGen gnomAD |
|
|
rs1258415181 CA342989648 |
291 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342989656 rs1557802105 |
292 | I>F | No |
ClinGen Ensembl |
|
|
rs751906751 CA1178915 |
292 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs147191023 CA1178916 |
293 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780763972 CA1178917 |
294 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780763972 CA1178918 |
294 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31204591 rs969251812 |
294 | L>R | No |
ClinGen Ensembl |
|
|
rs1024484957 CA31204602 |
295 | Y>H | No |
ClinGen TOPMed |
|
|
rs144494205 CA1178919 |
296 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
| rs114722992 | 297 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342989698 rs1194752409 |
297 | G>E | No |
ClinGen gnomAD |
|
|
CA31204608 rs982391642 |
297 | G>R | No |
ClinGen gnomAD |
|
|
CA1178943 VAR_031565 rs3138105 RCV000953430 |
300 | F>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770103816 CA1178945 |
302 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA31204978 rs3176972 |
303 | N>Y | No |
ClinGen Ensembl |
|
|
CA342989765 rs763179021 |
306 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763179021 CA1178947 |
306 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760028837 CA1178950 |
307 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774722047 CA1178949 |
307 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1178951 rs201300061 |
308 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342989785 rs1340402174 |
310 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1178952 rs753019882 |
310 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763785328 CA342989791 |
311 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763785328 CA1178954 |
311 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs760995206 COSM897698 CA1178953 |
311 | V>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA342989788 COSM388873 rs760995206 |
311 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA31205050 rs753476158 |
312 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756786391 CA342989794 |
312 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs756786391 CA1178956 |
312 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs753476158 CA1178955 |
312 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1178960 rs114356245 |
317 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758309265 CA1178959 |
317 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749452152 CA1178964 |
322 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342989855 rs749452152 |
322 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1178962 rs768553977 |
322 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs778204305 CA1178963 |
322 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA342989851 rs768553977 |
322 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs770926348 CA1178965 |
324 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs774439785 CA1178966 |
324 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759990916 CA1178967 |
326 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs763873383 CA31205116 |
327 | C>S | No |
ClinGen Ensembl |
|
|
rs772721870 CA1178994 |
328 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA342990013 rs1182033480 |
331 | D>N | No |
ClinGen gnomAD |
|
|
rs190457577 CA1178995 |
332 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with P29017
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| 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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| endogenous lipid antigen binding | Binding to an endogenous cellular lipid antigen. |
| exogenous lipid antigen binding | Binding to an exogenous lipid antigen (examples include microbial lipids and glycolipids). |
| glycolipid binding | Binding to a glycolipid, any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic group such as an acylglycerol, a sphingoid, a ceramide (N-acylsphingoid) or a prenyl phosphate. |
| lipopeptide binding | Binding to a lipopeptide, any of a group of organic compounds comprising two or more amino acids linked by peptide bonds and containing a nonprotein group consisting of a lipid or lipids. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| antigen processing and presentation, endogenous lipid antigen via MHC class Ib | The process in which an antigen-presenting cell expresses lipid antigen of endogenous origin in association with an MHC class Ib protein complex on its cell surface. Class Ib here refers to non-classical class I molecules, such as those of the CD1 family. |
| antigen processing and presentation, exogenous lipid antigen via MHC class Ib | The process in which an antigen-presenting cell expresses lipid antigen of exogenous origin in association with an MHC class Ib protein complex on its cell surface. Class Ib here refers to non-classical class I molecules, such as those of the CD1 family. |
| positive regulation of T cell mediated cytotoxicity | Any process that activates or increases the frequency, rate or extent of T cell mediated cytotoxicity. |
| T cell activation involved in immune response | The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4ACW4 | CD1D | Antigen-presenting glycoprotein CD1d | Pan troglodytes (Chimpanzee) | PR |
| P15813 | CD1D | Antigen-presenting glycoprotein CD1d | Homo sapiens (Human) | PR |
| Q9BZM4 | ULBP3 | UL16-binding protein 3 | Homo sapiens (Human) | PR |
| P55899 | FCGRT | IgG receptor FcRn large subunit p51 | Homo sapiens (Human) | PR |
| Q63493 | Cd1d | Antigen-presenting glycoprotein CD1d | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLFLQFLLLA | LLLPGGDNAD | ASQEHVSFHV | IQIFSFVNQS | WARGQGSGWL | DELQTHGWDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ESGTIIFLHN | WSKGNFSNEE | LSDLELLFRF | YLFGLTREIQ | DHASQDYSKY | PFEVQVKAGC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELHSGKSPEG | FFQVAFNGLD | LLSFQNTTWV | PSPGCGSLAQ | SVCHLLNHQY | EGVTETVYNL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IRSTCPRFLL | GLLDAGKMYV | HRQVRPEAWL | SSRPSLGSGQ | LLLVCHASGF | YPKPVWVTWM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RNEQEQLGTK | HGDILPNADG | TWYLQVILEV | ASEEPAGLSC | RVRHSSLGGQ | DIILYWGHHF |
| 310 | 320 | 330 | |||
| SMNWIALVVI | VPLVILIVLV | LWFKKHCSYQ | DIL |