O60478
PR
Gene name |
GPR137B (TM7SF1) |
Protein name |
Integral membrane protein GPR137B |
Names |
Transmembrane 7 superfamily member 1 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7107 |
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 O60478
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60478-F1 | Predicted | AlphaFoldDB |
383 variants for O60478
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1368958716 CA345351110 |
2 | R>W | No |
ClinGen gnomAD |
|
|
rs749494563 CA1469013 |
4 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs565925304 CA39651283 |
5 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1454634082 CA345351167 |
5 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs565925304 CA345351157 |
5 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA345351172 rs539406117 |
6 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1469014 rs539406117 |
6 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345351170 rs539406117 |
6 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1469015 rs774618115 |
7 | R>Q | No |
ClinGen ExAC |
|
|
rs980684610 CA39651290 |
7 | R>W | No |
ClinGen TOPMed |
|
|
rs1483814712 CA345351192 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1221406949 CA345351188 |
8 | P>S | No |
ClinGen TOPMed |
|
|
rs746374959 CA1469016 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 14 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345351250 rs1257018933 |
14 | G>D | No |
ClinGen gnomAD |
|
|
CA345351264 rs1461421128 |
15 | P>L | No |
ClinGen gnomAD |
|
|
CA1469017 rs772767355 CA345351277 |
16 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442300398 CA345351281 |
17 | E>K | No |
ClinGen gnomAD |
|
|
CA345351298 rs1194365514 |
18 | T>N | No |
ClinGen gnomAD |
|
|
rs1368982812 CA345351293 |
18 | T>P | No |
ClinGen Ensembl |
|
|
rs1474629400 CA345351312 |
19 | P>L | No |
ClinGen gnomAD |
|
|
rs1474629400 CA345351314 |
19 | P>Q | No |
ClinGen gnomAD |
|
|
CA1469018 rs776141730 |
20 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1179086040 CA345351336 |
21 | W>* | No |
ClinGen gnomAD |
|
|
rs761078393 CA1469019 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA39651346 rs936675599 |
25 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA345351398 rs936675599 |
25 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345351396 rs936675599 |
25 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345351427 rs1403843202 |
26 | N>K | No |
ClinGen gnomAD |
|
|
CA39651348 rs1052892101 |
27 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345351432 rs1052892101 |
27 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1469021 rs772894829 |
28 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs148299142 CA345351447 |
28 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148299142 CA1469020 |
28 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1469023 rs765907954 |
30 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs762551731 CA1469022 |
30 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1469024 rs751126020 |
35 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345351527 rs1224846771 |
35 | P>T | No |
ClinGen gnomAD |
|
|
CA345351567 rs1206307902 |
37 | V>M | No |
ClinGen gnomAD |
|
|
rs913969654 CA39651441 |
38 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345351589 rs913969654 |
38 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA39651460 rs192593903 |
39 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1469030 rs199613305 |
39 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1469028 rs199613305 |
39 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469029 rs199613305 |
39 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345351607 rs192593903 |
39 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA345351606 rs192593903 |
39 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1168972011 CA345351633 |
40 | Y>* | No |
ClinGen gnomAD |
|
|
rs777478871 CA1469031 |
40 | Y>C | No |
ClinGen ExAC gnomAD |
|
| rs768730454 | 40 | Y>L | Variant assessed as Somatic; 5.114e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768730454 | 40 | Y>T | Variant assessed as Somatic; 5.114e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39651477 rs1054740657 |
41 | V>L | No |
ClinGen Ensembl |
|
|
rs1197376023 CA345351680 |
43 | L>P | No |
ClinGen gnomAD |
|
|
rs370352319 CA1469032 |
44 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39651482 rs889285881 |
44 | G>R | No |
ClinGen TOPMed |
|
|
rs779126131 CA1469034 |
46 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1350471735 CA345351717 |
47 | V>D | No |
ClinGen gnomAD |
|
|
CA345351712 rs1398770160 |
47 | V>I | No |
ClinGen gnomAD |
|
|
rs772306964 CA345351721 |
48 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1469036 rs772306964 |
48 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA345351727 rs1406325079 |
49 | Y>H | No |
ClinGen gnomAD |
|
|
CA345351729 rs1280969786 |
49 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1571950957 CA345351742 |
50 | T>N | No |
ClinGen Ensembl |
|
|
rs899410834 CA39651511 |
51 | V>M | No |
ClinGen gnomAD |
|
|
rs899441796 CA39651515 |
52 | F>L | No |
ClinGen TOPMed |
|
|
CA345351782 CA345351781 rs993669585 |
53 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345351778 rs1558475249 |
53 | Y>C | No |
ClinGen Ensembl |
|
|
CA1469039 rs769030856 |
53 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA345351783 rs1216370671 |
54 | A>T | No |
ClinGen gnomAD |
|
|
CA1469040 rs776927315 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1220616765 CA345351810 |
55 | L>P | No |
ClinGen gnomAD |
|
|
rs773995899 CA345351834 CA1469043 |
57 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3943711 rs1184036221 CA345351881 |
60 | I>M | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs954789045 CA39651562 |
61 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA39651564 rs954789045 |
61 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA39651573 rs1017688108 |
64 | L>V | No |
ClinGen Ensembl |
|
|
CA39651577 rs371996042 |
65 | W>* | No |
ClinGen Ensembl |
|
|
rs1157833010 CA345351942 |
67 | V>L | No |
ClinGen gnomAD |
|
|
rs1478231266 CA345351949 |
68 | L>Q | No |
ClinGen TOPMed |
|
|
CA345351954 rs1366037632 |
69 | R>C | No |
ClinGen gnomAD |
|
|
CA345351953 rs1366037632 |
69 | R>G | No |
ClinGen gnomAD |
|
|
CA1469046 rs759008318 |
69 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769503191 CA39651617 |
71 | R>C | No |
ClinGen Ensembl |
|
|
CA1469047 rs11550690 |
71 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs752609095 CA1469049 |
72 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs989882835 CA39651639 |
73 | K>E | No |
ClinGen Ensembl |
|
|
rs763949225 CA1469050 |
73 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391494687 CA345352002 |
74 | R>Q | No |
ClinGen gnomAD |
|
|
CA39651682 rs552590131 |
75 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345352023 rs1238033860 |
76 | S>R | No |
ClinGen TOPMed |
|
|
rs1451744045 CA345352043 |
78 | Q>* | No |
ClinGen gnomAD |
|
|
CA1469052 rs757090723 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs199906272 CA1469053 |
79 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750693836 CA1469054 |
80 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA345352072 rs1198899860 |
81 | F>V | No |
ClinGen TOPMed |
|
|
rs758525493 CA1469055 |
82 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469059 rs187280347 |
85 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769100993 CA1469058 |
85 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs769100993 CA345352116 |
85 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA345352117 rs1213221218 COSM1340341 |
85 | C>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748393621 CA1469060 |
86 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs969205095 CA39651753 |
88 | W>* | No |
ClinGen TOPMed |
|
|
rs1189015920 CA345352144 |
88 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345352145 rs1189015920 |
88 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1455045384 CA345352165 |
89 | A>V | No |
ClinGen TOPMed |
|
|
CA1469062 rs773945482 |
90 | S>C | No |
ClinGen ExAC |
|
|
CA345352186 rs1367554308 |
92 | R>L | No |
ClinGen gnomAD |
|
|
rs1367554308 CA345352184 |
92 | R>P | No |
ClinGen gnomAD |
|
|
rs1397577120 CA345352204 |
94 | V>A | No |
ClinGen gnomAD |
|
|
CA39651781 rs369476831 |
95 | L>F | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 96 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345352232 rs1385570882 |
97 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 97 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345352229 rs1385570882 |
97 | S>T | No |
ClinGen TOPMed gnomAD |
|
| rs751387259 | 97 | S>missing | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242014637 CA345352249 |
98 | F>L | No |
ClinGen TOPMed |
|
|
rs927780202 CA345352257 |
99 | Y>C | No |
ClinGen gnomAD |
|
|
rs927780202 CA39651793 |
99 | Y>S | No |
ClinGen gnomAD |
|
|
CA1469067 rs771541062 |
100 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs939171627 CA39651800 |
101 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA39651807 rs958217773 |
104 | V>L | No |
ClinGen TOPMed |
|
|
CA39651813 rs988134593 |
105 | A>E | No |
ClinGen TOPMed |
|
|
CA345352334 rs1307348832 |
106 | A>S | No |
ClinGen TOPMed |
|
|
CA345352338 rs1317428865 |
106 | A>V | No |
ClinGen gnomAD |
|
|
CA1469069 rs149958426 |
107 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243705677 CA345352356 |
108 | S>* | No |
ClinGen gnomAD |
|
|
rs1462557364 CA345352361 |
109 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1469070 rs763884642 |
109 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1469072 rs768692866 |
110 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469073 rs765168005 |
110 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469074 rs750640487 |
110 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469076 rs766551854 |
111 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1420989425 CA345352382 |
111 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1469078 rs374080768 |
117 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1469079 rs781511012 |
118 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345352457 rs781511012 |
118 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384255003 CA345352470 |
119 | C>Y | No |
ClinGen gnomAD |
|
|
rs201834450 CA39651842 |
120 | F>L | No |
ClinGen 1000Genomes |
|
|
CA345352497 rs1276590157 |
121 | P>L | No |
ClinGen gnomAD |
|
|
rs1276590157 CA345352496 |
121 | P>R | No |
ClinGen gnomAD |
|
|
rs1340072902 CA345352510 |
122 | V>G | No |
ClinGen gnomAD |
|
|
rs916310801 CA39651846 |
122 | V>L | No |
ClinGen TOPMed |
|
|
CA345352539 rs1176268881 |
125 | Q>K | No |
ClinGen TOPMed |
|
|
rs142787025 TCGA novel CA1469080 |
127 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ExAC gnomAD |
|
rs1325592622 CA345352596 |
129 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA39651887 rs879394520 |
129 | L>R | No |
ClinGen Ensembl |
|
|
CA345352626 rs1208013043 |
132 | M>I | No |
ClinGen gnomAD |
|
|
CA345352648 rs1255323430 |
134 | L>W | No |
ClinGen gnomAD |
|
|
rs1270075356 CA345352654 |
135 | Y>H | No |
ClinGen TOPMed |
|
|
rs148623172 CA39651892 |
137 | T>M | No |
ClinGen ESP gnomAD |
|
|
CA345352681 rs1486099057 |
137 | T>P | No |
ClinGen gnomAD |
|
|
CA345357396 rs1571978522 |
139 | V>G | No |
ClinGen Ensembl |
|
|
rs1348325379 CA345357397 |
140 | I>L | No |
ClinGen gnomAD |
|
|
rs898718603 CA39672746 |
142 | K>E | No |
ClinGen Ensembl |
|
|
CA1469104 rs376888083 |
148 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768015721 CA1469105 |
149 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995680058 CA39672754 |
150 | E>V | No |
ClinGen TOPMed |
|
|
CA345357506 rs1209219105 |
151 | L>F | No |
ClinGen gnomAD |
|
|
CA1469106 rs147805876 |
152 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773285461 CA1469109 |
155 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1469108 rs370261390 |
155 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774270458 CA1469129 |
156 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759665840 CA1469131 |
157 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469130 rs759665840 |
157 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1469133 rs760709112 |
160 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs964787675 CA39678597 |
161 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345359351 rs764184387 |
162 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345359327 rs1333598846 |
162 | S>P | No |
ClinGen gnomAD |
|
|
CA1469134 rs764184387 |
162 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1469135 rs754308635 |
163 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1010935679 CA39678614 |
165 | I>V | No |
ClinGen TOPMed |
|
|
CA39678615 rs765503307 |
166 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469138 rs191392864 |
167 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345359485 rs1446987576 |
168 | V>I | No |
ClinGen gnomAD |
|
|
CA345359522 rs1205343776 |
170 | L>R | No |
ClinGen TOPMed |
|
|
rs1277867387 CA345359550 |
172 | V>A | No |
ClinGen TOPMed |
|
|
CA1469140 rs767237270 |
175 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39678633 rs927863075 |
176 | C>Y | No |
ClinGen Ensembl |
|
|
CA345359653 rs1323624950 |
178 | V>M | No |
ClinGen gnomAD |
|
|
rs752419599 CA1469141 |
179 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1469143 rs147078955 |
182 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 184 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571988236 CA345359813 |
185 | W>G | No |
ClinGen Ensembl |
|
|
CA1469145 rs749234684 |
187 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430153948 CA345359870 |
188 | K>R | No |
ClinGen gnomAD |
|
|
CA345359898 rs1357747487 |
189 | V>D | No |
ClinGen TOPMed |
|
|
CA345359896 rs1571988257 |
189 | V>F | No |
ClinGen Ensembl |
|
|
CA345359937 rs1174296382 |
191 | V>I | No |
ClinGen gnomAD |
|
|
CA345359963 rs1398807982 |
192 | S>F | No |
ClinGen TOPMed |
|
|
rs778730851 CA1469148 |
193 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1469149 rs745612968 |
194 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345359975 rs1362074631 |
194 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1362074631 CA345359974 |
194 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1469150 rs771797083 |
195 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469151 rs775645450 |
196 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372619566 CA1469152 |
200 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570579053 CA1469154 |
201 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1469157 rs773621305 |
202 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345360060 rs3736902 |
202 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345360053 rs773621305 |
202 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138713952 CA1469159 |
203 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345360086 rs1404735299 |
205 | C>Y | No |
ClinGen gnomAD |
|
|
CA39678691 rs918273194 |
207 | V>A | No |
ClinGen Ensembl |
|
|
rs772880415 CA1469162 |
207 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA1469163 rs763685498 |
208 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs138499620 CA1469164 |
209 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1037884005 CA39678720 |
212 | C>* | No |
ClinGen TOPMed |
|
|
rs770617342 CA39678711 |
212 | C>F | No |
ClinGen TOPMed |
|
|
CA39678706 rs770617342 |
212 | C>Y | No |
ClinGen TOPMed |
|
|
rs778872558 CA1469166 |
214 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345360211 rs1403801563 |
218 | K>E | No |
ClinGen TOPMed |
|
|
rs1571988500 CA345360231 |
219 | M>I | No |
ClinGen Ensembl |
|
|
rs758194731 CA345360223 |
219 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345360229 rs1571988491 |
219 | M>T | No |
ClinGen Ensembl |
|
|
rs758194731 CA1469168 |
219 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256370561 CA345360241 |
220 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA345360256 rs1208446394 |
222 | A>P | No |
ClinGen gnomAD |
|
|
CA1469170 rs747215426 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345360335 rs1320950102 |
229 | K>E | No |
ClinGen gnomAD |
|
|
CA345360850 rs1259947246 |
230 | G>D | No |
ClinGen gnomAD |
|
|
rs759943159 COSM533565 CA1469197 |
231 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA39679689 rs777123792 |
232 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1469199 rs771081038 |
233 | V>M | Variant assessed as Somatic; 5e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185021411 CA345360924 |
234 | C>Y | No |
ClinGen gnomAD |
|
|
CA345361023 rs764786693 |
238 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764786693 CA1469201 |
238 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1398753370 CA345361053 |
239 | I>M | No |
ClinGen gnomAD |
|
|
CA345361056 rs1465500786 |
240 | G>S | No |
ClinGen gnomAD |
|
|
rs267598428 CA39679725 |
242 | T>I | No |
ClinGen Ensembl |
|
|
rs762450998 CA1469203 |
243 | V>M | No |
ClinGen ExAC |
|
|
CA1469204 rs766261452 |
244 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1394622892 CA345361127 |
244 | I>M | No |
ClinGen gnomAD |
|
|
CA345361168 rs1571990103 |
248 | T>P | No |
ClinGen Ensembl |
|
|
rs1327195786 CA345361180 |
249 | S>P | No |
ClinGen gnomAD |
|
|
CA1469206 rs148458111 |
250 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1469205 rs751518401 |
250 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322901880 CA345361217 |
252 | C>S | No |
ClinGen TOPMed |
|
|
rs780888709 CA1469207 |
253 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1256491880 CA345361260 |
254 | N>S | No |
ClinGen gnomAD |
|
|
CA1469208 rs752959912 |
256 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756349500 CA1469209 |
257 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778071067 CA1469210 |
258 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376648349 CA39679777 |
259 | S>L | No |
ClinGen ESP TOPMed |
|
|
rs1384782306 CA345361351 |
260 | F>L | No |
ClinGen TOPMed |
|
|
rs1420923137 CA345361418 |
263 | N>K | No |
ClinGen gnomAD |
|
|
CA1469213 rs139452644 |
264 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345361449 rs1361368491 |
265 | S>N | No |
ClinGen gnomAD |
|
|
CA345361458 rs772538280 |
265 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469216 COSM680038 rs775789454 |
266 | V>I | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345361478 rs1361420802 |
267 | H>R | No |
ClinGen gnomAD |
|
|
CA345361528 rs1276531016 |
270 | D>E | No |
ClinGen gnomAD |
|
|
rs1340000299 CA345361545 |
271 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1219853642 CA345361582 |
273 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231862694 CA345361606 |
274 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1469217 rs761110146 |
275 | N>D | No |
ClinGen ExAC |
|
|
rs1301928644 CA345361636 |
276 | V>I | No |
ClinGen gnomAD |
|
|
rs1313828972 CA345361674 |
278 | D>E | No |
ClinGen gnomAD |
|
|
CA345361685 rs1446207270 |
279 | Q>R | No |
ClinGen TOPMed |
|
|
CA345361854 rs1238023545 |
282 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359353423 CA345361884 |
285 | Q>H | No |
ClinGen TOPMed |
|
|
CA345361901 rs1411856617 |
288 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs368846995 CA1469251 |
288 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1469252 rs147776145 |
289 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171404528 CA345361911 |
290 | G>E | No |
ClinGen gnomAD |
|
|
rs202151463 CA1469255 |
292 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs202151463 CA39682235 |
292 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781602691 CA1469256 |
294 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1469257 rs748935079 |
294 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748935079 CA345361935 |
294 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770504628 CA1469258 |
297 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA345361953 rs1285623039 |
297 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345361951 rs1285623039 |
297 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA345361963 rs1232161672 |
299 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345361964 rs1232161672 |
299 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs139529003 COSM140404 CA1469259 |
301 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1469260 rs745313843 |
302 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1216108193 CA345361987 |
302 | E>V | No |
ClinGen gnomAD |
|
|
CA1469261 rs771642131 |
303 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1558490525 CA345362001 |
304 | L>* | No |
ClinGen Ensembl |
|
|
CA345362003 rs1212628531 |
304 | L>F | No |
ClinGen gnomAD |
|
|
CA345361997 rs1443394654 |
304 | L>I | No |
ClinGen gnomAD |
|
|
CA345362020 rs1264569375 |
307 | T>I | No |
ClinGen TOPMed |
|
|
CA1469265 rs373976925 |
308 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147708340 CA1469266 |
310 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761718187 CA1469267 |
312 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761718187 CA1469268 |
312 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142455477 CA1469269 |
314 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345362062 rs762913273 |
314 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469270 rs762913273 |
314 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147232381 CA1469271 |
317 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751998676 CA1469272 |
319 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs566583969 CA39682301 |
320 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1298416786 CA345362099 |
320 | K>R | No |
ClinGen gnomAD |
|
|
rs1341886674 CA345362110 |
321 | D>E | No |
ClinGen gnomAD |
|
|
rs1222957205 CA345362107 |
321 | D>G | No |
ClinGen TOPMed |
|
|
rs1216217465 CA345362113 |
322 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA345362111 rs1216217465 |
322 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1469290 rs769754962 |
325 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA39660780 rs929092444 |
329 | P>A | No |
ClinGen Ensembl |
|
|
rs758051106 CA1469291 |
330 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527975997 CA39660799 |
332 | G>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 332 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1469292 rs763295179 |
333 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469294 rs751591125 |
334 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1341467085 CA345350712 |
338 | Y>C | No |
ClinGen TOPMed |
|
|
CA1469297 CA1469296 rs373821559 COSM1340345 |
339 | F>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA1469299 rs756437891 |
341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA345350736 rs201754513 |
341 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201754513 CA1469298 |
341 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1469300 COSM1601948 rs191574434 |
344 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs750027184 CA1469302 |
344 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750027184 CA1469301 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779573930 CA1469303 |
349 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA345350890 rs1572013292 |
350 | D>G | No |
ClinGen Ensembl |
|
|
rs1308183941 CA345350877 |
350 | D>H | No |
ClinGen TOPMed |
|
|
CA1469305 rs138218694 |
351 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1406574036 CA345350937 |
352 | L>V | No |
ClinGen gnomAD |
|
|
CA345350970 rs1370848284 |
353 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1469306 rs781248307 |
353 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166468156 CA345350984 |
354 | W>G | No |
ClinGen TOPMed |
|
|
CA1469308 rs145077949 |
356 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1469307 rs145077949 |
356 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1038698358 CA39660942 |
356 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1238672246 CA345351033 |
357 | A>D | No |
ClinGen gnomAD |
|
|
rs1190305117 CA345351028 |
357 | A>T | No |
ClinGen TOPMed |
|
|
CA39660955 rs773126810 |
358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1469309 rs773126810 |
358 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997089893 CA39660952 |
358 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA345351049 rs1358612945 |
359 | Q>* | No |
ClinGen gnomAD |
|
|
rs1182623934 CA345351054 |
359 | Q>P | No |
ClinGen TOPMed |
|
|
rs1269375963 CA345351078 |
361 | L>F | No |
ClinGen gnomAD |
|
|
CA1469310 rs749041958 |
362 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs771127296 CA1469311 |
363 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA1469312 rs774459252 |
363 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA345351150 rs1467925995 |
364 | G>S | No |
ClinGen gnomAD |
|
|
rs751246182 CA1469345 |
366 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1226431785 CA345352003 |
366 | A>V | No |
ClinGen gnomAD |
|
|
CA345352036 rs1256433335 |
368 | D>G | No |
ClinGen gnomAD |
|
|
rs938985603 CA39663062 |
368 | D>N | No |
ClinGen TOPMed |
|
|
CA345352076 rs1256325415 |
370 | Y>C | No |
ClinGen gnomAD |
|
|
CA1469347 rs754745723 |
370 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1056495634 CA39663069 |
373 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1469349 rs149518435 |
373 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA39663072 rs1011975798 |
374 | Q>H | No |
ClinGen TOPMed |
|
|
CA345352161 rs1572016129 |
375 | Q>K | No |
ClinGen Ensembl |
|
|
rs753919251 CA39663073 |
376 | T>A | No |
ClinGen Ensembl |
|
|
rs755602796 CA345352227 |
378 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1469352 rs755602796 |
378 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA39663084 rs561603127 |
382 | Q>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs561603127 CA345352281 |
382 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1361360366 CA345352299 |
383 | A>T | No |
ClinGen gnomAD |
|
|
CA1469353 rs777726522 |
385 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749223510 CA1469354 |
386 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1164920003 CA345352364 |
387 | Q>* | No |
ClinGen TOPMed |
|
|
rs757052688 CA1469355 |
388 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778628846 CA1469357 |
390 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345352415 rs1231751503 |
390 | T>I | No |
ClinGen gnomAD |
|
|
rs1231751503 CA345352409 |
390 | T>N | No |
ClinGen gnomAD |
|
|
CA1469358 rs189463214 |
391 | L>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA1469359 rs772213355 |
392 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs547415313 CA1469360 |
393 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345352815 rs1376194932 |
394 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345352827 rs1239920373 |
396 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747037777 CA1469361 |
397 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192328419 CA345352863 |
398 | L>P | No |
ClinGen gnomAD |
|
|
rs1192328419 CA345352864 |
398 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1469363 rs777177782 |
399 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs200182944 CA1469362 |
399 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with O60478
3 regional properties for O60478
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Vicinal oxygen chelate (VOC) domain | 5 - 145 | IPR037523-1 |
| domain | Vicinal oxygen chelate (VOC) domain | 152 - 273 | IPR037523-2 |
| domain | Glyoxalase domain-containing protein 4, C-terminal | 155 - 270 | IPR043194 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| negative regulation of bone resorption | Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. |
| negative regulation of osteoclast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. |
| positive regulation of protein localization to lysosome | Any process that activates or increases the frequency, rate or extent of protein localization to lysosome. |
| positive regulation of TORC1 signaling | Any process that activates or increases the frequency, rate or extent of TORC1 signaling. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| regulation of macrophage activation | Any process that modulates the frequency or rate of macrophage activation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96N19 | GPR137 | Integral membrane protein GPR137 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPERPRPRG | SAPGPMETPP | WDPARNDSLP | PTLTPAVPPY | VKLGLTVVYT | VFYALLFVFI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YVQLWLVLRY | RHKRLSYQSV | FLFLCLFWAS | LRTVLFSFYF | KDFVAANSLS | PFVFWLLYCF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVCLQFFTLT | LMNLYFTQVI | FKAKSKYSPE | LLKYRLPLYL | ASLFISLVFL | LVNLTCAVLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTGNWERKVI | VSVRVAINDT | LFVLCAVSLS | ICLYKISKMS | LANIYLESKG | SSVCQVTAIG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VTVILLYTSR | ACYNLFILSF | SQNKSVHSFD | YDWYNVSDQA | DLKNQLGDAG | YVLFGVVLFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WELLPTTLVV | YFFRVRNPTK | DLTNPGMVPS | HGFSPRSYFF | DNPRRYDSDD | DLAWNIAPQG |
| 370 | 380 | 390 | |||
| LQGGFAPDYY | DWGQQTNSFL | AQAGTLQDST | LDPDKPSLG |