Q5VYS4
Gene name |
MEDAG (AWMS3, C13orf33, MEDA4) |
Protein name |
Mesenteric estrogen-dependent adipogenesis protein |
Names |
Activated in W/Wv mouse stomach 3 homolog, hAWMS3, Mesenteric estrogen-dependent adipose 4, MEDA-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84935 |
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 Q5VYS4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5VYS4-F1 | Predicted | AlphaFoldDB |
304 variants for Q5VYS4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA387818393 rs964921245 |
2 | A>E | No |
ClinGen gnomAD |
|
|
rs964921245 CA247889754 |
2 | A>G | No |
ClinGen gnomAD |
|
|
rs776591666 CA6934906 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6934908 rs759626056 |
3 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759626056 CA6934907 |
3 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818396 rs1234686895 |
3 | G>R | No |
ClinGen gnomAD |
|
|
CA6934910 rs761746695 |
4 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466292541 CA387818400 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs761746695 CA387818404 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750189432 CA6934912 |
5 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247889755 rs750189432 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200214346 CA6934913 |
6 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6934914 rs765998379 |
7 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818428 rs1203343233 |
8 | P>L | No |
ClinGen TOPMed |
|
|
rs1203343233 CA387818427 |
8 | P>R | No |
ClinGen TOPMed |
|
|
rs753349582 CA6934915 |
9 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA387818439 rs1438066911 |
10 | A>D | No |
ClinGen gnomAD |
|
|
rs1221416232 CA387818434 |
10 | A>T | No |
ClinGen TOPMed |
|
|
CA387818450 rs1277004267 |
12 | P>L | No |
ClinGen gnomAD |
|
|
CA6934918 rs748624460 |
12 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224684966 CA387818453 |
13 | S>C | No |
ClinGen TOPMed |
|
|
rs758899551 CA6934919 |
13 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6934920 rs778021784 |
18 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818486 rs778021784 |
18 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6934921 rs778021784 |
18 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056580047 CA247889758 |
19 | S>F | No |
ClinGen TOPMed |
|
|
rs1231006195 CA387818494 |
20 | G>E | No |
ClinGen gnomAD |
|
|
rs771067374 CA6934922 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469422752 CA387818497 |
21 | E>K | No |
ClinGen gnomAD |
|
|
rs776912049 CA387818506 |
22 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6934923 rs776912049 |
22 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs71436423 CA6934924 |
23 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6934925 rs199670958 |
25 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163609052 CA387818526 |
25 | L>P | No |
ClinGen gnomAD |
|
|
rs1390775495 CA387818533 |
26 | W>* | No |
ClinGen gnomAD |
|
|
CA387818530 rs1337045637 |
26 | W>* | No |
ClinGen gnomAD |
|
|
CA6934926 rs774468841 |
28 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818546 rs1326417936 |
28 | C>Y | No |
ClinGen gnomAD |
|
|
rs761869378 CA6934927 |
30 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818557 rs1593501069 |
30 | C>S | No |
ClinGen Ensembl |
|
|
rs904771005 CA247889759 |
31 | E>A | No |
ClinGen TOPMed |
|
|
rs767436094 CA6934928 |
31 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818586 rs760451601 |
35 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA387818596 rs1269629919 |
36 | P>L | No |
ClinGen TOPMed |
|
|
rs1211910883 CA387818601 |
37 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA247889760 rs1044282570 |
38 | A>V | No |
ClinGen Ensembl |
|
|
CA387818608 rs1271138248 |
39 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1482812307 CA387818611 |
39 | Q>R | No |
ClinGen gnomAD |
|
|
CA387818626 rs759088171 |
42 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6934933 rs759088171 |
42 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs764760167 CA6934934 |
43 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752155046 CA387818646 |
45 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752155046 CA6934935 |
45 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA387818648 rs1187097973 |
46 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387818647 rs1187097973 |
46 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758844060 CA387818665 |
48 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387818668 rs778279697 |
49 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6934937 rs778279697 |
49 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6934938 rs751939702 |
50 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs757630646 CA6934939 |
51 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1376906195 CA387818687 |
52 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387818686 rs1376906195 |
52 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6934942 rs770099315 |
53 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6934940 rs200311232 |
53 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6934941 rs200311232 |
53 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA247889761 rs1047640126 |
54 | Q>H | No |
ClinGen Ensembl |
|
|
CA6934943 rs780299554 |
54 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341210773 CA387818704 |
55 | L>F | No |
ClinGen gnomAD |
|
|
rs749327526 CA6934944 |
56 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749327526 CA387818708 |
56 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206087428 CA387818720 |
58 | A>S | No |
ClinGen gnomAD |
|
|
CA6934945 rs9531945 VAR_030261 |
59 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1199858439 CA387818728 |
59 | R>T | No |
ClinGen gnomAD |
|
|
CA387818725 rs9531945 |
59 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773196246 CA6934946 |
60 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1425419597 CA387818735 |
60 | P>L | No |
ClinGen gnomAD |
|
|
rs760442815 CA6934947 CA6934948 |
61 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6934949 rs776372402 |
62 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs764811845 CA6934951 |
62 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6934950 rs776372402 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387818745 rs1438427115 |
63 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387818755 rs1263989582 |
64 | A>G | No |
ClinGen TOPMed |
|
|
rs1263989582 CA387818756 |
64 | A>V | No |
ClinGen TOPMed |
|
|
rs752208437 CA6934952 |
65 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1198039 rs1037808910 CA247889764 |
66 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA387818768 rs1566124350 |
67 | R>W | No |
ClinGen Ensembl |
|
|
CA387818775 rs1316348116 |
68 | G>E | No |
ClinGen gnomAD |
|
|
rs764571813 CA6934957 |
68 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6934956 rs764571813 |
68 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964600358 CA247889765 |
69 | G>A | No |
ClinGen TOPMed |
|
| rs745558596 | 69 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964600358 CA387818778 |
69 | G>D | No |
ClinGen TOPMed |
|
|
rs781711508 CA6934959 |
69 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA387818793 rs756415719 |
71 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs750765307 CA6934960 |
71 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387818795 rs552682755 |
72 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552682755 CA6934962 |
72 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA247889766 rs954836649 |
74 | G>D | No |
ClinGen Ensembl |
|
|
CA6934963 rs749394457 |
75 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA247889767 rs999737739 |
75 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs564558992 CA6934964 |
76 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387818820 rs564558992 |
76 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564558992 CA387818819 |
76 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA247889769 rs955749627 |
78 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1031639600 CA247889768 |
78 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1031639600 CA387818830 |
78 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA247889770 rs777619751 |
79 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746999388 CA387818835 |
79 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746999388 CA387818836 |
79 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746999388 CA6934966 |
79 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6934965 rs777619751 |
79 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199746106 CA247889771 |
81 | D>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA387818854 rs1287608706 |
82 | G>E | No |
ClinGen gnomAD |
|
|
CA387818850 rs868081002 |
82 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs868081002 CA247889772 |
82 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6934970 rs769506777 |
87 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA387818908 rs1332938649 |
90 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1386379216 CA387818919 |
92 | K>Q | No |
ClinGen gnomAD |
|
|
CA387818930 rs1301758239 |
93 | R>K | No |
ClinGen gnomAD |
|
|
CA247385414 rs921517854 |
94 | Y>H | No |
ClinGen TOPMed |
|
|
rs1221919868 CA387697533 |
96 | E>Q | No |
ClinGen gnomAD |
|
|
rs1266840140 CA387697563 |
100 | Y>C | No |
ClinGen gnomAD |
|
|
rs371697036 CA6934991 |
101 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387697575 rs1180488971 |
102 | D>H | No |
ClinGen gnomAD |
|
|
rs1251485173 CA387697594 |
104 | K>R | No |
ClinGen gnomAD |
|
|
rs1184932153 CA387697604 |
105 | D>E | No |
ClinGen gnomAD |
|
|
rs773922479 CA6934992 |
105 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761335981 CA6934993 |
106 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768204734 CA6934994 |
107 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150419121 CA247385421 |
109 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150419121 CA6934995 |
109 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA247385425 rs200213117 |
110 | I>M | No |
ClinGen gnomAD |
|
|
rs140189386 CA6934997 |
110 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1411635739 CA387697637 |
111 | L>* | No |
ClinGen gnomAD |
|
|
rs951032321 CA247385427 |
114 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6934998 rs754103414 |
114 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951032321 CA387697659 |
114 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387697676 rs1566127745 |
116 | L>W | No |
ClinGen Ensembl |
|
|
rs755243659 CA6934999 |
117 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6935002 rs765309979 |
123 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387697738 rs1483574502 |
125 | K>E | No |
ClinGen gnomAD |
|
| rs1418142218 | 126 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186854344 CA387697745 |
126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1004262664 CA247385436 |
127 | T>N | No |
ClinGen Ensembl |
|
|
rs759814885 CA6935019 |
130 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236229765 CA387697772 |
130 | E>K | No |
ClinGen gnomAD |
|
|
CA6935021 rs138327988 |
132 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138327988 CA6935020 |
132 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6935024 rs751592813 |
134 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs142057013 CA6935025 |
134 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 135 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6935027 rs753728863 |
135 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6935028 rs754712447 |
138 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs754712447 CA387698213 |
138 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6935029 rs189649245 |
139 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220367790 CA387698222 |
140 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387698228 rs1297399843 |
140 | R>S | No |
ClinGen Ensembl |
|
|
CA6935031 rs771810248 |
144 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777439221 CA6935032 |
145 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA247386197 rs376611703 |
148 | I>T | No |
ClinGen ESP gnomAD |
|
|
CA6935035 rs771537830 |
151 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776992738 CA6935037 |
153 | D>A | No |
ClinGen ExAC |
|
|
CA6935039 rs770026402 CA6935040 |
154 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759998015 CA6935038 |
154 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387698339 rs1456590434 |
156 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387698337 rs1409672991 |
156 | I>T | No |
ClinGen gnomAD |
|
|
rs1566129066 COSM1740031 CA387698345 |
157 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6935041 rs146990093 |
160 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6935043 rs147606667 |
165 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM946645 CA6935042 rs764239466 |
165 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1250857863 CA387698399 |
166 | L>F | No |
ClinGen TOPMed |
|
|
TCGA novel CA387698409 rs1194708488 |
167 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs759414279 CA387698425 |
168 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6935065 rs773303281 |
168 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6935066 rs759414279 |
168 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387698466 rs1411054074 |
174 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387698484 rs1440568514 |
176 | N>S | No |
ClinGen gnomAD |
|
|
rs1186253212 CA387698493 |
177 | F>S | No |
ClinGen gnomAD |
|
|
rs765200612 CA6935067 |
179 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6935069 rs758256977 |
180 | P>A | No |
ClinGen ExAC |
|
|
rs377025280 CA247386298 |
180 | P>Q | No |
ClinGen ESP gnomAD |
|
| rs1368498416 | 180 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 181 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6935075 rs780594359 |
187 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1356885842 CA387698655 |
191 | S>N | No |
ClinGen TOPMed |
|
|
COSM1322918 rs745329303 CA6935076 |
191 | S>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6935077 rs756580451 |
193 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6935079 rs749708186 |
195 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768983578 CA6935080 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387698782 rs1342822173 |
200 | A>E | No |
ClinGen gnomAD |
|
|
CA387698828 rs1166707987 |
204 | F>I | No |
ClinGen TOPMed |
|
|
rs774594489 CA6935081 |
204 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6935082 rs150178788 |
206 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387698881 rs1186357568 |
208 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387698882 rs1186357568 |
208 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387698898 rs1449640706 |
209 | G>W | No |
ClinGen gnomAD |
|
|
rs773177464 CA6935084 |
212 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs147350400 CA6935085 |
213 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6935088 rs762883125 |
214 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs149352249 CA387698962 |
214 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6935087 rs149352249 |
214 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374109967 CA6935089 |
215 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387698969 rs1566129358 |
215 | V>I | No |
ClinGen Ensembl |
|
|
CA6935090 rs751322843 |
217 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756878254 CA6935091 |
218 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310195345 CA387699058 |
221 | V>I | No |
ClinGen gnomAD |
|
|
CA247386325 rs943025022 |
224 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs767135524 CA6935092 |
226 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6935093 rs749965380 |
226 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1206300565 CA387699136 |
227 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1206300565 CA387699134 |
227 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1281000535 CA387699151 |
228 | S>N | No |
ClinGen TOPMed |
|
|
rs576074999 CA6935094 |
229 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387699192 rs1593511489 |
231 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 231 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187877068 CA387699210 |
232 | K>E | No |
ClinGen gnomAD |
|
|
rs955299409 CA247386331 |
233 | E>K | No |
ClinGen TOPMed |
|
|
CA387699243 rs1431795181 |
234 | T>A | No |
ClinGen gnomAD |
|
|
CA6935096 rs780585256 |
234 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247386340 rs963945772 |
235 | I>M | No |
ClinGen TOPMed |
|
|
CA6935098 rs754308782 |
235 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA247386336 rs911052266 |
235 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755436482 CA6935099 |
236 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387699254 rs1387958390 |
236 | K>T | No |
ClinGen gnomAD |
|
|
CA247386344 rs536772013 |
237 | L>F | No |
ClinGen 1000Genomes |
|
|
CA387699274 rs1490739359 |
239 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs138341583 CA6935100 |
239 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
rs748486713 CA6935102 |
242 | M>I | No |
ClinGen ExAC gnomAD |
|
| rs753872842 | 242 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387699311 rs1179230273 |
243 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6935103 rs772250763 |
245 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387699332 rs772250763 |
245 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974214495 CA247386353 |
246 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6935104 rs142828800 |
247 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6935105 rs747109926 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490977908 CA387699376 |
249 | R>K | No |
ClinGen TOPMed |
|
|
CA6935107 CA6935106 rs555397627 |
250 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387699414 rs1329217501 |
251 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372086987 CA6935108 |
253 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA247386363 rs902328285 |
254 | D>G | No |
ClinGen gnomAD |
|
|
CA6935109 rs768660202 |
254 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA387699460 rs768660202 |
254 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA6935110 rs376683172 |
255 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761660083 CA6935111 |
255 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387699525 rs181484496 |
258 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs181484496 CA6935114 |
258 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573642481 CA6935113 |
258 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1309306956 CA387699530 |
259 | V>I | No |
ClinGen Ensembl |
|
|
CA387699572 rs1593511644 |
261 | S>C | No |
ClinGen Ensembl |
|
|
rs1367681192 CA387699593 |
262 | R>S | No |
ClinGen gnomAD |
|
|
CA6935140 rs758793268 |
266 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6935139 COSM946648 rs758793268 |
266 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751918546 CA6935142 |
267 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387700198 rs1298349879 |
267 | D>G | No |
ClinGen TOPMed |
|
|
CA387700216 rs1166287390 |
268 | V>G | No |
ClinGen TOPMed |
|
|
CA387700203 rs1352444923 |
268 | V>I | No |
ClinGen TOPMed |
|
|
CA387700224 rs1475282812 |
269 | F>C | No |
ClinGen TOPMed |
|
|
CA387700218 rs757561985 |
269 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6935147 rs781564848 |
269 | F>L | No |
ClinGen ExAC |
|
|
rs757561985 CA6935144 |
269 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs745999526 CA6935148 |
270 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA697240863 rs1416990311 |
270 | N>R | No |
ClinGen TOPMed |
|
|
CA6935149 rs756193550 |
271 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756193550 CA6935150 |
271 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387700244 rs1195047190 |
271 | C>Y | No |
ClinGen TOPMed |
|
|
rs146086897 CA247386881 |
272 | N>D | No |
ClinGen ESP |
|
|
CA6935151 rs748145597 |
272 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760973126 CA247386884 |
273 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387700287 rs1593513586 |
275 | P>L | No |
ClinGen Ensembl |
|
|
rs1173712726 CA387700282 |
275 | P>T | No |
ClinGen gnomAD |
|
|
CA387700288 rs1358147873 |
276 | R>G | No |
ClinGen gnomAD |
|
|
CA387700291 rs1469991374 |
276 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA247386887 rs992261307 |
277 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1335558124 CA387700318 |
279 | L>P | No |
ClinGen TOPMed |
|
|
CA6935152 rs771854199 |
281 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6935153 rs773002689 |
283 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270083529 CA387700382 |
284 | L>S | No |
ClinGen gnomAD |
|
|
CA6935154 rs746739528 |
284 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1363292956 CA387700399 |
285 | A>V | No |
ClinGen gnomAD |
|
|
CA6935156 rs776243503 |
286 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6935158 rs764835720 |
288 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387700442 rs764835720 |
288 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6935159 rs774815996 |
289 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763531328 CA6935160 |
291 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6935161 rs764445175 |
292 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6935162 rs373323371 |
296 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242575063 CA387700583 |
297 | E>K | No |
ClinGen gnomAD |
|
|
rs1476355000 CA387700618 |
298 | T>I | No |
ClinGen gnomAD |
|
|
rs1424189479 CA387700628 |
299 | P>R | No |
ClinGen gnomAD |
|
|
rs1470169512 CA387700644 |
300 | N>K | No |
ClinGen gnomAD |
|
|
CA387700637 rs1168153693 |
300 | N>S | No |
ClinGen gnomAD |
|
|
rs1451894286 CA387700661 |
301 | Q>H | No |
ClinGen Ensembl |
|
|
CA387700646 rs1293477486 |
301 | Q>K | No |
ClinGen Ensembl |
|
|
TCGA novel rs1178104641 CA387700708 |
304 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
No associated diseases with Q5VYS4
No regional properties for Q5VYS4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5VYS4 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of fat cell differentiation | Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAACEPVA | RPSLTSISSG | ELRSLWTCDC | ELALLPLAQL | LRLQPGAFQL | SGDQLVVARP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GEPAAARGGF | NVFGDGLVRL | DGQLYRLSSY | IKRYVELTNY | CDYKDYRETI | LSKPMLFFIN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQTKKDTSKE | RTYAFLVNTR | HPKIRRQIEQ | GMDMVISSVI | GESYRLQFDF | QEAVKNFFPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GNEVVNGENL | SFAYEFKADA | LFDFFYWFGL | SNSVVKVNGK | VLNLSSTSPE | KKETIKLFLE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KMSEPLIRRS | SFSDRKFSVT | SRGSIDDVFN | CNLSPRSSLT | EPLLAELPFP | SVLESEETPN |
| QFI |