O75907
Gene name |
DGAT1 |
Protein name |
Diacylglycerol O-acyltransferase 1 |
Names |
ACAT-related gene product 1, Acyl-CoA retinol O-fatty-acyltransferase, ARAT, Retinol O-fatty-acyltransferase, Diglyceride acyltransferase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8694 |
EC number |
2.3.1.20: Transferring groups other than amino-acyl groups |
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
434 variants for O75907
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1588689245 RCV001007932 |
2 | G>missing | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660629 RCV001584520 rs782577883 RCV002252199 |
210 | S>missing | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001871823 CA4936939 RCV001331727 rs150434452 |
212 | R>C | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4936835 rs373363244 RCV001331728 |
269 | R>C | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000988127 rs1554847435 CA372611513 RCV001858686 |
280 | R>* | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
gnomAD ClinGen ClinVar dbSNP |
|
RCV000201459 CA279287 rs863225093 |
295 | L>P | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000988126 rs1200919286 |
297 | Q>missing | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250059 rs374729844 |
358 | R>P | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372607900 rs1588680049 RCV000844891 |
437 | Q>R | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_082141 | 458 | W>del | DIAR7; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000599300 RCV002463455 rs1554847009 |
488 | A>missing | Congenital diarrhea 7 with exudative enteropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554848831 CA372613587 |
2 | G>V | No |
ClinGen Ensembl |
|
|
rs1000216326 CA372613562 |
6 | S>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1000216326 CA187671704 |
6 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1220548345 CA372613552 |
8 | R>W | No |
ClinGen TOPMed |
|
|
rs1554848827 CA372613546 |
9 | R>C | No |
ClinGen gnomAD |
|
|
rs572761204 CA187671693 |
9 | R>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA372613540 rs1554848824 |
10 | R>L | No |
gnomAD ClinGen |
|
|
CA187671689 rs1023036507 |
10 | R>W | No |
ClinGen Ensembl |
|
|
CA372613529 rs1346485172 |
12 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554848820 CA372613524 |
13 | G>W | No |
gnomAD ClinGen |
|
|
rs1440005282 CA372613511 |
15 | R>Q | No |
ClinGen TOPMed |
|
|
rs1232613286 CA372613501 |
17 | S>T | No |
ClinGen TOPMed |
|
|
CA4937155 rs782451896 |
18 | S>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372613494 rs1554848814 |
18 | S>N | No |
ClinGen Ensembl |
|
|
rs1588689188 CA372613492 |
18 | S>R | No |
Ensembl ClinGen |
|
|
CA372613464 rs1395990904 |
23 | G>R | No |
TOPMed ClinGen |
|
|
CA372613460 rs1554848812 |
23 | G>V | No |
ClinGen gnomAD |
|
|
rs1564634782 CA372613452 |
25 | A>T | No |
ClinGen Ensembl |
|
|
CA372613446 rs1421743680 |
26 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1554848809 CA372613435 |
27 | A>V | No |
gnomAD ClinGen |
|
|
rs1352523419 CA372613418 |
30 | E>K | No |
ClinGen TOPMed |
|
|
CA372613406 rs1554848804 |
31 | V>G | No |
ClinGen Ensembl |
|
|
rs1012018639 CA187671686 |
31 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1339503278 CA372613403 |
32 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1299125683 CA372613404 |
32 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA372613398 rs1215640737 |
33 | D>N | No |
TOPMed ClinGen |
|
|
CA372613375 rs1272967962 |
36 | A>V | No |
TOPMed ClinGen |
|
|
CA372613354 rs1588689113 |
40 | V>M | No |
ClinGen Ensembl |
|
|
CA372613339 rs1254033214 |
42 | A>D | No |
TOPMed gnomAD ClinGen |
|
|
CA187671681 rs896359924 |
46 | A>P | No |
ClinGen Ensembl |
|
|
CA187671680 rs1056778125 |
46 | A>V | No |
Ensembl ClinGen |
|
|
rs1554848797 CA372613307 |
47 | P>L | No |
ClinGen gnomAD |
|
|
rs1192022279 CA372613302 |
48 | A>G | No |
ClinGen TOPMed |
|
|
rs1192022279 CA372613301 |
48 | A>V | No |
TOPMed ClinGen |
|
|
rs1475811871 CA372613300 |
49 | P>A | No |
ClinGen TOPMed |
|
|
CA4937151 rs781837106 |
50 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4937152 rs781837106 |
50 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA187671672 rs564043345 |
51 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA372613289 rs564043345 |
51 | P>S | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA372613284 rs1554848794 |
52 | N>D | No |
gnomAD ClinGen |
|
|
rs1393465924 CA372613281 |
52 | N>S | No |
TOPMed ClinGen |
|
|
CA372613252 rs1554848793 |
56 | D>G | No |
gnomAD ClinGen |
|
|
rs754699005 CA187671671 |
58 | G>S | No |
TOPMed ClinGen |
|
|
rs1319932149 CA372613227 |
60 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
CA372613223 rs1326468776 |
61 | S>G | No |
TOPMed ClinGen |
|
|
CA187671656 rs900239238 |
62 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs930349884 CA187671669 |
62 | G>R | No |
ClinGen Ensembl |
|
|
rs1038824413 CA187671648 |
63 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372613200 rs1554848786 |
64 | W>L | No |
ClinGen gnomAD |
|
|
rs1554848784 CA372613185 |
66 | L>P | No |
ClinGen gnomAD |
|
|
CA4937128 rs781879438 |
68 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA187668892 rs947736352 |
68 | C>G | No |
ClinGen Ensembl |
|
|
CA4937127 rs376209496 |
70 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782106785 CA4937126 |
70 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA187668870 rs139748401 |
72 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA372613108 rs940805896 |
75 | L>F | No |
ClinGen gnomAD |
|
|
CA372613094 rs1210721884 |
77 | S>I | No |
TOPMed gnomAD ClinGen |
|
|
CA372613095 rs1210721884 |
77 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1449869280 CA372613090 |
78 | S>P | No |
TOPMed ClinGen |
|
|
rs782421322 CA4937121 |
83 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs782002327 CA4937119 |
85 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs189862978 CA4937118 |
88 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372612993 rs1588685465 |
92 | C>G | No |
ClinGen Ensembl |
|
|
CA4937117 rs782205654 |
93 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372612982 rs782205654 |
93 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248515808 CA372612985 |
93 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1288363749 CA372612936 |
98 | L>W | No |
ClinGen TOPMed |
|
|
rs371984204 CA4937098 |
101 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782047240 CA372612912 |
102 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372612910 rs782036173 |
102 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4937096 rs782036173 |
102 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782047240 CA4937097 |
102 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588683583 CA372612908 |
103 | L>V | No |
Ensembl ClinGen |
|
|
rs782257835 CA4937094 |
105 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs1190139058 CA372612886 |
106 | E>G | No |
ClinGen TOPMed |
|
|
CA372612872 rs868936483 |
108 | L>I | No |
ClinGen Ensembl |
|
|
rs1554847800 CA372612862 |
109 | I>M | No |
ClinGen gnomAD |
|
|
CA4937075 rs781998256 |
111 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372612839 rs1374506621 |
111 | Y>H | No |
TOPMed ClinGen |
|
|
rs1588683268 CA372612775 |
120 | V>G | No |
Ensembl ClinGen |
|
|
rs1356774486 CA372612780 |
120 | V>L | No |
TOPMed ClinGen |
|
|
CA187667413 rs147412095 |
123 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA372612740 rs1554847758 |
126 | K>M | No |
gnomAD ClinGen |
|
|
rs782096599 CA4937073 |
127 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782328055 CA4937072 |
128 | P>H | No |
ExAC gnomAD ClinGen |
|
|
rs782328055 CA4937071 |
128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4937069 rs782038069 |
130 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs782259035 CA4937067 |
133 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372612692 rs1344634935 |
133 | A>V | No |
TOPMed ClinGen |
|
|
rs1554847752 CA372612677 |
136 | L>M | No |
gnomAD ClinGen |
|
|
rs1275283451 CA372612668 |
137 | V>A | No |
TOPMed ClinGen |
|
|
CA372612671 rs1554847749 |
137 | V>L | No |
ClinGen gnomAD |
|
|
rs369275636 CA4937065 |
138 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4937050 rs140443241 |
139 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781953720 CA4937048 |
140 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA4937047 rs150538509 |
141 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372612627 rs1474773496 |
142 | V>A | No |
TOPMed ClinGen |
|
|
rs1554847732 CA372612631 |
142 | V>I | No |
gnomAD ClinGen |
|
|
rs1554847728 CA372612605 |
146 | A>T | No |
ClinGen gnomAD |
|
|
CA372612595 rs1588683045 |
147 | A>G | No |
Ensembl ClinGen |
|
|
RCV001299994 rs782393632 CA4937044 |
148 | F>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1564631871 CA372612585 |
149 | Q>E | No |
ClinGen Ensembl |
|
|
CA372612582 rs1554847726 |
149 | Q>R | No |
ClinGen gnomAD |
|
|
rs1166286615 CA372612568 |
151 | E>G | No |
ClinGen TOPMed |
|
|
rs55907012 RCV000455264 CA4937042 RCV001517545 |
152 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372612555 rs1554847721 |
153 | R>C | No |
gnomAD ClinGen |
|
|
CA372612554 rs782459119 |
153 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4937041 rs782459119 |
153 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372612553 rs782459119 |
153 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372612547 rs1554847719 |
155 | A>T | No |
ClinGen gnomAD |
|
|
rs370746386 CA4937038 |
155 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1588682979 CA372612538 |
156 | V>G | No |
ClinGen Ensembl |
|
|
rs781894452 CA4937036 |
156 | V>M | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 157 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422641494 CA372612525 |
157 | G>S | No |
TOPMed ClinGen |
|
|
rs1554847676 CA372612519 |
158 | A>T | No |
ClinGen gnomAD |
|
|
rs1554847673 CA372612514 |
158 | A>V | No |
ClinGen gnomAD |
|
|
CA4937014 rs782534474 |
159 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs530727318 CA4937013 |
160 | T>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1439487383 CA372612498 |
161 | E>D | No |
TOPMed ClinGen |
|
|
CA372612503 rs1554847656 |
161 | E>Q | No |
ClinGen gnomAD |
|
|
rs1157034260 CA372612496 |
162 | Q>K | No |
TOPMed ClinGen |
|
|
CA4937012 rs563377054 |
163 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA372612482 rs1554847652 |
164 | G>R | No |
gnomAD ClinGen |
|
|
rs142277695 CA372612456 |
168 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4937010 rs375840448 |
168 | H>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144065666 CA4937008 |
169 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1305131804 CA372612445 |
170 | A>V | No |
TOPMed ClinGen |
|
|
rs1588682660 CA372612441 |
171 | N>T | No |
ClinGen Ensembl |
|
|
rs782041538 CA4937007 |
172 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372612425 rs1554847642 |
174 | T>P | No |
ClinGen gnomAD |
|
|
CA187667134 rs372303345 |
177 | C>R | No |
ESP TOPMed ClinGen |
|
|
rs139015645 CA372612385 |
180 | A>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4937003 rs782271176 |
180 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA4937002 rs139015645 |
180 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372612370 rs1397098169 |
183 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
CA4936995 rs782648879 |
185 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554847632 CA372612351 |
186 | V>G | No |
ClinGen gnomAD |
|
|
CA372612348 rs1554847629 |
187 | E>K | No |
ClinGen gnomAD |
|
|
CA372612343 rs1554847625 |
187 | E>V | No |
ClinGen gnomAD |
|
|
rs1564631641 CA372612337 |
188 | S>C | No |
ClinGen Ensembl |
|
|
rs1375938425 CA372612338 |
188 | S>P | No |
ClinGen TOPMed |
|
|
rs782798411 CA4936994 |
189 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4936992 rs782722986 |
190 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA187667056 rs994314695 |
192 | V>M | No |
Ensembl ClinGen |
|
|
CA372612300 rs1554847593 |
193 | G>S | No |
gnomAD ClinGen |
|
|
CA372612292 rs1275617500 |
194 | S>A | No |
ClinGen TOPMed |
|
|
rs1221343847 CA372612273 |
197 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA372612270 rs1554847582 |
198 | L>R | No |
ClinGen gnomAD |
|
|
rs368297805 CA4936951 |
200 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1554847579 CA372612246 |
201 | H>Q | No |
ClinGen gnomAD |
|
|
rs782481578 CA4936949 |
202 | T>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1588682296 CA372612245 |
202 | T>P | No |
ClinGen Ensembl |
|
|
CA4936948 rs781816553 |
203 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA4936946 rs782559118 |
204 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554847572 CA372612207 |
208 | L>I | No |
gnomAD ClinGen |
|
|
rs142970193 RCV001309677 CA4936945 |
209 | F>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138248019 CA4936943 |
210 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4936940 rs150434452 |
212 | R>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373569005 CA4936938 |
212 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4936936 rs782137876 |
213 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1455600 rs377729741 CA4936935 |
214 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4936933 rs782209618 |
217 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs782360151 CA4936934 |
217 | W>R | No |
ExAC ClinGen |
|
|
rs781947496 CA4936932 |
218 | C>F | No |
ExAC gnomAD ClinGen |
|
|
rs782313741 CA4936931 |
219 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA4936930 rs782303747 |
219 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782313741 CA372612138 |
219 | R>S | No |
ExAC gnomAD ClinGen |
|
|
COSM310540 rs782671953 CA4936929 |
220 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA372612131 rs1554847559 |
220 | R>T | No |
ClinGen gnomAD |
|
|
rs1285605631 CA372612128 |
221 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA187666743 rs890035654 |
222 | R>G | No |
TOPMed ClinGen |
|
|
CA372612121 rs1213164340 |
222 | R>K | No |
ClinGen TOPMed |
|
|
CA372612116 rs1554847558 COSM1132812 |
223 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4936928 rs782500416 |
224 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4936897 rs782452538 |
227 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372612059 rs1403139054 |
230 | K>R | No |
TOPMed ClinGen |
|
|
CA4936894 rs782148617 |
231 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936893 rs781875216 |
231 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782733856 | 231 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4936891 rs140478833 |
232 | A>T | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA4936890 rs782740287 |
233 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370182734 CA187666531 |
233 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1554847519 CA372612039 |
233 | S>R | No |
gnomAD ClinGen |
|
|
rs1554847518 CA372612029 |
235 | A>P | No |
ClinGen gnomAD |
|
|
CA4936889 rs782078569 |
235 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA187666502 rs935852307 |
236 | A>T | No |
ClinGen gnomAD |
|
|
rs1554847515 CA372612023 |
236 | A>V | No |
ClinGen gnomAD |
|
|
rs373467033 RCV001341598 CA4936887 |
238 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA372612012 rs1554847514 |
238 | P>S | No |
gnomAD ClinGen |
|
|
CA4936886 rs782161523 |
239 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4936884 rs782391605 |
241 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372611987 rs782238113 |
242 | S>I | No |
ExAC gnomAD ClinGen |
|
|
CA4936883 rs782238113 |
242 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4936882 rs146322937 |
243 | Y>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4936881 rs367844653 |
244 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs782569114 CA4936879 |
246 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1476738638 CA372611956 |
247 | L>V | No |
TOPMed ClinGen |
|
|
CA372611948 rs55962377 |
248 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000455982 RCV001510557 rs55962377 CA4936878 |
248 | T>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs55962377 CA372611949 |
248 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| rs782707652 | 250 | R>= | Variant assessed as Somatic; 5.697e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4936876 rs144473757 |
250 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144473757 CA372611938 |
250 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4936875 rs782187957 |
250 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4936874 rs782187957 |
250 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782043842 CA4936872 |
251 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4936850 rs781822558 |
252 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA372611916 rs1554847477 |
252 | L>P | No |
ClinGen gnomAD |
|
|
rs782501227 CA4936849 |
255 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782046312 CA4936848 |
255 | F>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782802515 CA4936846 |
256 | L>F | No |
ExAC gnomAD ClinGen |
|
|
RCV001302410 rs144983092 CA4936844 |
258 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782187728 CA4936842 |
260 | T>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372611751 rs1342245507 |
264 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs146196839 CA4936837 RCV000483585 |
266 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372611696 rs1218270729 |
267 | F>V | No |
ClinGen TOPMed |
|
|
rs1487655734 CA372611666 |
268 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs141523495 CA4936836 |
268 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4936834 rs139792712 |
269 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781791106 CA187666243 |
270 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4936833 rs781791106 |
270 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
rs782804473 CA4936832 |
271 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372611627 rs782804473 |
271 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782553235 CA4936831 |
272 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554847442 CA372611617 |
272 | R>H | No |
gnomAD ClinGen |
|
|
CA4936829 rs146155230 |
273 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4936830 rs781882807 |
273 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA4936826 rs782702737 |
274 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199537660 CA4936828 |
274 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4936825 rs782152635 |
275 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936824 rs376764170 |
276 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA187666228 rs1044230336 |
276 | R>H | No |
gnomAD ClinGen |
|
|
CA4936823 rs782383355 |
280 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs781969331 CA4936821 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936822 rs782247930 |
281 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333447982 CA372611498 |
282 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4936792 rs782250375 |
289 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA372610060 rs782349298 |
290 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936790 rs782349298 |
290 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588681427 CA372610006 |
293 | V>G | No |
ClinGen Ensembl |
|
|
CA4936788 rs782679330 |
293 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA372610001 rs1255944622 |
294 | G>R | No |
TOPMed ClinGen |
|
|
CA372609870 rs1554847371 |
299 | W>R | No |
ClinGen gnomAD |
|
|
rs782593895 CA4936767 |
301 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA4936764 rs782684202 |
303 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782541395 CA4936763 |
304 | I>L | No |
ExAC ClinGen |
|
|
CA4936762 rs781874038 |
304 | I>T | No |
ClinGen ExAC |
|
|
rs1002226053 CA187664686 |
305 | Q>* | No |
gnomAD ClinGen |
|
|
rs750514290 TCGA novel CA187664681 |
305 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed ClinGen |
|
CA4936761 rs782768563 |
306 | N>K | No |
ClinGen ExAC |
|
|
CA4936759 rs781830211 |
310 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1298473057 CA372609688 |
310 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1221062147 CA372609645 |
312 | K>N | No |
ClinGen TOPMed |
|
|
rs782751829 CA372609588 |
313 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs782751829 CA4936747 |
313 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1554847343 CA372609565 |
314 | M>T | No |
gnomAD ClinGen |
|
|
rs782508433 CA4936746 |
318 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782127562 CA187664632 |
318 | R>H | No |
ClinGen Ensembl |
|
|
CA372609493 rs1400043688 |
319 | I>V | No |
ClinGen TOPMed |
|
|
CA372609465 rs782019712 |
320 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA4936743 rs782473207 |
321 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781798132 CA4936742 |
322 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1315358048 CA372609441 |
322 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1588681106 CA372609399 |
325 | K>R | No |
ClinGen Ensembl |
|
|
CA4936738 rs782741298 |
326 | L>Q | No |
ClinGen ExAC gnomAD |
|
| rs143753756 | 327 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187664588 rs782806278 |
327 | A>G | No |
Ensembl ClinGen |
|
| TCGA novel | 330 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554847296 CA372609256 |
331 | H>R | No |
ClinGen gnomAD |
|
|
CA372609219 rs1157666041 |
333 | I>M | No |
TOPMed ClinGen |
|
|
CA372609232 rs1554847295 |
333 | I>V | No |
gnomAD ClinGen |
|
| TCGA novel | 334 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782741492 CA4936709 |
335 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs782090603 CA4936708 |
336 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936706 rs782321541 |
337 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4936705 rs149384210 |
337 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA372609164 rs782321541 |
337 | F>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372609135 rs1452388257 |
338 | F>L | No |
TOPMed ClinGen |
|
|
rs1554847292 CA372609142 |
338 | F>S | No |
gnomAD ClinGen |
|
|
rs782575471 RCV000486981 |
338 | F>missing | No |
ClinVar dbSNP |
|
|
rs782372012 CA4936703 |
339 | Y>F | No |
ExAC ClinGen |
|
|
CA4936701 rs782220518 |
340 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372609115 rs1379566453 |
340 | W>G | No |
TOPMed ClinGen |
|
|
CA372609063 rs1554847289 |
343 | H>D | No |
ClinGen gnomAD |
|
|
CA372609058 rs1554847288 |
343 | H>R | No |
ClinGen gnomAD |
|
|
rs782605020 CA4936700 |
346 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs372199680 CA4936698 |
349 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372608967 rs1554847284 |
350 | A>T | No |
ClinGen TOPMed |
|
|
rs1554847283 CA372608939 |
352 | L>P | No |
ClinGen gnomAD |
|
|
rs1015415172 CA187664448 |
353 | M>L | No |
ClinGen gnomAD |
|
|
rs1220974369 CA372608927 |
353 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372608919 rs1279269744 |
354 | Q>* | No |
TOPMed ClinGen |
|
|
rs782538538 CA4936696 |
354 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1004476805 CA187664430 |
357 | D>N | No |
Ensembl ClinGen |
|
|
CA4936695 rs374729844 |
358 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372608865 rs1554847278 |
358 | R>W | No |
gnomAD ClinGen |
|
|
CA4936693 rs782498938 |
361 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs138800445 CA372608814 |
362 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138800445 CA4936691 |
362 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4936692 rs781826408 |
362 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372608808 rs1554847271 |
363 | D>Y | No |
ClinGen gnomAD |
|
|
CA372608672 rs1245682495 |
368 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA4936662 rs782702763 |
370 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4936661 rs782156730 |
371 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1554847242 CA372608603 |
372 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4936660 rs782015251 |
374 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936659 rs782781880 |
375 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs1554847239 CA372608507 |
377 | W>* | No |
ClinGen gnomAD |
|
|
rs782118993 CA4936658 |
377 | W>R | No |
ExAC gnomAD ClinGen |
|
|
CA187664235 rs1802327 |
378 | N>K | No |
Ensembl ClinGen |
|
|
rs146441969 CA4936657 |
380 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4936656 rs782347377 |
381 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA4936655 rs782198587 |
385 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372608307 rs1554847202 |
388 | H>L | No |
ClinGen gnomAD |
|
|
rs782749127 CA4936636 |
388 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4936635 rs782087919 |
390 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554847198 CA372608289 |
391 | K>E | No |
ClinGen gnomAD |
|
|
rs1316105193 CA372608270 |
393 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4936634 rs372817613 |
395 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4936633 rs782164877 |
395 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936632 rs782164877 |
395 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs193169779 CA372608244 |
396 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs193169779 CA4936630 |
396 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs375843442 CA4936631 |
396 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1554847196 CA372608238 |
397 | G>S | No |
ClinGen gnomAD |
|
|
CA372608225 rs1286186671 |
398 | S>R | No |
ClinGen TOPMed |
|
|
rs782091446 CA4936629 |
399 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372608189 rs1554847192 |
402 | M>I | No |
gnomAD ClinGen |
|
|
CA372608194 rs1205104526 |
402 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372608195 rs1205104526 |
402 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs781948192 CA4936628 |
403 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4936627 rs782323808 |
404 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA4936626 rs782179106 |
405 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936624 rs377582872 |
406 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782641412 CA4936620 |
407 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA372608154 rs782641412 |
407 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1180732436 CA372608138 |
409 | L>P | No |
TOPMed ClinGen |
|
|
rs1554847183 CA372608133 |
410 | A>P | No |
gnomAD ClinGen |
|
|
CA372608132 rs1554847183 |
410 | A>T | No |
ClinGen gnomAD |
|
|
rs573410614 CA4936618 |
411 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| TCGA novel | 411 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453106665 CA372608115 |
412 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA4936615 rs781911802 |
413 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782802659 CA4936614 |
414 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4936613 rs782136994 |
414 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA372608101 rs782802659 |
414 | F>V | No |
ExAC gnomAD ClinGen |
|
|
rs1335759761 CA372608087 |
416 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs782116263 CA4936589 |
417 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1554847146 CA372608049 |
419 | V>L | No |
gnomAD ClinGen |
|
|
CA16605211 rs372051069 RCV000436889 |
420 | S>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782744860 CA4936587 |
421 | V>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554847144 CA372608034 |
421 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372608024 rs1554847140 |
422 | P>L | No |
ClinGen gnomAD |
|
|
CA4936584 rs782420668 |
424 | R>* | No |
ExAC gnomAD ClinGen |
|
|
rs782420668 CA372608010 |
424 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA372608008 rs782284944 |
424 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4936583 rs782284944 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588680098 CA372607990 |
426 | F>S | No |
ClinGen Ensembl |
|
|
CA187663961 rs782354909 |
427 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs147655123 CA4936582 |
427 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4936581 rs782381938 |
428 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372607969 rs1554847135 |
429 | W>G | No |
ClinGen gnomAD |
|
|
rs1554847132 CA372607957 |
430 | A>V | No |
ClinGen gnomAD |
|
|
CA372607942 rs369376240 |
432 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4936579 rs369376240 |
432 | T>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs918197083 CA187663941 |
433 | G>D | No |
TOPMed ClinGen |
|
|
rs1427058220 CA372607929 |
434 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554847124 CA372607927 |
434 | M>T | No |
gnomAD ClinGen |
|
|
CA372607902 rs1564630278 |
437 | Q>* | No |
Ensembl ClinGen |
|
|
CA372607884 rs1554847075 |
438 | I>V | No |
ClinGen gnomAD |
|
|
rs1554847073 CA372607874 |
439 | P>L | No |
ClinGen gnomAD |
|
|
rs782802480 CA4936547 |
439 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4936544 rs782395919 |
442 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367717255 CA4936542 |
444 | V>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782199338 CA4936540 |
446 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782420067 CA4936539 |
446 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs782420067 CA4936538 |
446 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372607818 rs782420067 |
446 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782199338 CA372607820 |
446 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4936536 rs140874999 |
448 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 448 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554847066 CA372607794 |
449 | Q>R | No |
ClinGen gnomAD |
|
|
CA372607788 rs868942419 |
450 | G>S | No |
ClinGen TOPMed |
|
|
rs781828606 CA4936534 |
450 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782542875 CA4936532 |
452 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782769518 CA372607764 |
453 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4936530 rs782769518 |
453 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs1345060234 CA372607768 |
453 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs984784208 CA187663607 |
455 | A>E | No |
ClinGen gnomAD |
|
|
rs1452091909 CA372607752 |
455 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1554847063 CA372607739 |
456 | A>V | No |
gnomAD ClinGen |
|
|
rs1554847060 CA372607733 |
457 | V>A | No |
ClinGen TOPMed |
|
|
rs782739596 CA4936527 |
458 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs1339186687 CA372607723 |
458 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1564630093 CA372607715 |
459 | L>P | No |
ClinGen Ensembl |
|
|
rs782201907 CA187663599 |
460 | S>L | No |
ClinGen gnomAD |
|
|
rs781932849 CA4936525 |
461 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4936524 rs782407267 |
461 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA372607690 rs1554847046 |
462 | I>M | No |
ClinGen gnomAD |
|
|
CA372607696 rs1554847048 |
462 | I>V | No |
ClinGen gnomAD |
|
|
rs781984067 CA4936522 |
463 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs782201166 CA4936520 |
464 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372607653 rs1224362971 |
467 | I>T | No |
TOPMed ClinGen |
|
|
rs782330158 CA4936518 |
468 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782689595 CA4936516 |
469 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 471 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372607624 rs1554847035 |
471 | M>V | No |
gnomAD ClinGen |
|
|
CA4936513 rs782605643 |
473 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1031073510 CA187663524 |
475 | D>E | No |
Ensembl ClinGen |
|
|
rs782726552 CA4936510 |
476 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA372607584 rs1554847030 |
476 | Y>H | No |
ClinGen gnomAD |
|
|
CA372607572 rs782526221 |
477 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543553010 CA4936508 |
479 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372607542 rs1554847027 |
481 | Y>C | No |
ClinGen gnomAD |
|
|
CA4936505 rs200430497 RCV001729745 RCV000914877 |
485 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4936502 rs782043081 |
487 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372607505 rs868957042 |
487 | E>K | No |
ClinGen gnomAD |
|
|
CA4936501 rs782022899 |
488 | A>T | No |
ClinGen ExAC gnomAD |
1 associated diseases with O75907
[MIM: 615863]: Diarrhea 7, protein-losing enteropathy type (DIAR7)
A life-threatening disease characterized by severe, intractable, watery diarrhea. {ECO:0000269|PubMed:23114594, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A life-threatening disease characterized by severe, intractable, watery diarrhea. {ECO:0000269|PubMed:23114594, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O75907
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O75907 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.20 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| specific granule membrane | The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2-acylglycerol O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + 2-acylglycerol = CoA + diacylglycerol. |
| acyltransferase activity | Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). |
| diacylglycerol O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol. |
| identical protein binding | Binding to an identical protein or proteins. |
| O-acyltransferase activity | Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. |
| retinol O-fatty-acyltransferase activity | Catalysis of the reaction: acyl-CoA + retinol = CoA + retinyl ester. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| diacylglycerol metabolic process | The chemical reactions and pathways involving diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
| fatty acid homeostasis | Any process involved in the maintenance of an internal steady state of fatty acid within an organism or cell. |
| lipid storage | The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| long-chain fatty-acyl-CoA metabolic process | The chemical reactions and pathways involving long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more. |
| monoacylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of monoacylglycerol, any ester of glycerol in which any one of its hydroxyl groups has been acylated with a fatty acid, the other being non-esterified. |
| triglyceride biosynthetic process | The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
| very-low-density lipoprotein particle assembly | The non-covalent aggregation and arrangement of proteins and lipids in the liver to form a very-low-density lipoprotein particle. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8MK44 | DGAT1 | Diacylglycerol O-acyltransferase 1 | Bos taurus (Bovine) | PR |
| P35610 | SOAT1 | Sterol O-acyltransferase 1 | Homo sapiens (Human) | PR |
| O88908 | Soat2 | Sterol O-acyltransferase 2 | Mus musculus (Mouse) | PR |
| Q9Z2A7 | Dgat1 | Diacylglycerol O-acyltransferase 1 | Mus musculus (Mouse) | PR |
| Q9ERM3 | Dgat1 | Diacylglycerol O-acyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q9SLD2 | DGAT1 | Diacylglycerol O-acyltransferase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDRGSSRRR | RTGSRPSSHG | GGGPAAAEEE | VRDAAAGPDV | GAAGDAPAPA | PNKDGDAGVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGHWELRCHR | LQDSLFSSDS | GFSNYRGILN | WCVVMLILSN | ARLFLENLIK | YGILVDPIQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSLFLKDPYS | WPAPCLVIAA | NVFAVAAFQV | EKRLAVGALT | EQAGLLLHVA | NLATILCFPA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AVVLLVESIT | PVGSLLALMA | HTILFLKLFS | YRDVNSWCRR | ARAKAASAGK | KASSAAAPHT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSYPDNLTYR | DLYYFLFAPT | LCYELNFPRS | PRIRKRFLLR | RILEMLFFTQ | LQVGLIQQWM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VPTIQNSMKP | FKDMDYSRII | ERLLKLAVPN | HLIWLIFFYW | LFHSCLNAVA | ELMQFGDREF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YRDWWNSESV | TYFWQNWNIP | VHKWCIRHFY | KPMLRRGSSK | WMARTGVFLA | SAFFHEYLVS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VPLRMFRLWA | FTGMMAQIPL | AWFVGRFFQG | NYGNAAVWLS | LIIGQPIAVL | MYVHDYYVLN |
| YEAPAAEA |