P41235
PR
Gene name |
HNF4A (HNF4, NR2A1, TCF14) |
Protein name |
Hepatocyte nuclear factor 4-alpha |
Names |
HNF-4-alpha, Nuclear receptor subfamily 2 group A member 1, Transcription factor 14, TCF-14, Transcription factor HNF-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3172 |
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
8 structures for P41235
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1PZL | X-ray | 210 A | A | 142-378 | PDB |
| 3CBB | X-ray | 200 A | A/B | 58-135 | PDB |
| 3FS1 | X-ray | 220 A | A | 148-377 | PDB |
| 4B7W | X-ray | 400 A | A/B/C/D | 142-377 | PDB |
| 4IQR | X-ray | 290 A | A/B/E/F | 55-377 | PDB |
| 6CHT | X-ray | 317 A | A/B/D/E/G/H/J/K/M/N/P/Q/S/T/V/W | 148-391 | PDB |
| 8C1L | X-ray | 200 A | A/B | 148-377 | PDB |
| AF-P41235-F1 | Predicted | AlphaFoldDB |
382 variants for P41235
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001137027 RCV001137028 RCV003148924 rs2063407237 |
19 | L>P | Maturity onset diabetes mellitus in young Familial hyperinsulinism Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199796094 RCV000764240 RCV003148845 CA9870157 RCV000711953 |
40 | T>M | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773661614 RCV003148903 CA9870159 RCV000992159 |
45 | G>D | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9870161 RCV001288636 RCV003148967 rs140143857 |
50 | A>V | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003148809 RCV000627652 rs1555813267 |
56 | V>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365894 rs2063496235 RCV001195383 |
56 | V>D | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003148940 RCV002558767 RCV001174366 rs561302824 CA9870173 |
66 | R>Q | Maturity onset diabetes mellitus in young Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16043128 RCV003148736 RCV000414001 rs1057517745 |
85 | R>Q | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA170773 rs587777732 RCV000193614 RCV000763446 RCV002408643 VAR_071951 COSM1731195 RCV000255966 RCV000144170 COSM1731196 COSM1731194 RCV000850560 |
85 | R>W | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Maturity onset diabetes mellitus in young liver Maturity-onset diabetes of the young type 1 FRTS4 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV002221271 rs369182343 RCV003148968 RCV001288637 CA9870181 |
88 | V>M | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000504202 RCV002282183 RCV000992160 CA409103974 RCV002285346 rs1555813319 |
89 | R>Q | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Maturity-onset diabetes of the young type 1 Hyperinsulinism due to HNF4A deficiency [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1385251852 RCV000754810 RCV003148857 |
90 | K>missing | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622730 CA409104024 RCV003148807 rs1555813342 |
96 | C>Y | Maturity onset diabetes mellitus in young Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003148755 RCV000495952 rs1131692187 CA409104032 |
97 | R>K | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA409104106 RCV003148764 RCV002481674 RCV001755765 RCV000517196 rs780813696 |
100 | R>W | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003148858 RCV000754819 rs1568724014 CA409104228 |
111 | Q>* | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030018 RCV000992162 rs193922471 |
116 | R>missing | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293543 rs2063517684 RCV003148973 |
129 | A>P | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447257 RCV002499506 CA9870225 rs377476335 RCV002285470 RCV001288638 |
130 | V>I | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Maturity-onset diabetes of the young type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000489797 rs1085307913 CA409105430 RCV002285340 |
134 | R>Q | Maturity-onset diabetes of the young type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs149611886 RCV003148944 RCV001198620 RCV002290632 CA9870228 |
136 | R>Q | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000711955 RCV001375546 CA120206 RCV000009792 RCV002453254 rs137853336 RCV001536085 VAR_004668 |
136 | R>W | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 MODY1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001521057 RCV000337755 RCV000280314 rs1800961 VAR_004669 CA153114 RCV002226673 RCV000445529 RCV002453432 RCV000117238 |
139 | T>I | Familial hyperinsulinism Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 Monogenic diabetes Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9870233 RCV003148906 RCV000992164 RCV002488089 rs780342162 |
142 | S>P | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs193922472 RCV000030019 RCV000484752 RCV002496458 CA213929 RCV001248909 |
143 | S>G | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA409105749 RCV003148771 RCV000520909 rs1555815158 |
157 | Q>* | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000009791 CA120194 RCV000516683 rs137853335 |
163 | R>* | Maturity-onset diabetes of the young type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV003148957 rs765237979 CA9870244 RCV001248996 |
163 | R>Q | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs368759794 RCV000711959 RCV003148849 CA9870271 RCV002477645 |
165 | I>V | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000030023 CA213951 RCV002326694 RCV000117239 RCV000340715 RCV000490471 rs142204928 RCV000516787 |
169 | V>I | Familial hyperinsulinism Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003148819 RCV000664159 rs760038979 COSM1533738 COSM1533737 COSM1533739 CA9870282 |
174 | G>S | lung Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Monogenic diabetes [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000992165 rs1427687409 COSM1592632 RCV003148907 CA409105926 COSM1027076 COSM1027077 |
175 | D>N | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002497011 RCV000522216 RCV003148769 rs142883089 CA9870286 |
177 | R>Q | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002222538 rs1280663753 RCV000501220 |
180 | K>missing | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001141898 rs779555087 RCV001143693 RCV003148800 CA9870289 RCV000585597 |
183 | S>G | Maturity onset diabetes mellitus in young Familial hyperinsulinism Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002334036 rs1555815393 CA409106015 RCV000623599 |
188 | C>* | Maturity onset diabetes mellitus in young Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003148799 rs1555815396 RCV000579276 CA409106057 |
194 | Q>* | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030024 CA213958 rs193922474 RCV003148628 |
207 | A>P | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771156648 RCV002482271 RCV001143694 CA9870297 RCV001143695 RCV003148936 |
210 | E>K | Maturity onset diabetes mellitus in young Familial hyperinsulinism Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1775879070 RCV001248997 RCV002272431 |
219 | L>M | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555816279 CA409106752 RCV000517726 RCV003148766 |
219 | L>P | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568735272 RCV003148852 CA409106762 RCV000711962 |
220 | L>R | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609462 RCV003148740 rs1060499693 RCV000449632 |
236 | S>T | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs202105574 RCV000681822 CA9870333 RCV003148825 |
242 | V>M | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000030026 rs193922476 RCV003148630 |
243 | L>missing | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555816642 RCV000517835 RCV002376954 |
264 | V>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002491490 RCV001174367 RCV002284467 CA9870370 rs139779712 VAR_010600 |
264 | V>M | Maturity-onset diabetes of the young type 1 Monogenic diabetes found in a patient with non-insulin-dependent diabetes mellitus; does not affect activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA409107447 rs1290868034 RCV001420860 RCV002382225 RCV000992166 |
267 | R>C | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000502655 RCV001755742 CA409107461 rs1555816654 |
269 | L>P | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA120182 RCV000009790 rs137853334 RCV001659688 |
277 | Q>* | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853334 RCV000504596 CA409107507 |
277 | Q>E | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001659732 RCV001420861 RCV001248910 CA213981 RCV000030030 rs193922477 |
278 | E>D | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003148820 rs1236613475 RCV000664160 CA409107542 |
282 | D>Y | Maturity onset diabetes mellitus in young Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000711964 rs1568736971 CA409107570 RCV003148854 |
285 | E>D | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010601 | 285 | E>Q | MODY1; results in loss of function [UniProt] | Yes | UniProt |
|
RCV002487615 RCV001249066 CA9870376 rs748714111 RCV000782229 RCV003148863 |
286 | Y>C | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002446763 RCV000445391 RCV002481356 RCV000517930 CA9870393 rs145902391 |
304 | D>N | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Maturity-onset diabetes of the young type 1 Monogenic diabetes [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001139379 RCV000779347 RCV003133587 CA9870396 rs371124358 RCV001526903 |
310 | R>Q | Familial hyperinsulinism Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA409108072 rs1191912908 RCV001248988 RCV000992167 |
312 | R>H | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA315413801 RCV003148941 rs920346355 RCV001174368 |
323 | I>V | Maturity onset diabetes mellitus in young Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001249093 RCV000517103 rs193922479 RCV000193933 RCV000030034 CA207744 |
331 | R>C | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Maturity-onset diabetes of the young type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000483537 CA9870414 RCV002285339 rs369429452 |
331 | R>H | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs369429452 RCV001249067 |
331 | R>L | Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA214003 rs193922480 RCV002509171 RCV000497992 RCV000766932 |
333 | R>C | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000711966 CA409108268 RCV000754815 RCV002369982 rs1375557127 |
333 | R>H | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1568741207 RCV000711950 CA409108340 RCV003148842 |
340 | L>Q | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990303 rs776489992 RCV001726408 RCV001197475 |
341 | L>missing | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002490833 rs776489992 RCV001268775 RCV000499584 |
341 | L>missing | Maturity-onset diabetes of the young type 1 Hyperinsulinism due to HNF4A deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001269161 rs2063786151 |
341 | L>P | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555817851 RCV000518071 RCV003148763 |
345 | Q>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853338 RCV000009796 CA120226 VAR_071952 |
373 | M>R | Maturity-onset diabetes of the young type 1 MODY1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2063787705 RCV003148964 RCV001288633 |
374 | L>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000711952 CA409108858 RCV003148844 rs1568741527 |
377 | G>R | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9870471 RCV003117802 rs201319115 RCV001174369 RCV003148942 |
379 | P>A | Maturity onset diabetes mellitus in young Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002247399 CA213892 RCV003148625 rs193922469 RCV000030012 |
388 | P>R | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000481825 CA120217 rs137853337 VAR_004670 RCV000009793 RCV002482848 |
402 | V>I | Maturity-onset diabetes of the young type 1 Type 2 diabetes mellitus T2D; reduced transactivation activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002506226 CA9870495 rs757897768 COSM3423668 RCV000501691 RCV003148761 COSM3423669 |
415 | G>R | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Maturity-onset diabetes of the young type 1 large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs193922470 RCV003148626 RCV000030014 CA213906 COSM1533729 COSM1533730 |
418 | C>S | lung Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs150776703 RCV000925459 RCV000192779 RCV000370494 RCV000332137 CA205836 RCV002227088 |
437 | P>S | Maturity onset diabetes mellitus in young Familial hyperinsulinism Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV003148966 rs2063851984 RCV001288635 |
442 | G>E | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000117235 VAR_011785 rs1063239 CA231163 RCV002483195 RCV003148649 |
445 | P>S | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002480882 rs774111430 RCV003150419 RCV001269162 CA9870531 |
456 | I>V | Maturity onset diabetes mellitus in young Maturity-onset diabetes of the young type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001358754 rs147638455 RCV001844803 RCV001142000 CA213913 RCV000030015 RCV000725499 RCV000764241 |
463 | I>V | Familial hyperinsulinism Maturity-onset diabetes of the young type 1 Autosomal dominant polycystic liver disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9870061 rs755329974 |
2 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9870062 rs781467980 |
2 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409102940 rs1423549831 |
3 | L>F | No |
ClinGen gnomAD |
|
|
CA409102945 rs1198255545 |
3 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409102958 rs1386633021 |
5 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs537703038 CA9870066 |
8 | V>I | Variant assessed as Somatic; 0.0003237 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM1027061 CA409102996 rs1463436840 COSM1592639 |
9 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA409102999 rs1463436840 |
9 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs775567227 CA9870069 |
10 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870068 rs775567227 |
10 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200655531 CA9870070 |
11 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA409103044 rs1394031320 |
12 | M>L | No |
ClinGen gnomAD |
|
|
rs1316900220 CA409103050 |
12 | M>T | No |
ClinGen gnomAD |
|
|
CA9870072 rs761696474 |
14 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765342557 CA9870073 |
16 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870074 rs750703108 |
18 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758457314 CA9870075 |
22 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs369693799 CA9870078 |
24 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245414025 CA409103194 |
26 | L>V | No |
ClinGen gnomAD |
|
|
CA9870079 rs781738246 |
27 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA409103240 rs1187579643 |
30 | N>H | No |
ClinGen gnomAD |
|
|
CA9870080 rs752973948 |
31 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA409103270 rs1170574009 |
33 | V>M | No |
ClinGen gnomAD |
|
|
CA9870081 rs756553207 |
35 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745604501 CA9870083 CA9870084 |
36 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315400402 rs899205490 |
36 | M>T | No |
ClinGen TOPMed |
|
|
CA9870086 rs746544497 |
38 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 38 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870087 rs768670371 |
38 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462526900 CA409103652 |
39 | D>G | No |
ClinGen gnomAD |
|
|
rs753285226 CA409103705 |
48 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA315403984 rs753285226 |
48 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409103719 rs1223493898 |
50 | A>P | No |
ClinGen TOPMed |
|
|
CA409103718 COSM172628 rs1223493898 COSM172629 |
50 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9870163 rs763529905 |
51 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201545824 CA9870166 |
57 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315403999 rs201545824 |
57 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199678287 CA409103766 CA409103765 |
57 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376906221 CA9870169 |
58 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409103767 rs376906221 |
58 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376906221 CA9870168 |
58 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 59 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769007443 CA9870171 |
64 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600707598 CA409103813 |
65 | D>A | No |
ClinGen Ensembl |
|
|
rs773633446 CA9870174 COSM188396 COSM188397 |
68 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 74 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030452628 CA315404040 |
75 | S>L | No |
ClinGen Ensembl |
|
|
CA409103884 rs1481714420 |
76 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878964185 CA315404075 |
87 | S>C | No |
ClinGen Ensembl |
|
|
rs1008906897 CA409103963 RCV000658380 |
87 | S>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA9870182 rs765133569 |
90 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM577682 rs1413804456 COSM577683 COSM1142855 CA409103990 |
92 | H>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1451758887 CA409103998 |
93 | M>L | No |
ClinGen TOPMed |
|
|
rs1347307126 CA409104002 |
93 | M>R | No |
ClinGen gnomAD |
|
|
rs1347307126 CA409104003 |
93 | M>T | No |
ClinGen gnomAD |
|
|
rs1451758887 CA409103999 |
93 | M>V | No |
ClinGen TOPMed |
|
|
rs1197867718 CA409104071 |
97 | R>S | No |
ClinGen gnomAD |
|
|
CA9870202 rs371557531 |
100 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339652750 CA409104119 |
101 | Q>L | No |
ClinGen TOPMed |
|
|
rs772786482 CA9870203 |
103 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870204 rs772786482 |
103 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751274258 CA9870206 |
122 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409104359 rs1164178248 |
122 | R>W | No |
ClinGen TOPMed |
|
|
rs1334911166 CA409104368 |
123 | A>S | No |
ClinGen gnomAD |
|
|
rs1385303123 CA409104372 COSM1027068 COSM1153932 |
123 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1396612785 CA409104379 |
124 | G>D | No |
ClinGen gnomAD |
|
|
rs1298896114 CA409105356 |
129 | A>D | No |
ClinGen gnomAD |
|
|
CA9870226 RCV001288997 rs370239205 |
134 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs137853336 CA315408365 |
136 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9870230 rs757405041 |
138 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs779271027 CA9870231 |
139 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA409105499 rs779271027 |
139 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9870232 rs764196059 |
140 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049090047 CA315408392 |
141 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 147 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365082353 CA409105706 |
153 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409105711 rs1423266814 |
153 | N>S | No |
ClinGen gnomAD |
|
|
CA9870238 rs147342965 |
154 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147342965 COSM1027072 COSM1027073 CA9870237 COSM1592634 |
154 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1261765124 CA409105729 |
155 | L>V | No |
ClinGen TOPMed |
|
|
CA409105763 rs1240512008 |
158 | A>T | No |
ClinGen gnomAD |
|
|
COSM1027074 COSM1027075 COSM1592633 rs754143633 CA9870242 |
158 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA409105784 rs1240895253 |
160 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1600722931 CA409105789 |
160 | V>G | No |
ClinGen Ensembl |
|
|
CA315408820 rs952497863 |
166 | T>I | No |
ClinGen Ensembl |
|
|
CA315408833 rs1050393614 |
168 | P>R | No |
ClinGen TOPMed |
|
|
rs758036527 CA9870272 |
168 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9870274 rs768495780 |
170 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409105903 rs768495780 |
170 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747928745 CA9870276 |
171 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870277 rs769976671 |
172 | I>F | No |
ClinGen ExAC |
|
|
rs763010207 CA9870279 |
173 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870281 rs557888367 |
173 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315408883 rs1035960749 |
176 | I>S | No |
ClinGen TOPMed |
|
|
rs753072592 CA9870285 |
177 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1713515 COSM1713514 CA9870284 rs753072592 COSM1713516 |
177 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA409105946 rs371827863 |
178 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371827863 CA9870287 COSM1153933 COSM1027078 |
178 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409105965 rs1367387825 |
181 | I>F | No |
ClinGen TOPMed |
|
|
rs1404334125 CA409105968 |
181 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 182 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870291 rs754907741 |
185 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781033951 CA9870292 |
189 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 190 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201086670 CA315408909 |
195 | L>Q | No |
ClinGen 1000Genomes |
|
|
CA9870294 rs769636511 |
197 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA409106083 rs952494962 |
199 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM290660 rs952494962 CA315408928 COSM290659 |
199 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA409106136 rs1222461881 |
204 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409106162 rs1568731720 |
206 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 206 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315408952 rs771156648 |
210 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201749293 CA9870298 |
212 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA315408955 rs112945683 |
212 | P>S | No |
ClinGen gnomAD |
|
|
CA409106229 rs112945683 |
212 | P>T | No |
ClinGen gnomAD |
|
|
rs1159931590 CA409106256 |
214 | D>G | No |
ClinGen gnomAD |
|
|
CA9870300 rs768043933 |
215 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409106276 rs1301166505 |
216 | Q>* | No |
ClinGen gnomAD |
|
|
rs1301166505 CA409106275 |
216 | Q>E | No |
ClinGen gnomAD |
|
|
CA315410734 rs1032164393 |
218 | A>D | No |
ClinGen TOPMed |
|
|
rs762312899 CA9870322 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315410743 rs753476712 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1213428004 CA409106852 |
227 | H>Q | No |
ClinGen gnomAD |
|
|
rs1171143908 CA409106845 |
227 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469544671 CA409106889 |
231 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409106964 rs1381499581 |
237 | M>V | No |
ClinGen gnomAD |
|
|
rs752216751 CA9870327 |
238 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409107029 rs777727657 |
241 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9870329 rs777727657 |
241 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870332 rs202105574 CA9870331 |
242 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs748537070 | 246 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409107080 rs1257417155 |
246 | G>C | No |
ClinGen gnomAD |
|
|
CA9870359 rs770348231 |
247 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs773402510 CA409107339 |
250 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773402510 CA9870360 |
250 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409107360 rs1555816615 RCV000516891 |
253 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9870361 rs376013528 |
253 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775178928 CA9870362 |
255 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA9870364 rs145542196 |
259 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259110384 CA409107406 |
260 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1028937748 CA315411405 |
261 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200985945 CA9870367 |
263 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409107425 COSM3405114 COSM3405116 COSM3405115 rs200985945 |
263 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs761602960 CA9870366 |
263 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs1164357335 CA409107443 |
266 | I>T | No |
ClinGen TOPMed |
|
|
rs1032055611 CA315411422 |
267 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
RCV000518730 CA409107472 rs781364316 |
271 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs781364316 CA9870372 |
271 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1190126192 CA409107482 |
272 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409107501 rs1188828736 |
276 | F>L | No |
ClinGen TOPMed |
|
|
rs748284293 CA9870373 |
276 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9870374 rs756539709 |
278 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409107518 rs756539709 |
278 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409107540 rs1236613475 |
282 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409107564 rs1385142974 |
285 | E>* | No |
ClinGen gnomAD |
|
|
rs748714111 CA9870377 |
286 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9870378 rs746602886 |
287 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768316428 CA9870379 |
288 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs6093980 CA315411459 |
289 | L>F | No |
ClinGen Ensembl |
|
|
CA9870380 rs775961355 |
290 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA409107609 rs1378665862 |
292 | I>V | No |
ClinGen gnomAD |
|
|
CA409107616 rs1270743847 |
293 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 296 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870391 rs201777208 |
303 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM293826 COSM293825 CA409108026 rs1199561736 |
304 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA409108039 rs1173974862 |
306 | G>V | No |
ClinGen TOPMed |
|
|
rs746259207 CA9870394 |
308 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9870397 rs371124358 |
310 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870395 rs768263630 |
310 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409108070 RCV000516515 rs1555817727 |
312 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs771015255 CA9870401 |
314 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774250260 CA9870403 |
316 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870404 rs759446088 |
318 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs186151007 CA315413808 |
324 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409108177 rs1600743145 |
325 | D>A | No |
ClinGen Ensembl |
|
|
rs868536671 CA315413816 |
325 | D>N | No |
ClinGen gnomAD |
|
|
CA409108187 rs1486917678 |
326 | R>C | No |
ClinGen TOPMed |
|
|
COSM3405119 COSM3405118 rs753027685 CA9870406 COSM3405117 |
326 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1187109848 CA409108200 |
327 | Q>R | No |
ClinGen gnomAD |
|
|
CA315413826 rs751457664 |
328 | Y>C | No |
ClinGen gnomAD |
|
|
rs753881645 CA9870409 |
328 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1600743213 CA409108224 |
329 | D>A | No |
ClinGen Ensembl |
|
|
COSM1027084 COSM1027085 rs779433584 CA9870411 COSM1592629 |
330 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3713279 COSM3713280 rs779433584 COSM3713278 CA9870412 |
330 | S>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA409108243 rs193922479 RCV000711965 |
331 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA409108263 rs1488781906 |
332 | G>D | No |
ClinGen gnomAD |
|
|
CA636174008 rs1266011448 |
332 | G>V | No |
ClinGen gnomAD |
|
|
CA9870415 rs777290134 |
335 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs989594362 CA315413886 |
337 | L>M | No |
ClinGen TOPMed |
|
|
rs1404049519 CA409108445 |
348 | T>I | No |
ClinGen gnomAD |
|
|
rs770962344 CA9870419 |
352 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759399251 CA9870421 |
353 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs150247632 CA9870423 |
355 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776656815 CA9870426 |
360 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761927262 CA9870427 |
361 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs555432665 CA9870429 |
362 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766712393 CA409108660 |
363 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9870431 rs766712393 |
363 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870434 rs777332317 |
366 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870433 rs755751378 |
366 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756892403 CA9870436 |
368 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409108847 rs1405767747 |
376 | G>E | No |
ClinGen gnomAD |
|
|
CA409108843 rs1568741506 |
376 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 377 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369301806 CA315420126 |
379 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs201319115 CA315420119 |
379 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760091853 CA9870472 |
380 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs565460600 CA9870474 |
381 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409109972 rs1204164924 |
381 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409109979 rs1453447463 |
382 | A>T | No |
ClinGen gnomAD |
|
|
CA409109984 rs1600751379 |
382 | A>V | No |
ClinGen Ensembl |
|
|
rs1316299551 CA409109989 |
383 | P>L | No |
ClinGen TOPMed |
|
|
rs761517690 CA9870475 |
383 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs200760863 CA9870477 |
385 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9870479 rs372765956 |
387 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs193922469 CA9870480 |
388 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409110020 rs1216199168 |
388 | P>S | No |
ClinGen gnomAD |
|
|
CA409110030 rs1488269579 |
390 | H>P | No |
ClinGen gnomAD |
|
|
COSM22034 CA409110060 rs1189631203 |
394 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA409110079 rs1568744744 |
397 | H>N | No |
ClinGen Ensembl |
|
|
rs780920425 CA9870481 |
397 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs199956600 CA409110090 |
398 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9870482 rs199956600 |
398 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9870483 rs769972803 |
399 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 401 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870485 rs377151067 |
404 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774500766 CA9870486 |
406 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA409110141 rs1371305710 |
406 | N>K | No |
ClinGen gnomAD |
|
|
rs759909412 CA9870487 |
406 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772736726 CA9870488 |
407 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409110146 rs1306502663 |
407 | T>K | No |
ClinGen gnomAD |
|
|
COSM1717357 rs761166336 CA9870490 COSM1717358 |
408 | M>T | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9870489 rs530264224 |
408 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA315420217 rs148745312 |
409 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9870491 rs148745312 |
409 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA315420213 rs868043983 |
409 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 411 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870493 rs762669064 |
411 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs939322529 CA315420230 |
416 | Q>R | No |
ClinGen Ensembl |
|
|
rs550287415 COSM724503 CA9870496 COSM724504 |
417 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1018185646 CA315420234 |
417 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA409110230 rs1178216493 |
420 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA409110243 rs1413742263 |
422 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs202073574 CA9870497 |
422 | R>Q | Variant assessed as Somatic; 4.674e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA409110247 rs752467976 |
423 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9870498 rs752467976 |
423 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9870500 COSM228737 rs755961897 COSM228736 |
425 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755961897 CA9870499 |
425 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916612828 CA315420264 |
428 | A>T | No |
ClinGen Ensembl |
|
|
CA315420743 rs375150423 |
429 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA315420747 rs6031602 |
430 | P>L | No |
ClinGen Ensembl |
|
|
rs1450200237 CA409110300 |
430 | P>T | No |
ClinGen gnomAD |
|
|
CA409110315 rs1313425622 |
432 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1468888406 CA409110333 |
435 | P>S | No |
ClinGen gnomAD |
|
|
CA409110348 rs1441199914 |
438 | P>T | No |
ClinGen TOPMed |
|
|
CA315420765 rs748399403 |
439 | G>V | No |
ClinGen gnomAD |
|
|
rs1600753532 CA409110359 |
440 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 443 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409110400 rs1239203229 |
446 | Y>* | No |
ClinGen TOPMed |
|
|
CA9870523 rs541597911 |
446 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1025249006 CA315420766 |
446 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA409110425 rs1488143159 |
450 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1488143159 CA409110424 |
450 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758614339 CA9870524 |
450 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281910350 CA409110433 |
452 | A>P | No |
ClinGen TOPMed |
|
|
VAR_062267 rs776824742 CA9870528 |
453 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9870530 rs371405335 |
454 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9870533 rs145314165 |
457 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145314165 CA9870534 |
457 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328420041 CA409110466 |
458 | K>* | No |
ClinGen gnomAD |
|
|
rs2063853373 RCV001269176 RCV002542856 |
459 | P>T | No |
ClinVar dbSNP |
|
|
rs1013734267 CA315420801 |
460 | L>I | No |
ClinGen TOPMed |
|
|
CA9870536 rs764131853 |
461 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 465 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371132556 CA9870538 |
465 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374856505 CA9870540 |
466 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286857547 CA409110513 |
466 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315420831 rs905385550 |
467 | T>I | No |
ClinGen Ensembl |
|
|
rs747118735 CA9870542 |
468 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9870543 rs755410149 |
469 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs781747330 CA9870544 |
471 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1713523 rs748452860 COSM1713524 CA9870545 |
472 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419161275 CA409110556 |
473 | V>I | No |
ClinGen gnomAD |
3 associated diseases with P41235
[MIM: 125850]: Maturity-onset diabetes of the young 1 (MODY1)
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:10389854, ECO:0000269|PubMed:17407387, ECO:0000269|PubMed:9243109, ECO:0000269|PubMed:9313765}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 125853]: Diabetes mellitus, non-insulin-dependent (NIDDM)
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:9449683}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
[MIM: 616026]: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)
An autosomal dominant disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. {ECO:0000269|PubMed:22802087, ECO:0000269|PubMed:24285859}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:10389854, ECO:0000269|PubMed:17407387, ECO:0000269|PubMed:9243109, ECO:0000269|PubMed:9313765}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:9449683}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
- An autosomal dominant disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. {ECO:0000269|PubMed:22802087, ECO:0000269|PubMed:24285859}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
14 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| fatty acid binding | Binding to a fatty acid, an aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| zinc ion binding | Binding to a zinc ion (Zn). |
30 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure development | The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. |
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| hepatocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a hepatocyte. A hepatocyte is specialized epithelial cell that is organized into interconnected plates called lobules, and is the main structural component of the liver. |
| lipid homeostasis | Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| ornithine metabolic process | The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. |
| phospholipid homeostasis | Any process involved in the maintenance of an internal steady state of phospholipid within an organism or cell. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of gastrulation | Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. |
| regulation of growth hormone receptor signaling pathway | Any process that modulates the rate, frequency or extent of the growth hormone receptor signaling pathway. The growth hormone receptor signaling pathway is the series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand. |
| regulation of insulin secretion | Any process that modulates the frequency, rate or extent of the regulated release of insulin. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to glucose | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| sex differentiation | The establishment of the sex of an organism by physical differentiation. |
| signal transduction involved in regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. |
| SMAD protein signal transduction | The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| triglyceride homeostasis | Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell. |
| type B pancreatic cell development | The process whose specific outcome is the progression of a type B pancreatic cell over time, from its formation to the mature structure. A type B pancreatic cell is a cell located towards center of the islets of Langerhans that secretes insulin. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P24468 | NR2F2 | COUP transcription factor 2 | Homo sapiens (Human) | PR |
| P10588 | NR2F6 | Nuclear receptor subfamily 2 group F member 6 | Homo sapiens (Human) | PR |
| P10589 | NR2F1 | COUP transcription factor 1 | Homo sapiens (Human) | PR |
| P49116 | NR2C2 | Nuclear receptor subfamily 2 group C member 2 | Homo sapiens (Human) | PR |
| P49698 | Hnf4a | Hepatocyte nuclear factor 4-alpha | Mus musculus (Mouse) | PR |
| P22449 | Hnf4a | Hepatocyte nuclear factor 4-alpha | Rattus norvegicus (Rat) | PR |
| Q21006 | nhr-34 | Nuclear hormone receptor family member nhr-34 | Caenorhabditis elegans | PR |
| Q21878 | nhr-1 | Nuclear hormone receptor family member nhr-1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRLSKTLVDM | DMADYSAALD | PAYTTLEFEN | VQVLTMGNDT | SPSEGTNLNA | PNSLGVSALC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AICGDRATGK | HYGASSCDGC | KGFFRRSVRK | NHMYSCRFSR | QCVVDKDKRN | QCRYCRLKKC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FRAGMKKEAV | QNERDRISTR | RSSYEDSSLP | SINALLQAEV | LSRQITSPVS | GINGDIRAKK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IASIADVCES | MKEQLLVLVE | WAKYIPAFCE | LPLDDQVALL | RAHAGEHLLL | GATKRSMVFK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DVLLLGNDYI | VPRHCPELAE | MSRVSIRILD | ELVLPFQELQ | IDDNEYAYLK | AIIFFDPDAK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLSDPGKIKR | LRSQVQVSLE | DYINDRQYDS | RGRFGELLLL | LPTLQSITWQ | MIEQIQFIKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FGMAKIDNLL | QEMLLGGSPS | DAPHAHHPLH | PHLMQEHMGT | NVIVANTMPT | HLSNGQMCEW |
| 430 | 440 | 450 | 460 | 470 | |
| PRPRGQAATP | ETPQPSPPGG | SGSEPYKLLP | GAVATIVKPL | SAIPQPTITK | QEVI |