Q9C0B1
PR
Gene name |
FTO |
Protein name |
Alpha-ketoglutarate-dependent dioxygenase FTO |
Names |
Fat mass and obesity-associated protein, U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO, U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO, mRNA (2'-O-methyladenosine-N(6)-)-demethylase FTO, m6A(m)-demethylase FTO, mRNA N(6)-methyladenosine demethylase FTO, tRNA N1-methyl adenine demethylase FTO |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79068 |
EC number |
1.14.11.53: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
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
25 structures for Q9C0B1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3LFM | X-ray | 250 A | A | 32-505 | PDB |
| 4CXW | X-ray | 310 A | A | 32-505 | PDB |
| 4CXX | X-ray | 276 A | A | 32-505 | PDB |
| 4CXY | X-ray | 265 A | A | 32-505 | PDB |
| 4IDZ | X-ray | 246 A | A | 32-505 | PDB |
| 4IE0 | X-ray | 253 A | A | 32-505 | PDB |
| 4IE4 | X-ray | 250 A | A | 32-505 | PDB |
| 4IE5 | X-ray | 195 A | A | 32-505 | PDB |
| 4IE6 | X-ray | 250 A | A | 32-505 | PDB |
| 4IE7 | X-ray | 260 A | A | 32-505 | PDB |
| 4QHO | X-ray | 237 A | A | 32-505 | PDB |
| 4QKN | X-ray | 220 A | A | 32-503 | PDB |
| 4ZS2 | X-ray | 216 A | A | 32-505 | PDB |
| 4ZS3 | X-ray | 245 A | A | 32-505 | PDB |
| 5DAB | X-ray | 210 A | A | 32-505 | PDB |
| 5F8P | X-ray | 220 A | A | 32-502 | PDB |
| 5ZMD | X-ray | 330 A | A/C/E/G | 37-499 | PDB |
| 6AEJ | X-ray | 280 A | PDB | ||
| 6AK4 | X-ray | 280 A | PDB | ||
| 6AKW | X-ray | 220 A | A | 32-502 | PDB |
| 7CKK | X-ray | 235 A | A | 32-500 | PDB |
| 7E8Z | X-ray | 255 A | A | 32-505 | PDB |
| 7WCV | X-ray | 230 A | A | 32-505 | PDB |
| 8IT9 | X-ray | 214 A | A | 32-505 | PDB |
| AF-Q9C0B1-F1 | Predicted | AlphaFoldDB |
404 variants for Q9C0B1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs765590518 CA8058319 RCV001121156 |
48 | K>Q | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000625863 rs1410999299 CA396121503 |
88 | K>R | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs151263395 CA8058348 RCV001856593 RCV001121157 |
93 | P>R | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000398676 CA8058372 rs79206939 RCV000895438 |
134 | A>T | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147561986 CA8058375 RCV001121158 RCV002556606 |
143 | N>S | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201086068 CA8058376 RCV002069871 RCV001116236 |
144 | D>N | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000973053 CA8058385 RCV000302311 rs145884431 |
163 | A>T | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000514150 rs61743972 CA8058392 RCV001116237 |
182 | G>A | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001116238 RCV001862894 RCV002558147 rs150450891 CA8058403 |
201 | V>I | Lethal polymalformative syndrome, Boissel type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001116239 rs138816516 CA8058422 |
241 | A>T | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2079552258 RCV002546489 RCV002546490 RCV001331558 |
252 | P>S | Lethal polymalformative syndrome, Boissel type Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000886969 CA8058442 rs144743617 RCV001116240 |
256 | S>N | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000266601 rs886052103 CA10648561 |
261 | H>Q | Lethal polymalformative syndrome, Boissel type Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs370075174 RCV001593280 RCV001117682 CA8058453 |
286 | A>V | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000001110 rs121918214 VAR_063252 CA114727 |
316 | R>Q | Lethal polymalformative syndrome, Boissel type GDFD; has no residual normal activity, impaired ability to demethylate N(6)-methyladenosine RNAs (m6A) RNAs [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000778469 rs1567384814 |
319 | S>missing | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_075468 RCV000190415 CA248803 rs781028867 |
319 | S>F | Lethal polymalformative syndrome, Boissel type GDFD; reduced enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
CA10648564 rs886052104 RCV000326322 |
320 | T>I | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8058474 VAR_075469 rs745616565 |
322 | R>Q | GDFD [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs921941344 RCV001117684 CA281970430 |
358 | S>F | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001117685 CA8058556 rs143788264 RCV001856545 |
400 | M>V | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8058559 RCV000966003 RCV001117686 VAR_032078 rs16952624 |
405 | A>V | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002556539 rs371704660 CA8058599 RCV001119252 |
428 | V>M | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8058600 RCV002556540 RCV001119253 rs141327394 RCV001856566 |
432 | N>S | Lethal polymalformative syndrome, Boissel type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886052107 RCV000292139 CA10647725 |
436 | T>P | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8058625 rs141983035 RCV000779191 |
462 | R>* | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs763703220 RCV001119254 CA8058642 |
493 | V>F | Lethal polymalformative syndrome, Boissel type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201836578 CA281381707 |
2 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs989161287 CA281381710 |
2 | K>N | No |
ClinGen gnomAD |
|
|
rs201836578 CA395927452 |
2 | K>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 2 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058255 rs765157936 |
3 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1161946063 CA395927469 |
3 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1161946063 CA395927468 |
3 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8058256 rs752817421 |
4 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395927478 rs1456216323 |
4 | T>I | No |
ClinGen gnomAD |
|
|
CA395927471 rs752817421 |
4 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035019229 CA281381718 |
5 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1035019229 CA281381715 |
5 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1440570070 CA395927484 |
5 | P>S | No |
ClinGen TOPMed |
|
|
CA281381720 rs913398301 |
6 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs546144833 CA8058258 |
6 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395927491 rs913398301 |
6 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1329981588 CA395927514 |
8 | E>G | No |
ClinGen gnomAD |
|
|
rs778741837 CA8058260 |
8 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281381732 rs1050722057 |
9 | E>* | No |
ClinGen Ensembl |
|
|
rs1050722057 CA281381729 |
9 | E>Q | No |
ClinGen Ensembl |
|
|
rs1282501161 CA395927527 |
10 | R>* | No |
ClinGen gnomAD |
|
|
rs575883122 CA8058262 |
10 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395927529 rs575883122 |
10 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395927537 rs1388384491 |
11 | E>D | No |
ClinGen gnomAD |
|
|
rs1016221892 CA281381752 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1567315554 CA396120733 |
16 | K>N | No |
ClinGen Ensembl |
|
|
rs774232694 CA8058277 |
16 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396120776 rs1211420864 |
23 | L>V | No |
ClinGen TOPMed |
|
|
CA8058279 rs572790599 |
25 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396120797 rs1294612571 |
26 | T>A | No |
ClinGen gnomAD |
|
|
CA8058281 rs756522457 |
26 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058282 rs149393601 |
28 | L>V | No |
ClinGen ESP ExAC |
|
|
CA396120822 rs1275818602 |
30 | Y>H | No |
ClinGen gnomAD |
|
|
rs373028121 CA8058284 |
32 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396120837 rs1194621251 |
32 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8058285 rs373028121 |
32 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396120838 rs1292607982 |
33 | P>T | No |
ClinGen gnomAD |
|
|
CA396120876 rs7499606 |
36 | D>E | No |
ClinGen gnomAD |
|
|
CA396120872 rs1231833034 |
36 | D>V | No |
ClinGen TOPMed |
|
|
rs756946176 CA8058287 |
37 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs780803760 CA8058289 |
38 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769612021 CA8058290 |
39 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768675500 CA396121215 |
42 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396121216 rs768675500 CA8058310 |
42 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058311 rs778691805 |
43 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8058314 rs773359111 |
44 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8058312 rs748048648 |
44 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771274827 CA8058316 |
45 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA396121245 rs1288155645 |
47 | P>R | No |
ClinGen TOPMed |
|
|
CA8058318 rs759800072 |
47 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA281964758 COSM1609421 rs148579300 |
50 | I>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA8058322 rs371489995 |
51 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM971510 CA8058321 rs371489995 |
51 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1378352 rs531215275 CA396121270 RCV000598325 |
52 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs755828209 CA8058324 |
52 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779539101 CA396121302 |
56 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396121312 rs1567332084 |
58 | S>Y | No |
ClinGen Ensembl |
|
|
CA396121330 rs753714090 |
60 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550932456 CA8058327 |
62 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8058328 rs778727414 |
64 | E>G | No |
ClinGen ExAC |
|
|
CA396121361 rs1304763607 |
65 | V>F | No |
ClinGen gnomAD |
|
|
CA396121359 rs1304763607 |
65 | V>I | No |
ClinGen gnomAD |
|
|
CA281964760 rs975320571 |
67 | E>D | No |
ClinGen TOPMed |
|
|
CA281964761 rs555319581 |
68 | A>G | No |
ClinGen gnomAD |
|
|
CA396121386 rs1352866890 |
69 | F>L | No |
ClinGen gnomAD |
|
|
CA8058329 rs748099982 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771538354 CA281964762 |
71 | T>A | No |
ClinGen Ensembl |
|
|
rs772076301 CA8058330 |
71 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8058331 rs778065726 |
73 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771235427 CA8058333 |
74 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs1256195889 CA396121428 |
75 | H>Q | No |
ClinGen gnomAD |
|
|
CA8058334 rs776743009 |
76 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8058335 rs776743009 |
76 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8058336 rs770061754 |
77 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA281964763 rs143695616 |
80 | R>Q | No |
ClinGen ESP TOPMed |
|
|
CA8058338 rs140101381 |
80 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8058339 rs764576608 |
81 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1417363477 CA396121468 |
82 | L>P | No |
ClinGen gnomAD |
|
|
CA396121470 rs773635184 |
83 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058341 rs773635184 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773635184 CA8058342 |
83 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058343 rs753462430 |
84 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434557313 CA396121481 |
85 | I>F | No |
ClinGen gnomAD |
|
|
CA8058344 rs754590859 |
86 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA396121491 rs1452432547 |
86 | Q>H | No |
ClinGen TOPMed |
|
|
CA8058345 rs778585710 |
86 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA281964764 rs113383961 |
89 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151263395 COSM1378353 CA8058347 |
93 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396121535 rs1598757445 |
94 | V>I | No |
ClinGen Ensembl |
|
|
rs757311078 CA8058350 |
96 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs139577103 CA8058352 |
96 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8058351 rs139577103 |
96 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368658799 CA8058353 |
97 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396121565 rs1342557197 |
99 | I>T | No |
ClinGen gnomAD |
|
|
rs775904851 CA8058354 |
99 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396121591 rs1203776934 |
103 | G>D | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA396121609 rs1479729827 |
106 | Y>H | No |
ClinGen gnomAD |
|
|
CA396121631 rs1253634102 |
108 | Y>* | No |
ClinGen gnomAD |
|
|
rs769204154 CA8058356 |
109 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA396121649 rs1191932724 |
111 | T>N | No |
ClinGen gnomAD |
|
|
rs1392454854 CA396121653 |
112 | R>T | No |
ClinGen gnomAD |
|
|
rs762343983 CA8058358 |
115 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA396121685 rs1160651565 |
117 | P>R | No |
ClinGen TOPMed |
|
|
rs759168981 CA8058361 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1473876555 CA396121701 |
119 | P>L | No |
ClinGen TOPMed |
|
|
CA8058362 rs774450343 |
120 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867050060 CA281964769 |
122 | G>R | No |
ClinGen gnomAD |
|
|
CA281964768 rs867050060 |
122 | G>W | No |
ClinGen gnomAD |
|
|
rs1191103805 CA396121725 |
124 | N>H | No |
ClinGen TOPMed |
|
|
rs201792014 CA281964770 |
125 | I>R | No |
ClinGen 1000Genomes |
|
|
CA8058364 rs374337023 |
126 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914343444 CA281964771 |
127 | H>Y | No |
ClinGen Ensembl |
|
|
CA8058368 rs757157849 |
129 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM169165 rs751544648 CA8058366 |
129 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8058369 rs745951679 |
130 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs141423836 CA8058370 |
132 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598757869 CA396121789 |
133 | A>V | No |
ClinGen Ensembl |
|
|
CA281964772 rs1051308744 |
139 | F>L | No |
ClinGen Ensembl |
|
|
CA8058378 rs182784714 |
146 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396121874 rs1365423823 |
146 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058379 rs141915969 |
148 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8058380 rs775311728 |
150 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs753133541 CA281964774 |
150 | T>I | No |
ClinGen Ensembl |
|
|
CA8058381 COSM307435 rs762625200 |
151 | I>M | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA396121906 rs1322199273 |
151 | I>T | No |
ClinGen gnomAD |
|
|
rs751353294 CA8058383 |
156 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1400616279 CA396121949 |
157 | L>P | No |
ClinGen gnomAD |
|
|
CA396121945 rs1358038241 |
157 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs371830760 CA8058384 |
160 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1292567537 CA396121982 |
162 | K>R | No |
ClinGen gnomAD |
|
|
rs1231516982 CA396121990 |
164 | N>H | No |
ClinGen gnomAD |
|
|
CA396121996 rs1332447878 |
164 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs756242925 CA396122027 |
169 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756242925 CA8058387 |
169 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs754065579 CA396122033 |
170 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754065579 CA8058389 |
170 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755136162 CA8058390 |
173 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058391 rs779309219 |
176 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1473976471 CA396122073 |
176 | F>I | No |
ClinGen gnomAD |
|
|
CA396122086 rs1407999347 |
178 | R>G | No |
ClinGen gnomAD |
|
|
rs1031617009 CA396122091 |
178 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1248824944 CA396122089 |
178 | R>T | No |
ClinGen TOPMed |
|
|
rs1255477592 CA396122094 |
179 | V>L | No |
ClinGen TOPMed |
|
|
rs61743972 CA396122117 |
182 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772503437 CA8058393 |
184 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1312261216 CA396122133 |
185 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA396122141 rs1227337046 |
186 | N>S | No |
ClinGen TOPMed |
|
|
rs1567333363 CA396122148 |
187 | G>E | No |
ClinGen Ensembl |
|
|
rs577569584 CA8058395 COSM1378354 |
187 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 189 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 190 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396122172 rs1282396852 |
190 | E>D | No |
ClinGen gnomAD |
|
|
CA8058398 rs762749778 |
190 | E>K | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1393923768 CA396122174 |
191 | V>M | No |
ClinGen TOPMed |
|
|
rs1212033225 CA396122189 |
193 | I>V | No |
ClinGen gnomAD |
|
|
rs1257170214 CA396122199 |
194 | K>R | No |
ClinGen gnomAD |
|
|
rs774050560 CA8058400 |
197 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058401 rs761651552 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA281964777 rs756850408 |
200 | N>D | No |
ClinGen Ensembl |
|
|
rs760541418 CA8058404 |
204 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867677388 CA281964778 |
205 | N>K | No |
ClinGen Ensembl |
|
|
rs753902912 CA8058406 |
206 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396122279 rs138348216 |
207 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138348216 CA8058407 |
207 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396122302 rs1431584411 |
210 | Q>* | No |
ClinGen gnomAD |
|
|
rs752812594 CA8058409 |
210 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs779165603 CA8058408 |
210 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391134548 CA396122329 |
213 | P>L | No |
ClinGen TOPMed |
|
|
rs370009039 CA8058411 |
216 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281964780 rs1028237381 |
216 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA281964781 rs924124172 |
216 | K>R | No |
ClinGen TOPMed |
|
|
rs771548627 CA8058413 |
220 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1484209773 CA396122382 |
221 | F>C | No |
ClinGen TOPMed |
|
|
CA396122381 rs1484209773 |
221 | F>S | No |
ClinGen TOPMed |
|
|
CA281964782 rs983657094 |
222 | G>D | No |
ClinGen TOPMed |
|
|
CA8058415 rs748772299 |
223 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA396122393 rs1342689950 |
223 | M>T | No |
ClinGen TOPMed |
|
|
CA8058414 rs780601119 |
223 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058417 rs774078678 |
227 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179039850 CA396122426 |
228 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771907956 CA8058419 |
231 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192563467 CA396122496 |
237 | V>A | No |
ClinGen gnomAD |
|
|
rs760665708 CA8058421 |
240 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1320667402 CA396122513 |
240 | S>T | No |
ClinGen TOPMed |
|
|
COSM244619 CA8058423 rs753958759 |
241 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 245 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396122554 rs1302917355 |
246 | S>R | No |
ClinGen gnomAD |
|
|
rs141920596 CA8058438 |
251 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776580855 CA8058440 |
252 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8058441 rs759400907 |
253 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs369122168 CA8058443 |
258 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs76762929 COSM1519420 CA8058444 |
260 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA281966596 rs76762929 |
260 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396119936 rs1486647785 |
261 | H>Y | No |
ClinGen gnomAD |
|
|
rs148528422 CA8058445 |
262 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200452822 CA8058446 |
263 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757723391 CA8058447 |
264 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8058448 rs756019558 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396119974 rs1475617180 |
267 | P>H | No |
ClinGen gnomAD |
|
|
CA281966597 rs1016337772 |
267 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1164310772 CA396119981 |
268 | D>G | No |
ClinGen gnomAD |
|
|
CA8058449 rs533379899 |
269 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA281966598 rs964254505 |
270 | W>* | No |
ClinGen TOPMed |
|
| VAR_076423 | 271 | H>P | found in a patient with microcephaly, developmental delay, behavioral abnormalities, dysmorphic facial features, hypotonia and other various phenotypic abnormalities; unknown pathological significance [UniProt] | No | UniProt |
|
CA281966599 rs868433402 |
271 | H>R | No |
ClinGen gnomAD |
|
|
CA8058450 rs756523431 |
272 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920233004 CA281966600 |
273 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058451 rs778545208 |
281 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380871124 CA396120074 |
281 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8058452 rs376957531 |
286 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA396120109 rs1290922677 |
287 | I>T | No |
ClinGen gnomAD |
|
|
CA281966601 rs373076420 |
288 | P>L | No |
ClinGen ESP |
|
|
rs777382917 CA8058454 |
288 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA396120125 rs1176264637 |
290 | H>P | No |
ClinGen TOPMed |
|
|
rs1223419681 CA396120132 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
CA396120149 rs1239366948 |
293 | D>V | No |
ClinGen gnomAD |
|
|
CA396120156 rs1480708197 |
294 | C>Y | No |
ClinGen TOPMed |
|
|
CA396120164 rs1259762053 |
295 | Y>C | No |
ClinGen gnomAD |
|
|
rs1234090595 CA396120172 |
296 | F>S | No |
ClinGen TOPMed |
|
|
CA396120182 rs1273047834 |
297 | M>I | No |
ClinGen TOPMed |
|
|
CA396120178 rs1207288378 |
297 | M>L | No |
ClinGen TOPMed |
|
|
CA396120180 rs1212754154 |
297 | M>T | No |
ClinGen gnomAD |
|
|
CA396120176 rs1207288378 |
297 | M>V | No |
ClinGen TOPMed |
|
|
rs746623287 CA8058455 |
298 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA281966603 rs777558537 |
299 | D>H | No |
ClinGen gnomAD |
|
|
rs1270214040 CA396120222 |
301 | L>F | No |
ClinGen TOPMed |
|
|
CA396120231 rs1598879991 |
302 | N>S | No |
ClinGen Ensembl |
|
|
rs766767212 CA8058468 |
304 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396120253 rs1350889567 |
306 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396120265 rs1598880061 |
307 | H>R | No |
ClinGen Ensembl |
|
|
CA396120263 rs1322897154 COSM1519419 |
307 | H>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8058469 rs542365655 |
308 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200152693 CA281969777 |
311 | A>S | No |
ClinGen TOPMed |
|
|
CA396120294 rs1567384728 |
312 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1462889039 CA396120305 |
313 | S>L | No |
ClinGen gnomAD |
|
|
rs139814987 CA281969779 |
314 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777196899 CA8058471 |
316 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1370044478 CA396120322 |
317 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781028867 CA8058473 |
319 | S>Y | No |
ClinGen ExAC |
|
|
CA281969780 COSM1378355 rs200201735 |
322 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA396120355 rs200201735 |
322 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs202007463 COSM3948593 RCV000973740 CA8058476 |
325 | E>V | ovary [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs1287663418 | 326 | C>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058497 rs779204175 |
326 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058496 rs779204175 |
326 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8058499 rs773329068 |
330 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942887540 CA281970427 |
331 | L>F | No |
ClinGen TOPMed |
|
|
rs201510895 CA8058500 |
332 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8058501 rs781481485 |
333 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058503 rs760025896 |
336 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs368490949 CA8058505 |
337 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761330347 COSM191278 CA8058506 |
337 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA281970428 rs1020551783 |
338 | C>F | No |
ClinGen Ensembl |
|
|
CA8058507 rs766971002 |
338 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8058508 rs200895945 |
339 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396120490 rs1284248706 |
341 | A>D | No |
ClinGen gnomAD |
|
|
rs755738675 CA8058509 |
341 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755738675 CA396120486 |
341 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs141978030 CA8058510 |
344 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM971511 CA396120533 rs1344580377 |
348 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA8058512 rs149659678 |
348 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs976522662 CA281970429 |
349 | V>A | No |
ClinGen Ensembl |
|
|
rs1252516403 CA396120550 |
350 | D>E | No |
ClinGen TOPMed |
|
|
CA8058513 rs377073096 |
350 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396120557 rs1178634936 |
351 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA396120563 rs1457321367 |
352 | D>A | No |
ClinGen TOPMed |
|
|
CA8058514 rs369714221 |
361 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396120629 rs1274518423 |
362 | A>T | No |
ClinGen TOPMed |
|
|
CA8058515 rs758583500 |
365 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435299421 CA396120666 |
367 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340002370 CA396120713 |
373 | E>V | No |
ClinGen gnomAD |
|
|
COSM971513 rs752687224 CA8058541 |
375 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777779567 CA8058543 |
380 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA396120965 rs1598915445 |
381 | Q>E | No |
ClinGen Ensembl |
|
|
rs1254481831 CA396120976 |
382 | F>V | No |
ClinGen gnomAD |
|
|
rs77759235 CA281971395 |
383 | W>L | No |
ClinGen Ensembl |
|
|
CA8058544 rs747080793 |
383 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1598915505 CA396120990 |
384 | F>V | No |
ClinGen Ensembl |
|
|
CA8058545 rs757468268 |
385 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781495764 CA8058546 |
387 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8058548 rs746048206 |
388 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs780342015 CA8058549 |
388 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA396121018 rs780342015 |
388 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281971396 rs1015579723 |
390 | R>G | No |
ClinGen TOPMed |
|
|
CA396121044 rs1465157191 |
392 | C>R | No |
ClinGen gnomAD |
|
|
CA8058551 rs769206684 |
393 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441842690 CA396121060 |
394 | D>G | No |
ClinGen gnomAD |
|
|
CA396121063 rs1567402822 |
395 | W>R | No |
ClinGen Ensembl |
|
|
CA8058554 rs201572715 |
396 | W>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs1598915681 CA396121073 |
396 | W>G | No |
ClinGen Ensembl |
|
|
rs1598915703 CA396121081 |
397 | C>G | No |
ClinGen Ensembl |
|
|
CA396121087 rs1598915716 |
397 | C>W | No |
ClinGen Ensembl |
|
|
CA8058555 rs776456069 |
399 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs372814208 CA281971397 |
399 | P>L | No |
ClinGen Ensembl |
|
|
CA396121099 rs372814208 |
399 | P>R | No |
ClinGen Ensembl |
|
|
rs776456069 CA396121097 |
399 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396121108 rs1271268742 |
401 | A>T | No |
ClinGen gnomAD |
|
|
CA8058557 rs765180226 |
402 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA396121187 rs1567402941 |
412 | G>R | No |
ClinGen Ensembl |
|
|
rs1189575941 CA396122937 |
418 | L>F | No |
ClinGen TOPMed |
|
|
CA8058592 rs371906409 |
419 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222652247 CA396122952 |
420 | E>G | No |
ClinGen gnomAD |
|
|
CA396122956 rs748820946 |
421 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748820946 CA8058593 |
421 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058594 rs376527078 |
425 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8058596 rs576410322 |
426 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 426 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488347423 CA396123026 |
431 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281976283 rs145170223 |
433 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1435543987 CA396123061 |
437 | A>T | No |
ClinGen TOPMed |
|
|
CA396123069 rs1192322094 |
438 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8058602 rs755099738 |
439 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs558995583 CA8058603 |
441 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567451624 CA396123092 |
442 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM558327 rs758990618 CA8058605 |
445 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8058606 rs139000284 |
445 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1362586808 CA396123134 |
449 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1399267613 CA396123149 |
451 | E>Q | No |
ClinGen gnomAD |
|
|
rs755686716 CA8058608 |
455 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs755686716 CA396123180 |
455 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs376381270 RCV000224338 CA8058624 |
455 | R>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA281991212 rs755836957 |
459 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA281991213 rs937565568 |
459 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 461 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396123253 rs779678337 |
462 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8058626 rs779678337 |
462 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277348916 CA396123274 |
464 | L>F | No |
ClinGen gnomAD |
|
|
CA8058629 rs761068832 |
465 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA396123278 rs761068832 |
465 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8058628 rs754711298 |
465 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599385193 CA396123285 |
466 | A>D | No |
ClinGen Ensembl |
|
|
rs747801335 CA8058630 |
467 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747801335 CA396123292 |
467 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs796761717 CA281991214 |
470 | P>L | No |
ClinGen Ensembl |
|
|
CA8058631 rs771859785 |
471 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396123329 rs771859785 |
471 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396123336 rs1291247246 |
472 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8058632 rs777486753 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396123343 rs1254596324 |
473 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs529673094 CA8058634 |
478 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396123391 rs1412828427 |
478 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1450514559 CA396123393 |
479 | D>H | No |
ClinGen TOPMed |
|
|
CA396123402 rs1172821402 |
480 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 481 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM971515 CA396123425 rs1401317361 |
482 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1458046893 CA396123433 |
483 | M>T | No |
ClinGen TOPMed |
|
|
CA396123439 rs1329766069 |
484 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776819552 CA8058636 |
486 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 488 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487911815 CA396123470 |
488 | D>N | No |
ClinGen gnomAD |
|
|
rs370137051 CA8058638 |
489 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370137051 CA396123480 |
489 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138241079 CA8058640 |
492 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8058639 rs373102373 |
492 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281991215 rs763703220 COSM3387482 COSM3387481 |
493 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8058646 rs750897231 |
496 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750897231 CA396123539 |
496 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476316498 CA396123589 |
502 | E>* | No |
ClinGen gnomAD |
|
|
CA396123588 rs1476316498 |
502 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 503 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172785826 CA396123618 |
505 | P>L | No |
ClinGen TOPMed |
|
|
CA8058647 rs566271902 |
505 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953425722 CA281991216 |
506 | P>S | No |
ClinGen Ensembl |
2 associated diseases with Q9C0B1
[MIM: 612938]: Growth retardation, developmental delay, and facial dysmorphism (GDFD)
A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. {ECO:0000269|PubMed:19559399, ECO:0000269|PubMed:22002720, ECO:0000269|PubMed:26378117, ECO:0000269|PubMed:26697951}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601665]: Obesity (OBESITY)
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:24646999, ECO:0000269|PubMed:26287746}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. It is unclear whether variations associated with obesity directly affect FTO function or alter the expression of adjacent genes such as IRX3, rather than FTO itself (PubMed:24646999, PubMed:26287746). A pathogenic intronic FTO variation (rs1421085) disrupts an evolutionarily conserved motif for ARID5B binding (PubMed:26287746). Loss of ARID5B binding results in overexpression of two genes distal to FTO, IRX3 and IRX5. IRX3 and IRX5 overexpression shifts pre-adipocytes differentiation from brown to white fat cells, resulting in increased lipid storage and loss of mitochondrial thermogenesis (PubMed:26287746). {ECO:0000269|PubMed:24646999, ECO:0000269|PubMed:26287746}.
Without disease ID
- A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. {ECO:0000269|PubMed:19559399, ECO:0000269|PubMed:22002720, ECO:0000269|PubMed:26378117, ECO:0000269|PubMed:26697951}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:24646999, ECO:0000269|PubMed:26287746}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. It is unclear whether variations associated with obesity directly affect FTO function or alter the expression of adjacent genes such as IRX3, rather than FTO itself (PubMed:24646999, PubMed:26287746). A pathogenic intronic FTO variation (rs1421085) disrupts an evolutionarily conserved motif for ARID5B binding (PubMed:26287746). Loss of ARID5B binding results in overexpression of two genes distal to FTO, IRX3 and IRX5. IRX3 and IRX5 overexpression shifts pre-adipocytes differentiation from brown to white fat cells, resulting in increased lipid storage and loss of mitochondrial thermogenesis (PubMed:26287746). {ECO:0000269|PubMed:24646999, ECO:0000269|PubMed:26287746}.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.11.53 | With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-N1-methyladenine dioxygenase activity | Catalysis of the oxidative demethylation of N1-methyladenine and N3-methylcytosine in DNA, with concomitant decarboxylation of 2-oxoglutarate and releases oxidized methyl group on N1-methyladenine and N3-methylcytosine as formaldehyde. |
| ferrous iron binding | Binding to a ferrous iron ion, Fe(II). |
| mRNA N6-methyladenosine dioxygenase activity | Catalysis of the oxidative demethylation of N6-methyladenosine RNA, with concomitant decarboxylation of 2-oxoglutarate and releases oxidized methyl group on N6-methyladenosine as formaldehyde. |
| oxidative DNA demethylase activity | Catalysis of the reaction: a methylated nucleobase within DNA + 2-oxoglutarate + O(2) = a nucleobase within DNA + formaldehyde + succinate + CO(2). |
| oxidative RNA demethylase activity | Catalysis of the removal of a methyl group from one or more nucleosides within a RNA molecule involving the oxidation (i.e. electron loss) of one or more atoms. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
| tRNA demethylase activity | Catalysis of the removal of a methyl group from one or more positions within a tRNA molecule. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| adipose tissue development | The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat. |
| DNA dealkylation involved in DNA repair | The repair of alkylation damage, e.g. the removal of the alkyl group at the O6-position of guanine by O6-alkylguanine-DNA alkyltransferase (AGT). |
| DNA demethylation | The removal of a methyl group from one or more nucleotides within an DNA molecule. |
| mRNA destabilization | Any process that decreases the stability of an mRNA molecule, making it more vulnerable to degradative processes. Messenger RNA is the intermediate molecule between DNA and protein. It includes UTR and coding sequences. It does not contain introns. |
| oxidative demethylation | The process of removing one or more methyl groups from a molecule, involving the oxidation (i.e. electron loss) of one or more atoms in the substrate. |
| oxidative single-stranded DNA demethylation | Removal of the methyl group from one or more nucleotides within a single-stranded DNA molecule involving the oxidation (i.e. electron loss) of one or more atoms. |
| oxidative single-stranded RNA demethylation | Removal of the methyl group from one or more nucleotides within a single-stranded RNA molecule involving the oxidation (i.e. electron loss) of one or more atoms. |
| regulation of brown fat cell differentiation | Any process that modulates the rate, frequency, or extent of brown fat cell differentiation. Brown fat cell differentiation is the process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria. |
| regulation of lipid storage | Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is 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. |
| regulation of multicellular organism growth | Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. |
| regulation of respiratory system process | Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. |
| regulation of white fat cell proliferation | Any process that modulates the frequency, rate or extent of white fat cell proliferation. |
| RNA repair | Any process that results in the repair of damaged RNA. |
| temperature homeostasis | A homeostatic process in which an organism modulates its internal body temperature. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BGW1 | Fto | Alpha-ketoglutarate-dependent dioxygenase FTO | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKRTPTAEER | EREAKKLRLL | EELEDTWLPY | LTPKDDEFYQ | QWQLKYPKLI | LREASSVSEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LHKEVQEAFL | TLHKHGCLFR | DLVRIQGKDL | LTPVSRILIG | NPGCTYKYLN | TRLFTVPWPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGSNIKHTEA | EIAAACETFL | KLNDYLQIET | IQALEELAAK | EKANEDAVPL | CMSADFPRVG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MGSSYNGQDE | VDIKSRAAYN | VTLLNFMDPQ | KMPYLKEEPY | FGMGKMAVSW | HHDENLVDRS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVAVYSYSCE | GPEEESEDDS | HLEGRDPDIW | HVGFKISWDI | ETPGLAIPLH | QGDCYFMLDD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LNATHQHCVL | AGSQPRFSST | HRVAECSTGT | LDYILQRCQL | ALQNVCDDVD | NDDVSLKSFE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PAVLKQGEEI | HNEVEFEWLR | QFWFQGNRYR | KCTDWWCQPM | AQLEALWKKM | EGVTNAVLHE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VKREGLPVEQ | RNEILTAILA | SLTARQNLRR | EWHARCQSRI | ARTLPADQKP | ECRPYWEKDD |
| 490 | 500 | ||||
| ASMPLPFDLT | DIVSELRGQL | LEAKP |