O60341
PR
Gene name |
KDM1A |
Protein name |
Lysine-specific histone demethylase 1A |
Names |
BRAF35-HDAC complex protein BHC110, Flavin-containing amine oxidase domain-containing protein 2, [histone H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23028 |
EC number |
1.14.99.66: Miscellaneous |
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
93 structures for O60341
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2COM | NMR | - | A | 169-279 | PDB |
| 2DW4 | X-ray | 230 A | A | 172-831 | PDB |
| 2EJR | X-ray | 270 A | A | 172-833 | PDB |
| 2H94 | X-ray | 290 A | A | 172-835 | PDB |
| 2HKO | X-ray | 280 A | A | 172-835 | PDB |
| 2IW5 | X-ray | 257 A | A | 171-836 | PDB |
| 2L3D | NMR | - | A | 174-273 | PDB |
| 2UXN | X-ray | 272 A | A | 171-836 | PDB |
| 2UXX | X-ray | 274 A | A | 171-836 | PDB |
| 2V1D | X-ray | 310 A | A | 123-852 | PDB |
| 2X0L | X-ray | 300 A | A | 123-852 | PDB |
| 2XAF | X-ray | 325 A | A | 1-852 | PDB |
| 2XAG | X-ray | 310 A | A | 1-852 | PDB |
| 2XAH | X-ray | 310 A | A | 1-852 | PDB |
| 2XAJ | X-ray | 330 A | A | 1-852 | PDB |
| 2XAQ | X-ray | 320 A | A | 1-852 | PDB |
| 2XAS | X-ray | 320 A | A | 1-852 | PDB |
| 2Y48 | X-ray | 300 A | A | 123-852 | PDB |
| 2Z3Y | X-ray | 225 A | A | 172-833 | PDB |
| 2Z5U | X-ray | 225 A | A | 172-833 | PDB |
| 3ABT | X-ray | 320 A | A | 172-833 | PDB |
| 3ABU | X-ray | 310 A | A | 172-833 | PDB |
| 3ZMS | X-ray | 296 A | A | 1-852 | PDB |
| 3ZMT | X-ray | 310 A | A | 1-852 | PDB |
| 3ZMU | X-ray | 320 A | A | 1-852 | PDB |
| 3ZMV | X-ray | 300 A | A | 1-852 | PDB |
| 3ZMZ | X-ray | 300 A | A | 1-852 | PDB |
| 3ZN0 | X-ray | 280 A | A | 1-852 | PDB |
| 3ZN1 | X-ray | 310 A | A | 1-852 | PDB |
| 4BAY | X-ray | 310 A | A | 172-852 | PDB |
| 4CZZ | X-ray | 300 A | A | 1-852 | PDB |
| 4KUM | X-ray | 305 A | A | 171-836 | PDB |
| 4UV8 | X-ray | 280 A | A | 1-852 | PDB |
| 4UV9 | X-ray | 300 A | A | 1-852 | PDB |
| 4UVA | X-ray | 290 A | A | 1-852 | PDB |
| 4UVB | X-ray | 280 A | A | 1-852 | PDB |
| 4UVC | X-ray | 310 A | A | 1-852 | PDB |
| 4UXN | X-ray | 285 A | A | 1-852 | PDB |
| 4XBF | X-ray | 280 A | A | 171-836 | PDB |
| 5AFW | X-ray | 160 A | B | 108-119 | PDB |
| 5H6Q | X-ray | 253 A | A | 172-833 | PDB |
| 5H6R | X-ray | 260 A | A | 172-833 | PDB |
| 5IT3 | X-ray | 140 A | A/B | 183-267 | PDB |
| 5L3B | X-ray | 330 A | A | 1-852 | PDB |
| 5L3C | X-ray | 331 A | A | 1-852 | PDB |
| 5L3D | X-ray | 260 A | A | 1-852 | PDB |
| 5L3E | X-ray | 280 A | A | 123-852 | PDB |
| 5L3F | X-ray | 350 A | A | 123-852 | PDB |
| 5L3G | X-ray | 310 A | A | 123-852 | PDB |
| 5LBQ | X-ray | 330 A | A | 123-852 | PDB |
| 5LGN | X-ray | 320 A | A | 172-836 | PDB |
| 5LGT | X-ray | 300 A | A | 123-852 | PDB |
| 5LGU | X-ray | 320 A | A | 123-852 | PDB |
| 5LHG | X-ray | 334 A | A | 1-852 | PDB |
| 5LHH | X-ray | 305 A | A | 1-852 | PDB |
| 5LHI | X-ray | 340 A | A | 1-852 | PDB |
| 5X60 | X-ray | 269 A | A | 172-833 | PDB |
| 5YJB | X-ray | 296 A | A | 172-833 | PDB |
| 6E1F | X-ray | 116 A | A/B/C/D | 183-267 | PDB |
| 6K3E | X-ray | 287 A | A | 172-833 | PDB |
| 6KGK | X-ray | 270 A | A | 172-833 | PDB |
| 6KGL | X-ray | 270 A | A | 172-833 | PDB |
| 6KGM | X-ray | 262 A | A | 172-833 | PDB |
| 6KGN | X-ray | 262 A | A | 172-833 | PDB |
| 6KGO | X-ray | 225 A | A | 172-833 | PDB |
| 6KGP | X-ray | 225 A | A | 172-833 | PDB |
| 6KGQ | X-ray | 232 A | A | 172-833 | PDB |
| 6KGR | X-ray | 232 A | A | 172-833 | PDB |
| 6NQM | X-ray | 290 A | A | 173-830 | PDB |
| 6NQU | X-ray | 270 A | A | 173-830 | PDB |
| 6NR5 | X-ray | 290 A | A | 173-830 | PDB |
| 6S35 | X-ray | 310 A | A | 172-833 | PDB |
| 6TE1 | X-ray | 311 A | A | 1-852 | PDB |
| 6TUY | X-ray | 260 A | A | 1-852 | PDB |
| 6VYP | X-ray | 499 A | K/M/k/m | 171-852 | PDB |
| 6W4K | X-ray | 293 A | A | 174-832 | PDB |
| 6WC6 | X-ray | 310 A | PDB | ||
| 7CDC | X-ray | 264 A | A | 172-833 | PDB |
| 7CDD | X-ray | 276 A | A | 172-833 | PDB |
| 7CDE | X-ray | 268 A | A | 172-833 | PDB |
| 7CDF | X-ray | 268 A | A | 172-833 | PDB |
| 7CDG | X-ray | 280 A | A | 172-833 | PDB |
| 7E0G | X-ray | 225 A | A | 172-833 | PDB |
| 7JJL | X-ray | 260 A | B | 104-129 | PDB |
| 7JJM | X-ray | 206 A | A | 104-129 | PDB |
| 7JK7 | X-ray | 196 A | A | 104-129 | PDB |
| 7VQS | X-ray | 294 A | A | 172-833 | PDB |
| 7VQT | X-ray | 291 A | A | 172-833 | PDB |
| 7VQU | X-ray | 294 A | A | 172-833 | PDB |
| 7W3L | X-ray | 251 A | A | 172-833 | PDB |
| 7XW8 | X-ray | 228 A | A | 172-833 | PDB |
| 7ZRY | X-ray | 270 A | A | 1-852 | PDB |
| AF-O60341-F1 | Predicted | AlphaFoldDB |
405 variants for O60341
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001329482 rs1641551328 |
44 | L>P | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198307 RCV002292616 rs144822945 CA679408 RCV001819887 |
46 | G>S | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001329483 rs1011602988 |
93 | S>Y | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266684 rs1641950789 |
140 | E>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553130904 RCV001527312 CA338964509 RCV000522656 |
375 | D>G | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM215525 RCV000203263 CA278781 rs864309715 VAR_076366 |
379 | E>K | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome central_nervous_system CPRF [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1553131717 RCV000656528 CA338969392 |
550 | K>E | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA278784 rs864309716 RCV000203268 VAR_076367 |
556 | D>G | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome CPRF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs767582484 RCV001280898 CA679872 |
635 | P>S | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000850331 rs1569834441 CA338972218 |
758 | R>Q | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_076368 RCV000203273 rs864309714 CA278787 |
761 | Y>H | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome CPRF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA19198638 rs970280901 |
3 | S>C | No |
ClinGen Ensembl |
|
|
CA679393 rs777155651 |
3 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA679394 rs762089754 |
4 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs980731872 CA19198664 |
5 | K>R | No |
ClinGen Ensembl |
|
|
CA338949840 rs1421557072 |
8 | A>V | No |
ClinGen gnomAD |
|
|
rs751277416 CA679397 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA19198737 rs759155607 |
10 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759155607 CA679399 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA679401 rs752226596 |
11 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755576939 CA679402 |
12 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755576939 COSM1185366 CA338949928 COSM1185365 |
12 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA338949935 rs1415312194 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs1287034202 CA338949947 |
13 | A>V | No |
ClinGen TOPMed |
|
|
CA338949979 rs1476914872 |
15 | A>V | No |
ClinGen Ensembl |
|
|
CA19198762 rs915595049 |
16 | A>V | No |
ClinGen TOPMed |
|
|
CA338950016 rs1337787141 |
17 | A>G | No |
ClinGen gnomAD |
|
|
rs1056135531 CA19198765 |
18 | A>T | No |
ClinGen Ensembl |
|
|
rs757056078 CA679405 |
19 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241993370 CA338950064 |
19 | T>S | No |
ClinGen gnomAD |
|
|
rs1341012672 CA338950086 |
20 | G>R | No |
ClinGen gnomAD |
|
|
rs1341012672 CA338950082 |
20 | G>W | No |
ClinGen gnomAD |
|
|
rs778766338 CA679406 |
23 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1045367169 CA19198792 |
23 | A>P | No |
ClinGen TOPMed |
|
|
rs1278354717 CA338950205 |
26 | G>R | No |
ClinGen gnomAD |
|
|
CA338950239 rs1445705856 |
27 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs886904176 CA19198826 |
34 | G>R | No |
ClinGen TOPMed |
|
|
CA338950623 rs1477552283 |
38 | A>S | No |
ClinGen gnomAD |
|
|
CA338950639 rs1259275386 |
39 | A>P | No |
ClinGen Ensembl |
|
|
rs1193929672 CA338950674 |
39 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1371918218 CA338950769 |
42 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1375048637 CA338950789 |
43 | G>D | No |
ClinGen gnomAD |
|
|
rs1569594519 CA338950852 |
45 | S>L | No |
ClinGen Ensembl |
|
|
CA338950935 rs1170657147 |
48 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780379172 CA679409 |
49 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576500517 CA679410 |
52 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338951084 rs1358497272 |
54 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA338951109 rs1453222016 |
54 | A>V | No |
ClinGen TOPMed |
|
|
CA338951114 rs1402678472 |
55 | V>L | No |
ClinGen gnomAD |
|
|
CA338951170 rs1336103070 |
57 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1295641186 CA338951247 |
59 | T>I | No |
ClinGen gnomAD |
|
|
rs1397930681 CA338951269 |
61 | R>S | No |
ClinGen gnomAD |
|
|
rs1569594856 CA338951403 |
63 | K>I | No |
ClinGen Ensembl |
|
|
rs543763800 CA679411 |
65 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1279752679 CA338951500 |
66 | P>S | No |
ClinGen TOPMed |
|
|
CA338951527 rs1230590449 |
67 | R>Q | No |
ClinGen gnomAD |
|
|
CA19198881 rs996794739 |
69 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA338951548 rs1336654174 |
69 | S>P | No |
ClinGen TOPMed |
|
|
CA338951585 rs1213416185 |
70 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777019410 CA679412 |
71 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1328924253 CA338951610 |
71 | P>H | No |
ClinGen TOPMed |
|
|
rs1265619269 CA338951679 |
73 | G>V | No |
ClinGen TOPMed |
|
|
RCV000519429 CA338951750 rs1319480409 |
77 | P>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1319480409 CA338951751 |
77 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338951754 rs1201399301 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs1263931264 CA338951853 |
81 | A>V | No |
ClinGen gnomAD |
|
|
CA19198897 rs376070008 |
82 | G>A | No |
ClinGen Ensembl |
|
|
rs1007413346 CA19198905 |
83 | P>L | No |
ClinGen Ensembl |
|
|
CA338951943 rs1028268931 |
85 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA19198908 rs1028268931 |
85 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA679416 rs773542591 |
86 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA679415 rs773542591 |
86 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19198933 rs891037050 |
86 | G>V | No |
ClinGen TOPMed |
|
|
CA19198938 rs901765557 |
87 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338952018 rs1454569751 |
87 | P>R | No |
ClinGen gnomAD |
|
|
rs752275854 CA679418 |
88 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1008935183 CA19198990 |
88 | T>I | No |
ClinGen TOPMed |
|
|
rs763643659 CA679420 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763643659 CA19198996 |
90 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19198998 rs1011602988 |
93 | S>C | No |
ClinGen Ensembl |
|
|
rs1183148474 CA338952208 |
94 | A>T | No |
ClinGen gnomAD |
|
|
rs200773378 CA679423 |
95 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967489080 CA19199008 |
95 | T>I | No |
ClinGen TOPMed |
|
|
CA338952240 rs750270450 |
96 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA338952245 rs1407555366 |
96 | P>R | No |
ClinGen TOPMed |
|
|
CA679424 rs750270450 |
96 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758232431 CA679425 |
97 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA338952301 rs1307489041 |
98 | E>Q | No |
ClinGen gnomAD |
|
|
CA679426 rs780428480 |
102 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338952386 rs1262946068 |
102 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA679427 rs747171915 |
105 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253925856 CA338952536 |
110 | T>A | No |
ClinGen gnomAD |
|
|
rs1469970659 CA338952546 |
110 | T>I | No |
ClinGen gnomAD |
|
|
rs1253925856 CA338952532 |
110 | T>P | No |
ClinGen gnomAD |
|
|
rs1418227969 CA338952659 |
114 | K>M | No |
ClinGen gnomAD |
|
|
CA338952680 rs1557484207 |
115 | R>Q | No |
ClinGen Ensembl |
|
|
rs866135352 CA19199045 |
115 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282208764 CA338956864 RCV000722878 |
120 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 120 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112725574 CA338957283 |
146 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs939909549 CA19204149 |
147 | K>R | No |
ClinGen gnomAD |
|
|
CA679453 rs774665623 |
150 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746691186 CA679454 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1235494028 CA338957350 |
154 | P>L | No |
ClinGen TOPMed |
|
|
CA338957354 rs1314051265 |
155 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA338957356 rs1314051265 |
155 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1424653093 CA338957371 |
158 | A>S | No |
ClinGen Ensembl |
|
|
rs267598419 CA19204165 |
160 | P>L | No |
ClinGen Ensembl |
|
|
rs201256608 CA679457 |
161 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338957445 rs1288331434 |
168 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338957475 rs1362999604 |
172 | S>W | No |
ClinGen gnomAD |
|
|
CA679505 rs753993807 |
173 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs765222197 CA679507 |
177 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA19213188 rs765222197 |
177 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338960923 rs1341951118 |
182 | R>* | No |
ClinGen gnomAD |
|
|
rs1232492318 CA338960924 |
182 | R>Q | No |
ClinGen gnomAD |
|
|
CA679509 rs758803358 |
185 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA679510 rs766818802 |
186 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA338960955 rs1288758605 |
187 | R>Q | No |
ClinGen gnomAD |
|
|
rs1386900503 CA338960974 |
190 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 192 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338961032 rs1222159654 |
198 | D>G | No |
ClinGen gnomAD |
|
|
rs752000598 CA679511 |
198 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs752000598 CA338961030 |
198 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA679512 rs755324811 |
199 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs777578073 CA679513 |
199 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748931758 CA679514 |
200 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA19213225 rs199943849 |
200 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA338961046 rs1451121697 |
201 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745866249 TCGA novel CA679517 |
205 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
| TCGA novel | 208 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61749351 CA679518 |
209 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452953761 CA338961110 |
210 | F>L | No |
ClinGen TOPMed |
|
|
rs1020522210 CA19213263 |
212 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746573541 CA19213267 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1318595188 CA338961153 |
216 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 219 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338961679 rs1305522209 |
223 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19215474 rs868503428 |
225 | P>S | No |
ClinGen Ensembl |
|
|
CA338961718 rs1569736718 |
226 | K>E | No |
ClinGen Ensembl |
|
|
rs745402417 CA679536 |
226 | K>R | No |
ClinGen ExAC |
|
|
rs1226768289 CA338961803 |
231 | F>L | No |
ClinGen TOPMed |
|
|
CA338961804 COSM3789659 rs1239941955 COSM3789658 |
232 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1501745 COSM1501746 rs1239941955 CA338961805 |
232 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA338961838 rs1569736821 |
234 | T>N | No |
ClinGen Ensembl |
|
|
rs1569736865 CA338961887 |
238 | L>I | No |
ClinGen Ensembl |
|
|
rs757859802 CA679537 |
241 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779979948 CA338961935 |
242 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779979948 CA679538 |
242 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA338961933 rs1211624248 |
242 | Y>N | No |
ClinGen TOPMed |
|
|
rs776382977 CA679541 |
244 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA338962070 rs1232495819 |
244 | S>N | No |
ClinGen gnomAD |
|
|
CA338962084 rs1167808679 |
245 | D>N | No |
ClinGen gnomAD |
|
|
rs1569741366 CA338962110 |
247 | V>L | No |
ClinGen Ensembl |
|
|
CA338962164 rs1357576596 |
250 | H>L | No |
ClinGen TOPMed |
|
|
rs1231258234 COSM3804385 COSM3804386 CA338962175 |
251 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 252 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA679566 rs759638292 |
252 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs753380832 | 253 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532200849 CA679568 |
254 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1241372946 CA338962268 |
256 | L>F | No |
ClinGen gnomAD |
|
|
rs1444148611 CA338962289 |
257 | E>D | No |
ClinGen gnomAD |
|
|
CA338962298 rs1258888061 |
258 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1569741626 CA338962314 |
259 | H>P | No |
ClinGen Ensembl |
|
|
rs964043934 CA19216452 |
262 | I>T | No |
ClinGen gnomAD |
|
|
CA679571 rs764506279 |
264 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA679573 rs762638667 |
266 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA338962445 rs1228804697 |
267 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA338962479 rs1484458549 |
269 | R>T | No |
ClinGen TOPMed |
|
|
CA338962494 rs1186274426 |
270 | I>L | No |
ClinGen TOPMed |
|
|
CA679574 rs375167986 |
270 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345603238 CA338962531 |
272 | P>H | No |
ClinGen gnomAD |
|
|
CA338962522 rs1420046052 |
272 | P>T | No |
ClinGen TOPMed |
|
|
rs1557553416 CA338962551 |
274 | P>L | No |
ClinGen Ensembl |
|
|
rs929755228 CA19216855 |
275 | T>I | No |
ClinGen gnomAD |
|
|
rs762121550 CA679592 |
280 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459034117 CA338962831 |
288 | V>I | No |
ClinGen gnomAD |
|
|
CA338962853 rs1272749711 |
289 | S>L | No |
ClinGen gnomAD |
|
|
CA338962894 rs1318805275 |
292 | A>V | No |
ClinGen gnomAD |
|
|
CA338962949 rs1439831779 |
296 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1047282041 CA19216867 |
299 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA338962982 rs1369607421 |
299 | S>N | No |
ClinGen gnomAD |
|
|
rs376593856 CA679597 |
303 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210211418 CA338963110 |
309 | A>V | No |
ClinGen gnomAD |
|
|
rs766981050 CA679614 |
312 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1473243412 CA338963529 |
312 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000677284 rs1553129293 CA338963545 |
315 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 315 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369524188 CA338963551 |
316 | R>* | No |
ClinGen TOPMed |
|
|
CA338963552 rs1468810802 |
316 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338963555 rs1415695856 |
317 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 321 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338963634 rs1339564800 |
328 | D>A | No |
ClinGen gnomAD |
|
|
CA338963631 rs1310537551 |
328 | D>Y | No |
ClinGen gnomAD |
|
|
CA338963670 rs1448319929 |
334 | V>I | No |
ClinGen gnomAD |
|
|
rs1270194809 CA338963733 |
342 | M>V | No |
ClinGen gnomAD |
|
|
rs1029067921 CA19218732 |
343 | A>V | No |
ClinGen Ensembl |
|
|
CA338963749 rs1466125779 |
344 | V>G | No |
ClinGen gnomAD |
|
|
CA679642 rs377748880 |
348 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA679643 rs765174122 |
350 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200002247 CA19218755 |
351 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1390360340 CA338963864 |
360 | C>S | No |
ClinGen gnomAD |
|
|
rs1293305330 CA338963881 |
363 | Y>H | No |
ClinGen gnomAD |
|
|
CA679646 rs766632876 |
366 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327361293 CA338963909 |
367 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338964577 rs1210933970 |
384 | R>Q | No |
ClinGen gnomAD |
|
|
rs1383401225 CA338964576 |
384 | R>W | No |
ClinGen TOPMed |
|
|
CA19224396 rs61739756 |
385 | L>W | No |
ClinGen Ensembl |
|
|
rs1192226672 CA338964617 |
391 | Y>H | No |
ClinGen gnomAD |
|
|
CA338964625 rs1427363167 |
392 | L>F | No |
ClinGen gnomAD |
|
|
rs1312228090 CA338964657 |
396 | L>Q | No |
ClinGen TOPMed |
|
|
CA679700 rs747793005 |
399 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755756173 CA338964695 |
402 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA679701 rs755756173 |
402 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs17854534 CA19224420 |
405 | P>H | No |
ClinGen Ensembl |
|
|
rs1322283712 CA338964728 |
406 | V>G | No |
ClinGen gnomAD |
|
|
rs1481317979 CA338967838 |
421 | K>R | No |
ClinGen TOPMed |
|
|
rs1196452506 CA338967859 |
424 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 427 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407528517 CA338967883 |
427 | Q>R | No |
ClinGen gnomAD |
|
|
CA19209692 rs924732544 |
433 | K>M | No |
ClinGen gnomAD |
|
|
CA338967962 rs1411286052 |
438 | Q>E | No |
ClinGen gnomAD |
|
|
rs974641856 CA338967976 |
439 | E>D | No |
ClinGen TOPMed |
|
|
CA679718 rs766849199 COSM679031 COSM679030 |
443 | E>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA679719 rs370506423 |
443 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1356120805 CA338968003 |
443 | E>G | No |
ClinGen gnomAD |
|
|
rs773662361 CA679735 |
451 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338968069 rs1399129732 |
451 | L>M | No |
ClinGen TOPMed |
|
|
CA679734 rs769906942 |
451 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA338968096 CA19210530 rs922690715 |
454 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1553131352 CA679736 |
455 | I>M | No |
ClinGen Ensembl |
|
|
rs1443198572 CA338968117 |
457 | E>D | No |
ClinGen gnomAD |
|
|
CA338968129 rs1212443097 |
459 | H>L | No |
ClinGen gnomAD |
|
|
rs752000302 CA679740 |
466 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759910549 CA679741 |
467 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1301285141 CA338968210 |
470 | P>L | No |
ClinGen TOPMed |
|
|
CA338968225 rs1170293720 |
473 | D>H | No |
ClinGen gnomAD |
|
|
CA19210554 rs977715321 |
476 | A>V | No |
ClinGen TOPMed |
|
|
CA338968309 rs1194958532 |
484 | H>Q | No |
ClinGen TOPMed |
|
|
CA338968338 rs758354898 |
489 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758354898 CA679747 |
489 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409574793 CA338968384 |
494 | Y>H | No |
ClinGen TOPMed |
|
|
CA338968395 rs1165384049 |
495 | D>G | No |
ClinGen gnomAD |
|
|
CA19210981 rs1051760785 |
501 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 502 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472066136 CA338968482 |
507 | K>N | No |
ClinGen gnomAD |
|
|
rs1159361116 CA338968505 |
510 | E>D | No |
ClinGen gnomAD |
|
|
rs774064976 COSM183372 CA679770 |
513 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1406916061 CA338968548 |
517 | S>G | No |
ClinGen gnomAD |
|
|
CA338969048 rs1244136352 |
519 | V>A | No |
ClinGen gnomAD |
|
|
CA338969041 rs1199472357 |
519 | V>I | No |
ClinGen gnomAD |
|
|
CA338969045 rs1199472357 |
519 | V>L | No |
ClinGen gnomAD |
|
|
rs757451253 CA679791 |
521 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA338969112 rs1557588544 |
525 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 527 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157642863 CA338969157 |
529 | L>F | No |
ClinGen TOPMed |
|
|
CA338969185 rs1435710328 |
531 | W>* | No |
ClinGen TOPMed |
|
|
rs745886321 CA679793 |
536 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA338969315 rs1256010214 |
543 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA338969317 rs1256010214 |
543 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 544 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338969339 rs1303600379 |
545 | S>* | No |
ClinGen gnomAD |
|
|
rs1318510214 CA338969354 |
546 | T>I | No |
ClinGen gnomAD |
|
|
rs915546595 CA19211536 |
554 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 554 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19213976 rs201010177 |
558 | F>S | No |
ClinGen Ensembl |
|
|
CA338969998 rs1161250372 |
561 | T>I | No |
ClinGen gnomAD |
|
|
CA338970026 rs1569816736 |
564 | H>P | No |
ClinGen Ensembl |
|
|
CA338970119 rs1303243768 |
572 | S>L | No |
ClinGen gnomAD |
|
|
CA338970135 rs1569816800 |
573 | C>W | No |
ClinGen Ensembl |
|
|
rs1407642449 CA338970163 |
576 | V>M | No |
ClinGen gnomAD |
|
|
rs1569816836 CA338970203 |
578 | L>F | No |
ClinGen Ensembl |
|
|
rs1287264975 CA338970206 |
579 | A>T | No |
ClinGen gnomAD |
|
|
CA679831 rs750587822 |
581 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA338970258 rs1557596012 RCV000722972 |
582 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 586 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385309917 CA338970398 |
591 | R>Q | No |
ClinGen TOPMed |
|
|
CA679833 rs779991328 |
593 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs376573463 CA679834 |
594 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1181760359 CA338970445 |
594 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA679835 rs537286746 |
596 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338970823 rs1217824799 |
599 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 600 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557598894 CA338970859 |
605 | V>M | No |
ClinGen Ensembl |
|
|
CA338970869 rs1331745866 |
606 | N>S | No |
ClinGen gnomAD |
|
|
CA338970881 rs1368056777 |
608 | R>C | No |
ClinGen TOPMed |
|
|
rs1453811094 CA338970884 |
608 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1363624048 CA338970896 |
610 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338970900 rs1230258982 |
611 | S>N | No |
ClinGen TOPMed |
|
|
CA338970922 rs1341507499 |
614 | F>Y | No |
ClinGen gnomAD |
|
|
rs772893561 CA679868 |
619 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA679866 rs769685262 |
619 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA338970964 rs1244958458 |
620 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1463503040 CA338970969 |
620 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1569822906 CA338970985 |
623 | C>Y | No |
ClinGen Ensembl |
|
|
CA19215338 rs951490579 |
624 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 628 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338971055 rs1463500275 |
634 | P>S | No |
ClinGen TOPMed |
|
|
CA338971062 rs1386819382 |
635 | P>L | No |
ClinGen gnomAD |
|
|
rs753263196 CA679873 |
636 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764596144 COSM381706 COSM381705 CA19215347 |
637 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764596144 CA679875 |
637 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282954004 CA338971094 |
640 | V>A | No |
ClinGen gnomAD |
|
|
CA338971103 rs1557599394 |
642 | P>S | No |
ClinGen Ensembl |
|
|
rs757593656 CA679877 |
646 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs746628310 CA679879 |
649 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs779900742 CA679878 |
649 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204508951 CA338971159 |
650 | A>V | No |
ClinGen gnomAD |
|
|
rs1319580394 CA338971168 |
652 | Q>* | No |
ClinGen gnomAD |
|
|
CA338971172 rs1448269423 |
652 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1160453011 CA338971215 |
658 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA679901 rs752176732 |
662 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs755597795 CA679902 |
663 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA19215634 rs996944521 |
664 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1396039027 CA338971292 |
668 | R>G | No |
ClinGen gnomAD |
|
|
rs770774361 CA679906 |
668 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA19215657 rs776047552 |
674 | S>G | No |
ClinGen TOPMed |
|
|
CA338971336 rs1252976530 |
674 | S>N | No |
ClinGen TOPMed |
|
|
CA338971370 rs1337264516 |
679 | G>W | No |
ClinGen gnomAD |
|
|
rs986563761 CA19215673 |
681 | V>A | No |
ClinGen TOPMed |
|
|
CA19215667 rs955553273 |
681 | V>I | No |
ClinGen Ensembl |
|
|
rs1243707840 CA338971406 |
684 | T>M | No |
ClinGen gnomAD |
|
|
CA338971446 rs1359582509 |
690 | E>D | No |
ClinGen gnomAD |
|
|
rs1557600534 CA338971489 |
696 | N>I | No |
ClinGen Ensembl |
|
|
rs920833527 CA19217190 |
702 | I>V | No |
ClinGen Ensembl |
|
|
rs1326673098 CA338971661 |
705 | A>V | No |
ClinGen TOPMed |
|
|
CA338971673 rs1306375239 |
707 | V>L | No |
ClinGen gnomAD |
|
|
CA338971671 rs1306375239 |
707 | V>M | No |
ClinGen gnomAD |
|
|
CA679921 rs755649669 |
710 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs930944658 CA19217201 |
713 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19217204 rs963949075 |
717 | N>K | No |
ClinGen TOPMed |
|
|
CA679923 rs753231524 |
718 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA19217210 rs1057136800 |
719 | S>N | No |
ClinGen TOPMed |
|
|
rs983749972 CA19217214 |
720 | D>N | No |
ClinGen Ensembl |
|
|
COSM3418913 rs759735931 COSM3418912 CA679925 |
721 | D>N | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA679927 rs771833144 |
727 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1274416292 CA338971884 |
727 | C>S | No |
ClinGen TOPMed |
|
|
rs867509807 CA19217228 |
729 | A>T | No |
ClinGen Ensembl |
|
|
rs1468089578 CA338971931 |
731 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 735 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA679928 rs780178707 |
737 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1286998476 CA338972029 |
740 | V>A | No |
ClinGen gnomAD |
|
|
CA679929 rs747250610 |
740 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA679948 rs779884800 |
744 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs371062465 CA19217542 |
750 | R>H | No |
ClinGen ESP TOPMed |
|
|
CA338972146 rs1218474953 |
751 | W>* | No |
ClinGen gnomAD |
|
|
CA338972150 rs1289726178 |
752 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 752 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338972163 rs1490193629 |
753 | A>V | No |
ClinGen gnomAD |
|
|
CA679952 rs375857147 |
763 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 773 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905136138 CA19217561 |
777 | A>T | No |
ClinGen Ensembl |
|
|
COSM1296008 CA679954 COSM1296009 rs773927280 |
780 | I>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA338972464 rs1569834631 |
781 | T>N | No |
ClinGen Ensembl |
|
|
CA338972478 rs1489979736 |
783 | G>S | No |
ClinGen gnomAD |
|
|
CA338972495 rs1287803225 |
784 | P>L | No |
ClinGen TOPMed |
|
|
CA679955 rs377608361 |
784 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771287901 CA679956 |
785 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA338972512 rs1487068117 |
786 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 787 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19217597 rs951398623 |
787 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA338972536 rs1367036786 |
789 | A>T | No |
ClinGen gnomAD |
|
|
CA19217598 rs551312389 |
790 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs763832402 CA679959 |
791 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA679977 rs61758869 |
792 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 793 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM905722 COSM905723 CA679979 rs746295431 |
795 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1474129132 CA338972711 |
795 | R>Q | No |
ClinGen gnomAD |
|
|
CA679981 rs776333269 |
799 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406791733 CA338972768 |
803 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 804 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338972776 rs1177272085 |
805 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA679984 rs769378240 |
805 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA679983 rs769378240 |
805 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA679985 rs762328740 |
807 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA338972808 rs1468534928 |
810 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 812 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338972838 rs1430092695 |
814 | A>G | No |
ClinGen gnomAD |
|
|
CA338972835 rs1324799909 |
814 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 830 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19218082 rs1054782634 |
831 | G>R | No |
ClinGen TOPMed |
|
|
rs1444847721 CA338972955 |
833 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 834 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs917558475 CA19218088 |
835 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM905725 COSM905724 rs779514366 CA679995 |
838 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA679996 rs746357822 |
838 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1429057112 CA338973000 |
840 | A>T | No |
ClinGen gnomAD |
|
|
rs1258703042 CA338973015 |
842 | P>Q | No |
ClinGen TOPMed |
|
|
CA338973013 rs1222662883 |
842 | P>S | No |
ClinGen TOPMed |
|
|
CA679998 rs780409558 |
844 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs866570649 CA19218111 |
846 | A>V | No |
ClinGen Ensembl |
|
|
rs1383418001 CA338973045 |
847 | Q>L | No |
ClinGen gnomAD |
|
|
rs1231766466 CA338973052 |
848 | Q>R | No |
ClinGen TOPMed |
|
|
CA338973058 rs1557608383 |
849 | S>P | No |
ClinGen Ensembl |
|
|
CA338973069 rs1400572301 |
851 | S>G | No |
ClinGen gnomAD |
|
|
CA679999 rs748733661 |
852 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with O60341
[MIM: 616728]: Cleft palate, psychomotor retardation, and distinctive facial features (CPRF)
A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion. {ECO:0000269|PubMed:23020937, ECO:0000269|PubMed:24838796, ECO:0000269|PubMed:26656649}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion. {ECO:0000269|PubMed:23020937, ECO:0000269|PubMed:24838796, ECO:0000269|PubMed:26656649}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.99.66 | Miscellaneous |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| DNA repair complex | A protein complex involved in DNA repair processes including direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
17 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. |
| demethylase activity | Catalysis of the removal of a methyl group from a substrate. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| histone demethylase activity | Catalysis of the removal of a methyl group from a histone. |
| histone H3-di/monomethyl-lysine-4 FAD-dependent demethylase activity | Catalysis of the removal of a methyl group from a di- or a monomethyl-lysine residue at position 4 of the histone H3 protein. This is a flavin adenine dinucleotide (FAD)-dependent amine oxidation reaction. |
| histone H3-methyl-lysine-4 demethylase activity | Catalysis of the removal of a methyl group from a modified lysine residue at position 4 of the histone H3 protein. |
| histone H3-methyl-lysine-9 demethylase activity | Catalysis of the removal of a methyl group from a modified lysine residue at position 9 of the histone H3 protein. |
| MRF binding | Binding to Myogenic Regulatory Factor (MRF), a member of the basic Helix-Loop-Helix (bHLH) superfamily of transcription factors. |
| nuclear androgen receptor binding | Binding to a nuclear androgen receptor. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| p53 binding | Binding to one of the p53 family of proteins. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| 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. |
| telomeric repeat-containing RNA binding | Binding to long non-coding RNA molecules transcribed from subtelomeric regions in most eukaryotes. Telomeric repeat-containing RNA (TERRA) molecules consist of subtelomeric-derived sequences and G-rich telomeric repeats. |
37 GO annotations of biological process
| Name | Definition |
|---|---|
| alternative mRNA splicing, via spliceosome | The process of generating multiple mRNA molecules from a given set of exons by differential use of exons from the primary transcript(s) to form multiple mature mRNAs that vary in their exon composition. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cellular response to gamma radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| guanine metabolic process | The chemical reactions and pathways involving guanine, 2-amino-6-hydroxypurine, a purine that is one of the five main bases found in nucleic acids and a component of a number of phosphorylated guanosine derivatives whose metabolic or regulatory functions are important. |
| histone H3-K4 demethylation | The modification of histone H3 by the removal of a methyl group from lysine at position 4 of the histone. |
| histone H3-K9 demethylation | The modification of histone H3 by the removal of a methyl group from lysine at position 9 of the histone. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| negative regulation of DNA binding | Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
| negative regulation of DNA damage response, signal transduction by p53 class mediator | Any process that stops, prevents, or reduces the frequency, rate or extent of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of histone H3-K4 methylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3. |
| negative regulation of histone H3-K9 methylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 9 of histone H3. |
| negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| neuron maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state. |
| positive regulation of cell size | Any process that increases cell size. |
| positive regulation of chromatin binding | Any process that increases the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of histone ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of a ubiquitin group to a histone protein. |
| positive regulation of neural precursor cell proliferation | Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation. |
| positive regulation of neuroblast proliferation | Any process that activates or increases the rate of neuroblast proliferation. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of stem cell proliferation | Any process that activates or increases the frequency, rate or extent of stem cell proliferation. |
| 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. |
| protein demethylation | The removal of a methyl group, from a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom. |
| regulation of androgen receptor signaling pathway | Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. |
| regulation of DNA methylation-dependent heterochromatin assembly | Any process that modulates the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation. |
| regulation of double-strand break repair via homologous recombination | Any process that modulates the frequency, rate or extent of the error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| 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 fungicide | 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 fungicide stimulus. Fungicides are chemicals used to kill fungi. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P56560 | MAOB | Amine oxidase [flavin-containing] B | Bos taurus (Bovine) | PR |
| P21398 | MAOA | Amine oxidase [flavin-containing] A | Bos taurus (Bovine) | PR |
| P21397 | MAOA | Amine oxidase [flavin-containing] A | Homo sapiens (Human) | PR |
| P27338 | MAOB | Amine oxidase [flavin-containing] B | Homo sapiens (Human) | PR |
| Q9NWM0 | SMOX | Spermine oxidase | Homo sapiens (Human) | PR |
| Q8NB78 | KDM1B | Lysine-specific histone demethylase 2 | Homo sapiens (Human) | PR |
| Q64133 | Maoa | Amine oxidase [flavin-containing] A | Mus musculus (Mouse) | PR |
| Q6ZQ88 | Kdm1a | Lysine-specific histone demethylase 1A | Mus musculus (Mouse) | PR |
| Q6Q2J0 | MAOA | Amine oxidase [flavin-containing] A | Sus scrofa (Pig) | PR |
| P19643 | Maob | Amine oxidase [flavin-containing] B | Rattus norvegicus (Rat) | PR |
| P21396 | Maoa | Amine oxidase [flavin-containing] A | Rattus norvegicus (Rat) | PR |
| P28554 | PDS | 15-cis-phytoene desaturase, chloroplastic/chromoplastic | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| Q6NSN2 | mao | Amine oxidase [flavin-containing] | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSGKKAAAA | AAAAAAAATG | TEAGPGTAGG | SENGSEVAAQ | PAGLSGPAEV | GPGAVGERTP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKKEPPRASP | PGGLAEPPGS | AGPQAGPTVV | PGSATPMETG | IAETPEGRRT | SRRKRAKVEY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REMDESLANL | SEDEYYSEEE | RNAKAEKEKK | LPPPPPQAPP | EEENESEPEE | PSGVEGAAFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SRLPHDRMTS | QEAACFPDII | SGPQQTQKVF | LFIRNRTLQL | WLDNPKIQLT | FEATLQQLEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PYNSDTVLVH | RVHSYLERHG | LINFGIYKRI | KPLPTKKTGK | VIIIGSGVSG | LAAARQLQSF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GMDVTLLEAR | DRVGGRVATF | RKGNYVADLG | AMVVTGLGGN | PMAVVSKQVN | MELAKIKQKC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PLYEANGQAV | PKEKDEMVEQ | EFNRLLEATS | YLSHQLDFNV | LNNKPVSLGQ | ALEVVIQLQE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KHVKDEQIEH | WKKIVKTQEE | LKELLNKMVN | LKEKIKELHQ | QYKEASEVKP | PRDITAEFLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KSKHRDLTAL | CKEYDELAET | QGKLEEKLQE | LEANPPSDVY | LSSRDRQILD | WHFANLEFAN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ATPLSTLSLK | HWDQDDDFEF | TGSHLTVRNG | YSCVPVALAE | GLDIKLNTAV | RQVRYTASGC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EVIAVNTRST | SQTFIYKCDA | VLCTLPLGVL | KQQPPAVQFV | PPLPEWKTSA | VQRMGFGNLN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KVVLCFDRVF | WDPSVNLFGH | VGSTTASRGE | LFLFWNLYKA | PILLALVAGE | AAGIMENISD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DVIVGRCLAI | LKGIFGSSAV | PQPKETVVSR | WRADPWARGS | YSYVAAGSSG | NDYDLMAQPI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TPGPSIPGAP | QPIPRLFFAG | EHTIRNYPAT | VHGALLSGLR | EAGRIADQFL | GAMYTLPRQA |
| 850 | |||||
| TPGVPAQQSP | SM |