Q8NB78
PR
Gene name |
KDM1B |
Protein name |
Lysine-specific histone demethylase 2 |
Names |
Flavin-containing amine oxidase domain-containing protein 1, Lysine-specific histone demethylase 1B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221656 |
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
16 structures for Q8NB78
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4FWE | X-ray | 213 A | A | 30-822 | PDB |
| 4FWF | X-ray | 270 A | A | 30-822 | PDB |
| 4FWJ | X-ray | 290 A | A/B | 30-822 | PDB |
| 4GU0 | X-ray | 310 A | A/B/C/D | 51-822 | PDB |
| 4GU1 | X-ray | 294 A | A/B | 51-822 | PDB |
| 4GUR | X-ray | 251 A | A | 51-822 | PDB |
| 4GUS | X-ray | 223 A | A | 51-822 | PDB |
| 4GUT | X-ray | 200 A | A | 51-822 | PDB |
| 4GUU | X-ray | 230 A | A | 51-822 | PDB |
| 4HSU | X-ray | 199 A | A | 51-822 | PDB |
| 6R1U | EM | 436 A | K | 51-822 | PDB |
| 6R25 | EM | 461 A | K | 51-822 | PDB |
| 7XE1 | X-ray | 207 A | A/B | 30-822 | PDB |
| 7XE2 | X-ray | 205 A | A/B | 30-822 | PDB |
| 7XE3 | X-ray | 282 A | A/B | 30-822 | PDB |
| AF-Q8NB78-F1 | Predicted | AlphaFoldDB |
470 variants for Q8NB78
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3650352 rs759451852 |
3 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA362842119 rs1157665748 |
3 | T>I | No |
ClinGen gnomAD |
|
|
rs1413880895 CA362842128 |
4 | P>A | No |
ClinGen gnomAD |
|
|
rs752703290 CA3650354 |
5 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765364765 CA3650353 |
5 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs751989720 CA3650357 |
6 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407736472 CA362842157 |
6 | G>V | No |
ClinGen gnomAD |
|
|
rs751989720 CA362842148 |
6 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472189801 CA362842179 |
8 | T>A | No |
ClinGen TOPMed |
|
|
CA3650358 rs757605710 |
8 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA362842195 rs1328307600 COSM3777349 |
9 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs781673414 CA3650359 |
10 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3650360 rs746436157 |
11 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650361 rs746436157 |
11 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362842279 rs1278020464 |
14 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3650362 rs778572531 |
15 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650363 rs778572531 |
15 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134973899 rs200534471 |
16 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs374956372 CA3650364 |
18 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3650366 rs746651247 |
20 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3650368 rs373380702 |
20 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451988791 CA362842412 |
22 | P>L | No |
ClinGen gnomAD |
|
|
rs759470454 CA3650369 |
25 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs200978983 CA3650370 |
27 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3650391 rs148087354 |
30 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1582074543 CA362842660 |
34 | A>T | No |
ClinGen Ensembl |
|
|
CA362842665 rs1340969718 |
34 | A>V | No |
ClinGen gnomAD |
|
|
CA3650394 rs115866051 RCV000965699 |
35 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756585662 CA3650395 |
36 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs140118994 CA3650396 |
37 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3650397 rs185273234 |
39 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362842710 rs1183086626 |
40 | E>D | No |
ClinGen gnomAD |
|
|
CA3650398 rs755500826 |
42 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA134974368 rs746467131 |
43 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650400 rs746467131 |
43 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392358548 CA362842751 |
44 | G>R | No |
ClinGen gnomAD |
|
|
rs756922094 CA3650401 |
45 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs995782092 CA134974373 |
46 | S>L | No |
ClinGen gnomAD |
|
|
rs938166562 CA134974375 |
49 | K>* | No |
ClinGen TOPMed |
|
|
CA3650405 rs769630199 |
50 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3650407 rs749252048 |
58 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA3650408 rs146369504 |
59 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3650409 rs146369504 |
59 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1228868035 CA362842966 |
60 | A>V | No |
ClinGen gnomAD |
|
|
CA3650411 rs772245707 |
61 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362842967 rs772245707 |
61 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362842979 rs1310049200 |
62 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773616620 CA3650412 |
64 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362843061 rs1485270467 |
68 | S>N | No |
ClinGen gnomAD |
|
|
rs760965371 CA3650413 |
70 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1284688889 CA362843247 |
73 | C>* | No |
ClinGen gnomAD |
|
|
rs921225400 CA134975235 COSM182210 |
77 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3650441 rs116051813 |
78 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1582078539 CA362843307 |
79 | T>P | No |
ClinGen Ensembl |
|
|
rs1288356196 CA362843354 |
83 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362843349 rs1233148990 |
83 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3650443 rs749869144 |
84 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650444 rs755777440 |
85 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA134975242 rs978620312 |
87 | C>S | No |
ClinGen Ensembl |
|
|
CA3650447 rs754850119 |
90 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1197029807 CA362843444 |
95 | C>* | No |
ClinGen gnomAD |
|
|
CA3650448 rs778558910 |
102 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA362843493 rs1198500277 |
102 | S>R | No |
ClinGen TOPMed |
|
|
CA362843588 COSM1076374 rs1305376742 |
104 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362843598 rs1443089201 |
105 | D>G | No |
ClinGen gnomAD |
|
|
rs1187174496 CA362843608 |
106 | G>V | No |
ClinGen TOPMed |
|
|
CA3650471 rs757409247 |
109 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781119907 CA3650472 |
111 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA362843670 rs1190248907 |
112 | T>A | No |
ClinGen gnomAD |
|
|
rs746168998 CA3650473 |
115 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362843721 rs1477470691 |
116 | I>K | No |
ClinGen gnomAD |
|
|
CA3650474 rs149694322 |
116 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3650476 rs775849938 |
118 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1009477649 CA134977221 |
119 | S>R | No |
ClinGen TOPMed |
|
|
rs1277563111 CA362843755 |
119 | S>T | No |
ClinGen TOPMed |
|
|
CA3650477 rs771268513 |
120 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387071136 CA362843791 |
123 | T>A | No |
ClinGen gnomAD |
|
|
rs1346443424 CA362843796 |
123 | T>I | No |
ClinGen TOPMed |
|
|
CA362843799 rs1321605884 |
124 | E>K | No |
ClinGen gnomAD |
|
|
CA3650482 rs367866866 |
127 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3650483 rs367866866 |
127 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367866866 CA362843833 |
127 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362843890 rs1346063593 |
132 | A>E | No |
ClinGen gnomAD |
|
|
CA134977238 rs920884016 |
134 | Q>R | No |
ClinGen Ensembl |
|
|
rs530604122 CA3650485 |
135 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1326960062 CA362843950 |
138 | Y>C | No |
ClinGen gnomAD |
|
|
rs1306422029 CA362823169 |
140 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3650513 rs372577998 |
144 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362823233 rs1339778468 |
149 | K>R | No |
ClinGen gnomAD |
|
|
CA362823255 rs1561913238 |
152 | Q>* | No |
ClinGen Ensembl |
|
|
rs1242566263 CA362823270 |
154 | T>I | No |
ClinGen gnomAD |
|
|
rs1242566263 CA362823272 |
154 | T>S | No |
ClinGen gnomAD |
|
|
CA362823277 rs1285691701 |
155 | K>R | No |
ClinGen gnomAD |
|
|
CA362823294 rs1203924550 |
157 | I>M | No |
ClinGen gnomAD |
|
|
rs150550931 CA134959876 COSM107974 |
157 | I>T | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1356812165 CA362823290 |
157 | I>V | No |
ClinGen gnomAD |
|
|
rs755123645 CA3650515 |
158 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3650514 rs754124483 |
158 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205229170 CA362823302 |
159 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs992759104 CA134959882 |
159 | L>P | No |
ClinGen TOPMed |
|
|
rs1363763259 CA362823316 |
161 | P>L | No |
ClinGen TOPMed |
|
|
CA3650516 rs149734475 |
162 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1422543853 CA362823337 |
164 | A>V | No |
ClinGen gnomAD |
|
|
rs772665701 CA3650518 |
165 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1449242707 CA362823349 |
166 | T>I | No |
ClinGen gnomAD |
|
|
rs375309615 COSM1076376 CA134959893 |
168 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs538876637 CA3650520 |
168 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362823372 rs1561913417 |
170 | G>D | No |
ClinGen Ensembl |
|
|
rs148414190 CA3650522 |
170 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362823381 rs1394167930 |
171 | M>I | No |
ClinGen gnomAD |
|
|
CA362823399 rs1470989422 |
174 | N>D | No |
ClinGen TOPMed |
|
|
rs762700618 CA3650523 |
176 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3650525 rs768366111 |
177 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768366111 CA3650524 |
177 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650540 rs747539162 |
180 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650541 rs757772885 |
183 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3650542 rs779724861 |
185 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199529514 CA3650544 |
189 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs969455004 CA134963706 |
193 | V>I | No |
ClinGen gnomAD |
|
|
rs1318121738 CA565558912 |
194 | L>M | No |
ClinGen gnomAD |
|
|
CA1613564503 rs1582142384 |
198 | N>D | No |
ClinGen Ensembl |
|
|
rs759652209 CA3650554 |
199 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA565558914 rs759652209 |
199 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489565020 CA565558915 |
200 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA565558916 rs1200442801 |
201 | W>* | No |
ClinGen gnomAD |
|
|
rs752298447 CA134963707 |
203 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1471652199 CA565558917 |
204 | M>T | No |
ClinGen gnomAD |
|
|
rs987847729 CA134963708 |
204 | M>V | No |
ClinGen TOPMed |
|
|
CA565558918 rs1184517734 |
205 | L>F | No |
ClinGen gnomAD |
|
|
rs1401270309 CA565558920 |
208 | P>T | No |
ClinGen gnomAD |
|
|
rs913564227 CA134963709 |
209 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3650555 rs541442195 |
213 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3650557 rs758643519 |
215 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA822707566 rs1374929396 |
216 | A>V | No |
ClinGen TOPMed |
|
|
rs931550253 CA134963710 |
217 | A>V | No |
ClinGen gnomAD |
|
|
CA1613564595 rs1582142589 |
224 | Y>S | No |
ClinGen Ensembl |
|
|
CA565558924 rs1310964237 |
226 | D>Y | No |
ClinGen gnomAD |
|
|
rs773520302 CA134963712 |
228 | V>A | No |
ClinGen Ensembl |
|
|
CA822707577 rs1386762665 |
228 | V>L | No |
ClinGen TOPMed |
|
|
rs1323890260 CA565558925 |
229 | G>D | No |
ClinGen gnomAD |
|
|
CA565558926 rs1223415492 |
230 | M>L | No |
ClinGen gnomAD |
|
|
CA134963714 rs778080275 |
230 | M>T | No |
ClinGen gnomAD |
|
|
rs1582142707 CA1613564705 |
238 | N>T | No |
ClinGen Ensembl |
|
|
rs144267308 CA3650560 |
239 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760949247 CA134963716 |
239 | R>H | No |
ClinGen gnomAD |
|
|
rs1337555943 CA565558929 |
240 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746350406 CA3650562 |
241 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA565558931 rs939938288 |
243 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA565558930 rs1389154675 |
243 | T>P | No |
ClinGen gnomAD |
|
|
CA134963718 rs939938288 |
243 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1309274378 CA565558932 |
244 | G>V | No |
ClinGen gnomAD |
|
|
CA565558933 rs1354633837 |
245 | N>S | No |
ClinGen gnomAD |
|
|
CA565558934 rs1447867931 |
246 | A>T | No |
ClinGen gnomAD |
|
|
rs1301608551 CA565558935 |
247 | S>T | No |
ClinGen gnomAD |
|
|
CA134963719 rs898487978 |
253 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1247152031 CA565558936 |
253 | H>Y | No |
ClinGen gnomAD |
|
|
rs1340268162 CA565558937 |
258 | L>F | No |
ClinGen gnomAD |
|
|
rs752126498 CA3650565 |
260 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134963721 rs757689605 |
261 | H>P | No |
ClinGen gnomAD |
|
|
rs1235660093 CA565558938 |
262 | V>I | No |
ClinGen gnomAD |
|
|
rs1451964646 CA565559102 |
264 | G>D | No |
ClinGen gnomAD |
|
|
CA565559103 rs1477517611 |
265 | M>V | No |
ClinGen gnomAD |
|
|
rs1430835643 CA565559105 |
267 | R>* | No |
ClinGen gnomAD |
|
|
CA822709302 rs1238836151 |
267 | R>Q | No |
ClinGen Ensembl |
|
|
rs1470563772 CA565559106 |
271 | P>T | No |
ClinGen gnomAD |
|
|
CA134964471 rs3822912 |
272 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA565559107 rs1386826599 |
273 | Y>C | No |
ClinGen gnomAD |
|
|
CA565559108 rs1459153846 |
274 | Q>E | No |
ClinGen gnomAD |
|
|
rs1386879766 CA822709319 |
276 | N>S | No |
ClinGen TOPMed |
|
|
rs1330719875 CA565559110 |
279 | G>V | No |
ClinGen gnomAD |
|
|
CA822709328 rs1369067307 |
281 | A>V | No |
ClinGen TOPMed |
|
|
rs775574395 CA3650573 |
287 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs767831735 CA565559111 |
292 | D>G | No |
ClinGen gnomAD |
|
|
rs767831735 CA134964476 |
292 | D>V | No |
ClinGen gnomAD |
|
|
CA565559114 rs1363897606 |
302 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1160188795 CA822709359 |
302 | R>Q | No |
ClinGen TOPMed |
|
|
CA822709360 rs1455570226 |
304 | P>S | No |
ClinGen TOPMed |
|
|
CA134964478 rs927848878 |
305 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1054868048 CA134964482 |
306 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3650574 rs148413251 |
306 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1271134158 CA822709370 |
307 | Y>* | No |
ClinGen TOPMed |
|
|
rs941218973 CA134964489 |
309 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs957377565 CA134964487 |
309 | A>S | No |
ClinGen TOPMed |
|
|
rs1180912886 CA565559118 |
313 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1471470131 CA565559119 |
316 | A>T | No |
ClinGen gnomAD |
|
|
CA822709379 rs1233519496 |
317 | L>M | No |
ClinGen TOPMed |
|
|
CA134964496 rs1038169637 |
319 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA565559121 rs1159478613 |
319 | Y>H | No |
ClinGen gnomAD |
|
|
CA822709382 rs1275698685 |
320 | T>A | No |
ClinGen TOPMed |
|
|
CA822709383 rs1399355075 |
323 | K>R | No |
ClinGen TOPMed |
|
|
rs777439388 CA3650587 |
325 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650589 rs770770489 |
326 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1398760591 CA362829840 |
327 | T>I | No |
ClinGen gnomAD |
|
|
rs1398760591 CA362829844 |
327 | T>N | No |
ClinGen gnomAD |
|
|
CA3650590 rs780959231 |
328 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561937730 CA362829908 |
331 | C>R | No |
ClinGen Ensembl |
|
|
CA134965883 rs893610902 |
331 | C>Y | No |
ClinGen Ensembl |
|
|
rs945228876 CA134965885 |
332 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1417555973 CA362829954 |
334 | H>Q | No |
ClinGen gnomAD |
|
|
rs745796379 CA3650591 |
335 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3650592 rs769716545 |
336 | I>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1736896 CA3650594 rs201513146 |
337 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs189561999 CA3650597 |
338 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs528312100 CA3650596 |
338 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3650598 rs762116514 |
341 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362830011 rs762116514 |
341 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650599 rs768063926 COSM3784471 |
342 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1289896569 CA362830021 |
343 | I>V | No |
ClinGen Ensembl |
|
|
rs1233645417 CA362830028 |
344 | R>* | No |
ClinGen TOPMed |
|
|
CA134965902 rs1057172622 |
344 | R>Q | No |
ClinGen TOPMed |
|
|
CA3650603 rs754264817 COSM1076380 |
346 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA362830064 rs1302345372 |
347 | Q>R | No |
ClinGen gnomAD |
|
|
rs1289783487 CA362830084 |
349 | V>M | No |
ClinGen TOPMed |
|
|
CA362830107 rs1401510050 |
351 | R>* | No |
ClinGen TOPMed |
|
|
CA362830126 rs1373222622 |
352 | I>M | No |
ClinGen TOPMed |
|
|
rs1561937929 CA362830130 |
353 | L>M | No |
ClinGen Ensembl |
|
|
rs757975803 CA3650604 |
354 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369907680 CA134965911 |
357 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369907680 CA3650605 |
357 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3650606 rs751277506 |
358 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3650607 rs142151525 |
358 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867620174 CA134965918 |
360 | G>S | No |
ClinGen Ensembl |
|
|
rs745629327 CA3650609 |
367 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs780081700 CA3650611 |
368 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750152791 CA3650613 |
369 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993674496 CA134965927 |
370 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1343439724 CA362830400 |
370 | G>R | No |
ClinGen gnomAD |
|
|
CA3650615 rs147829792 |
372 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362830462 rs1264111366 |
373 | Q>R | No |
ClinGen gnomAD |
|
|
rs1308619072 CA362830482 |
374 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs141598797 CA3650617 |
375 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362830522 rs1198212564 |
376 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1483588090 CA362830537 |
377 | P>A | No |
ClinGen TOPMed |
|
|
rs766626436 CA3650619 |
379 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468124441 CA362830575 |
379 | D>Y | No |
ClinGen gnomAD |
|
|
rs1307399882 CA362830613 |
380 | Y>C | No |
ClinGen TOPMed |
|
|
rs1406820939 CA362830604 |
380 | Y>H | No |
ClinGen gnomAD |
|
|
CA3650620 rs777251737 |
382 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650650 rs138145635 |
384 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3650653 rs748073152 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA362830893 rs978311205 CA134966096 |
389 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362830895 rs978311205 |
389 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3650656 rs747259057 |
390 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3650658 rs569055400 |
392 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1324050708 CA362830942 |
392 | P>Q | No |
ClinGen gnomAD |
|
|
CA3650660 rs143164118 |
396 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs771065158 CA3650661 |
399 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA362831067 rs1247013022 |
402 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771682921 CA3650663 |
402 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362832591 rs1184047182 |
410 | V>F | No |
ClinGen gnomAD |
|
|
rs772804769 CA3650684 |
414 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368068425 CA3650686 |
416 | R>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1222347190 CA362832907 |
417 | I>N | No |
ClinGen TOPMed |
|
|
CA362832968 COSM1672258 rs549703362 |
420 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs759254241 CA3650688 |
421 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3650689 rs765127052 |
422 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3650690 rs752480745 |
427 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320366361 CA362833151 |
428 | K>E | No |
ClinGen gnomAD |
|
|
rs762970046 CA3650691 |
428 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763897080 CA3650692 |
429 | G>D | No |
ClinGen ExAC |
|
|
rs781320251 CA3650695 |
430 | V>D | No |
ClinGen ExAC |
|
|
rs757331003 CA3650694 |
430 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3650696 rs750714610 |
432 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3650697 rs756264348 |
434 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA362833351 rs1325642741 |
436 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1204025281 CA362833480 |
440 | N>S | No |
ClinGen gnomAD |
|
|
CA3650698 rs371186294 |
443 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3650701 rs779334143 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs374747742 CA3650704 |
450 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553888880 CA3650703 |
450 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362833629 rs1561941838 |
451 | C>G | No |
ClinGen Ensembl |
|
|
rs1582176501 CA362833640 |
451 | C>Y | No |
ClinGen Ensembl |
|
|
CA362833664 rs1158315484 |
452 | E>V | No |
ClinGen gnomAD |
|
|
rs1400481188 CA565559678 |
454 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs573741286 CA134967887 |
455 | G>D | No |
ClinGen 1000Genomes |
|
|
rs1333964442 CA565559679 |
457 | S>N | No |
ClinGen gnomAD |
|
|
rs1333964442 CA565559680 |
457 | S>T | No |
ClinGen gnomAD |
|
|
rs200486120 CA3650720 |
459 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1613550884 rs1561942519 |
460 | K>T | No |
ClinGen Ensembl |
|
|
rs1358239393 CA565559681 |
462 | G>E | No |
ClinGen gnomAD |
|
|
CA565559683 rs1243351709 |
464 | R>G | No |
ClinGen gnomAD |
|
|
CA565559685 rs1359541331 |
472 | G>V | No |
ClinGen gnomAD |
|
|
rs976947948 CA134967894 |
476 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA565559686 rs1194801051 |
476 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA822715215 rs1194801051 |
476 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs180781685 CA3650722 |
477 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769396105 CA3650723 |
479 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775332267 CA3650724 |
482 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242942387 CA565559688 |
482 | R>H | No |
ClinGen gnomAD |
|
|
rs1242942387 CA565559687 |
482 | R>L | No |
ClinGen gnomAD |
|
|
rs866669812 CA134967917 |
486 | H>Y | No |
ClinGen Ensembl |
|
|
rs1451416115 CA822715239 |
488 | N>S | No |
ClinGen TOPMed |
|
|
CA134967919 rs922953054 |
493 | V>I | No |
ClinGen TOPMed |
|
|
CA565559691 rs1386166320 |
494 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1166275977 CA822715242 |
495 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1166275977 CA565559692 |
495 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs945007677 CA134967931 |
498 | R>K | No |
ClinGen TOPMed |
|
|
CA565559695 rs1331735532 |
503 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA822715256 rs1281324990 |
504 | L>H | No |
ClinGen TOPMed |
|
|
rs1381790829 CA565559696 |
506 | D>G | No |
ClinGen gnomAD |
|
|
rs767398250 CA3650731 |
513 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402435807 CA565559986 |
513 | I>V | No |
ClinGen gnomAD |
|
|
rs773315601 CA3650732 |
517 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA565559990 rs773315601 |
517 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283189820 CA565559995 |
521 | I>V | No |
ClinGen gnomAD |
|
|
rs1324718070 CA822716766 |
522 | K>E | No |
ClinGen TOPMed |
|
|
CA565559996 rs1322094983 |
525 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA565559997 rs1205934602 |
527 | Q>R | No |
ClinGen gnomAD |
|
|
rs760788771 CA3650733 |
545 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA134976383 rs944906194 |
546 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1241352423 CA565560001 |
547 | C>Y | No |
ClinGen gnomAD |
|
|
rs1582189340 CA1613557566 |
549 | S>R | No |
ClinGen Ensembl |
|
|
CA565560005 rs1198868709 |
550 | N>K | No |
ClinGen gnomAD |
|
|
rs1428494832 CA565560007 |
553 | Q>H | No |
ClinGen gnomAD |
|
|
rs1268050690 CA362836159 |
554 | V>L | No |
ClinGen gnomAD |
|
|
rs1418268806 CA362836223 |
555 | S>P | No |
ClinGen gnomAD |
|
|
CA362836285 rs1156728397 |
557 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs752092174 CA3650744 |
557 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1419961328 CA362836321 |
558 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373020156 CA3650746 |
564 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA134977488 rs1029807248 |
566 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1318056162 CA362836647 |
567 | Q>E | No |
ClinGen gnomAD |
|
|
rs1343868573 CA362836911 |
574 | L>V | No |
ClinGen gnomAD |
|
|
rs1309660228 CA362836990 |
577 | P>S | No |
ClinGen gnomAD |
|
|
CA3650749 rs148006516 |
580 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA134977530 rs1055146839 |
581 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1361669856 CA362837077 |
581 | V>L | No |
ClinGen gnomAD |
|
|
CA362837129 rs1222473076 |
582 | I>V | No |
ClinGen gnomAD |
|
|
CA134977544 rs879944837 |
584 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA134977548 rs879350909 |
587 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1252430727 CA362837386 |
592 | I>V | No |
ClinGen gnomAD |
|
|
rs771827154 CA3650751 |
594 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134977560 rs910998746 |
594 | L>V | No |
ClinGen TOPMed |
|
|
rs1561948162 CA362837451 |
595 | K>Q | No |
ClinGen Ensembl |
|
|
CA134977574 rs957025021 |
596 | S>C | No |
ClinGen Ensembl |
|
|
CA362837654 rs1437937014 |
598 | V>L | No |
ClinGen TOPMed |
|
|
CA362837689 rs1318581616 |
599 | Q>R | No |
ClinGen gnomAD |
|
|
rs1404495130 CA362837709 |
600 | C>Y | No |
ClinGen TOPMed |
|
|
CA134978071 rs200075440 |
606 | D>G | No |
ClinGen Ensembl |
|
|
rs1443741126 CA362837890 |
607 | E>Q | No |
ClinGen gnomAD |
|
|
rs1582195995 CA362837920 |
608 | V>A | No |
ClinGen Ensembl |
|
|
CA3650771 rs777474479 |
608 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362837913 rs777474479 |
608 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484597842 CA362837975 |
612 | T>A | No |
ClinGen gnomAD |
|
|
CA3650773 rs72840622 |
615 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3650772 rs746959932 |
615 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs146349701 CA362838099 |
617 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146349701 CA3650775 |
617 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3650774 rs146349701 |
617 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775840048 CA3650778 |
621 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134981946 rs888339061 |
623 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362839679 rs1278767969 |
623 | V>L | No |
ClinGen gnomAD |
|
|
CA362839747 rs1248613401 |
626 | T>A | No |
ClinGen TOPMed |
|
|
rs749535924 CA3650798 |
628 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362839885 rs1270965488 |
630 | A>G | No |
ClinGen gnomAD |
|
|
CA362839967 rs1292619008 |
634 | K>T | No |
ClinGen gnomAD |
|
|
rs774890131 CA3650800 |
636 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762311024 CA3650801 |
638 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362840065 rs762311024 |
638 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362840071 rs1355798410 |
638 | Q>P | No |
ClinGen TOPMed |
|
|
CA3650802 rs150757038 |
642 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3650804 rs41267732 |
648 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764813465 CA3650805 |
649 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA134982003 rs745319699 |
651 | I>F | No |
ClinGen TOPMed |
|
|
rs745319699 CA134982001 |
651 | I>V | No |
ClinGen TOPMed |
|
|
rs758076566 CA3650807 |
656 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3650808 rs763774919 |
656 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3650809 rs751189573 |
657 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA362840612 rs1262932922 |
662 | I>T | No |
ClinGen gnomAD |
|
|
rs766753180 CA3650824 |
662 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650825 rs777090375 |
663 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA134982960 rs369749190 |
664 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1257208362 CA362840632 |
665 | Q>H | No |
ClinGen gnomAD |
|
|
rs762497875 CA3650826 |
667 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761304965 CA134983006 |
668 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761304965 CA3650829 |
668 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3650830 rs767358688 |
675 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs945249568 CA134983013 |
676 | Q>H | No |
ClinGen TOPMed |
|
|
rs1406872961 CA362840718 |
678 | A>T | No |
ClinGen TOPMed |
|
|
CA362840727 rs1179236653 |
679 | D>A | No |
ClinGen TOPMed |
|
|
CA3650832 rs756110008 |
684 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755554115 CA134983064 |
686 | P>L | No |
ClinGen Ensembl |
|
|
CA3650834 rs376929914 |
687 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191558523 CA3650833 |
687 | S>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs368722348 CA3650835 |
695 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374937096 CA134983110 |
696 | V>A | No |
ClinGen ESP |
|
|
CA3650837 rs748411364 |
696 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3650838 rs772132536 |
697 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201868912 CA3650839 |
698 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1561954934 CA362840880 |
700 | M>V | No |
ClinGen Ensembl |
|
|
rs1358377845 CA362840969 |
702 | P>L | No |
ClinGen gnomAD |
|
|
CA3650840 rs113679388 |
702 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770263377 CA3650862 |
705 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362841794 rs1162419222 |
707 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3650863 rs773950850 |
707 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1466211130 CA362841821 |
708 | V>A | No |
ClinGen gnomAD |
|
|
CA134983954 rs748774757 COSM1076386 |
708 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs368525010 CA3650866 |
712 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771558626 CA3650865 |
712 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA362841889 rs1245282773 COSM336250 CA362841890 |
715 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362841895 rs766339921 |
716 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766339921 CA3650868 |
716 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776549689 CA3650869 |
718 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1211710 CA3650872 rs752633222 |
719 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs951441161 CA134984019 |
719 | A>V | No |
ClinGen TOPMed |
|
|
CA3650873 rs758423524 |
720 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758423524 CA3650874 |
720 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362841932 rs1561956343 |
721 | V>M | No |
ClinGen Ensembl |
|
|
rs214585 CA362841990 |
725 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362841993 rs1426006729 |
726 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA362842011 rs780445274 |
727 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3650880 rs780445274 |
727 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362842033 rs1319318846 |
728 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3650881 rs749742450 |
729 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs1373070639 CA362842049 |
730 | L>V | No |
ClinGen gnomAD |
|
|
rs1468140085 CA362842073 |
732 | Q>K | No |
ClinGen TOPMed |
|
|
rs1428424210 CA362842082 |
732 | Q>R | No |
ClinGen TOPMed |
|
|
rs771484236 CA362842117 |
733 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA362842135 rs202229762 |
734 | M>L | No |
ClinGen Ensembl |
|
|
CA3650884 rs372789519 |
734 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA134984072 rs202229762 |
734 | M>V | No |
ClinGen Ensembl |
|
|
CA362842156 rs1434627266 |
735 | A>T | No |
ClinGen TOPMed |
|
|
rs1269738699 CA362842168 |
735 | A>V | No |
ClinGen TOPMed |
|
|
CA3650886 rs200223055 |
736 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650887 rs200223055 |
736 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650885 rs200223055 |
736 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764138600 CA3650892 |
738 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650890 rs201261463 |
738 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751615354 CA362842291 CA3650893 |
741 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757510015 CA3650894 |
742 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3650896 rs750592738 |
744 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3650915 rs766707912 |
745 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs367680448 CA3650917 |
751 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367680448 CA134985941 |
751 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM231767 CA362842813 rs1341112748 |
752 | Y>C | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs570708510 CA3650918 |
754 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA134985960 rs199764955 |
756 | R>Q | No |
ClinGen gnomAD |
|
|
rs756834832 CA3650920 |
756 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780847222 CA3650921 |
759 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650922 rs745574713 |
761 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287329593 CA362842973 |
763 | I>M | No |
ClinGen gnomAD |
|
|
rs769466346 CA3650923 |
765 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1219762444 CA362843041 |
768 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362843064 rs1248834973 |
769 | F>S | No |
ClinGen gnomAD |
|
|
rs1471104439 CA362843106 |
772 | T>A | No |
ClinGen gnomAD |
|
|
rs532587395 CA3650925 |
773 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362843131 rs1441600562 |
774 | G>V | No |
ClinGen gnomAD |
|
|
rs370314511 CA3650929 |
776 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3650930 rs773264009 |
778 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1582223548 CA362843163 |
779 | Y>C | No |
ClinGen Ensembl |
|
|
CA134986015 rs948759937 |
780 | D>E | No |
ClinGen TOPMed |
|
|
rs765200597 CA3650932 |
781 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs559624098 CA3650933 |
782 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650935 rs765633223 |
786 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356193040 CA362843214 |
787 | Q>E | No |
ClinGen gnomAD |
|
|
CA362843213 rs1356193040 |
787 | Q>K | No |
ClinGen gnomAD |
|
|
CA3650938 rs201063293 |
790 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650939 rs749917504 |
791 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs755537752 CA3650940 |
792 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748833012 CA3650942 |
793 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362844172 rs1219680192 |
801 | F>L | No |
ClinGen gnomAD |
|
|
CA362844186 rs747902434 |
803 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650970 rs747902434 |
803 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650971 rs758144119 |
803 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA362844197 rs1485925336 |
805 | V>I | No |
ClinGen gnomAD |
|
|
rs1290131383 CA362844211 |
807 | G>R | No |
ClinGen TOPMed |
|
|
CA3650975 rs778947998 |
813 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3650976 rs746150715 |
817 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582235985 CA362844293 |
819 | I>T | No |
ClinGen Ensembl |
|
|
CA3650978 COSM1545903 rs775814508 |
821 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
No associated diseases with Q8NB78
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleosome | A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| 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. |
8 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. |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| 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 binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| 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. |
| 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA methylation involved in gamete generation | The covalent transfer of a methyl group to C-5 of cytosine that contributes to the establishment of DNA methylation patterns in the gamete. |
| histone H3-K4 demethylation | The modification of histone H3 by the removal of a methyl group from lysine at position 4 of the histone. |
| 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. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of DNA methylation | Any process that modulates the frequency, rate or extent of the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine. |
| regulation of gene expression by genomic imprinting | An epigenetic mechanism of regulation of gene expression in which epigenetic modifications (imprints) are established during gametogenesis. For a given gene to show parentally biased expression, the imprint are established exclusively in one of the two parental genomes, thus generating an asymmetry between the maternal and paternal alleles. |
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 |
| O60341 | KDM1A | Lysine-specific histone demethylase 1A | 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 |
| MATPRGRTKK | KASFDHSPDS | LPLRSSGRQA | KKKATETTDE | DEDGGSEKKY | RKCEKAGCTA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TCPVCFASAS | ERCAKNGYTS | RWYHLSCGEH | FCNECFDHYY | RSHKDGYDKY | TTWKKIWTSN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GKTEPSPKAF | MADQQLPYWV | QCTKPECRKW | RQLTKEIQLT | PQIAKTYRCG | MKPNTAIKPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSDHCSLPED | LRVLEVSNHW | WYSMLILPPL | LKDSVAAPLL | SAYYPDCVGM | SPSCTSTNRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AATGNASPGK | LEHSKAALSV | HVPGMNRYFQ | PFYQPNECGK | ALCVRPDVME | LDELYEFPEY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRDPTMYLAL | RNLILALWYT | NCKEALTPQK | CIPHIIVRGL | VRIRCVQEVE | RILYFMTRKG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LINTGVLSVG | ADQYLLPKDY | HNKSVIIIGA | GPAGLAAARQ | LHNFGIKVTV | LEAKDRIGGR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VWDDKSFKGV | TVGRGAQIVN | GCINNPVALM | CEQLGISMHK | FGERCDLIQE | GGRITDPTID |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KRMDFHFNAL | LDVVSEWRKD | KTQLQDVPLG | EKIEEIYKAF | IKESGIQFSE | LEGQVLQFHL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SNLEYACGSN | LHQVSARSWD | HNEFFAQFAG | DHTLLTPGYS | VIIEKLAEGL | DIQLKSPVQC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IDYSGDEVQV | TTTDGTGYSA | QKVLVTVPLA | LLQKGAIQFN | PPLSEKKMKA | INSLGAGIIE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KIALQFPYRF | WDSKVQGADF | FGHVPPSASK | RGLFAVFYDM | DPQKKHSVLM | SVIAGEAVAS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VRTLDDKQVL | QQCMATLREL | FKEQEVPDPT | KYFVTRWSTD | PWIQMAYSFV | KTGGSGEAYD |
| 790 | 800 | 810 | 820 | ||
| IIAEDIQGTV | FFAGEATNRH | FPQTVTGAYL | SGVREASKIA | AF |