Q9BY66
Gene name |
KDM5D (HY, HYA, JARID1D, KIAA0234, SMCY) |
Protein name |
Lysine-specific demethylase 5D |
Names |
Histocompatibility Y antigen, H-Y, Histone demethylase JARID1D, Jumonji/ARID domain-containing protein 1D, Protein SmcY, [histone H3]-trimethyl-L-lysine(4) demethylase 5D |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8284 |
EC number |
1.14.11.67: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9BY66
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2E6R | NMR | - | A | 306-384 | PDB |
| 2YQE | NMR | - | A | 79-171 | PDB |
| AF-Q9BY66-F1 | Predicted | AlphaFoldDB |
344 variants for Q9BY66
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs199813705 CA10575102 |
3 | P>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs199813705 CA10575101 |
3 | P>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA337441312 rs946898687 |
4 | G>A | No |
ClinGen gnomAD |
|
|
CA414847551 rs946898687 |
4 | G>E | No |
ClinGen gnomAD |
|
|
CA10575100 rs760637210 |
4 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569369743 CA414847382 |
15 | P>L | No |
ClinGen Ensembl |
|
|
CA10575096 rs774041797 |
17 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA10575095 rs768207947 |
25 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA414847157 rs1405878724 |
31 | I>V | No |
ClinGen gnomAD |
|
|
rs1367436464 CA414847092 |
35 | R>M | No |
ClinGen gnomAD |
|
|
CA10575094 rs749599093 |
39 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780597809 CA414847022 |
40 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs780597809 CA10575093 |
40 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10575092 rs756644777 |
47 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365840574 CA414846722 |
58 | V>A | No |
ClinGen gnomAD |
|
|
rs1274321260 CA414846718 |
59 | E>Q | No |
ClinGen gnomAD |
|
|
CA10575085 rs753589349 |
62 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs2521574 CA337441284 |
64 | R>K | No |
ClinGen Ensembl |
|
|
CA337441283 rs371502336 |
68 | R>C | No |
ClinGen ESP gnomAD |
|
|
rs1034100630 CA337441282 |
69 | V>I | No |
ClinGen gnomAD |
|
|
CA337441256 rs267606535 |
88 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 91 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325695403 CA414846058 |
92 | F>L | No |
ClinGen gnomAD |
|
|
CA414845919 rs1569368909 |
102 | I>T | No |
ClinGen Ensembl |
|
|
CA10575071 rs781713460 |
104 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777742522 CA10575068 |
115 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762596355 CA10575058 |
118 | I>F | No |
ClinGen ExAC |
|
|
CA414845574 rs1603546075 |
124 | G>A | No |
ClinGen Ensembl |
|
|
CA414845515 rs1603546074 |
128 | I>M | No |
ClinGen Ensembl |
|
|
rs1378103890 CA414845471 |
131 | D>G | No |
ClinGen gnomAD |
|
|
CA10575057 rs769631336 |
132 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs769631336 CA10575056 |
132 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA414845447 rs1454244319 |
133 | R>Q | No |
ClinGen gnomAD |
|
|
rs776861979 CA10575054 |
143 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA414845295 rs1345753651 |
144 | P>L | No |
ClinGen Ensembl |
|
|
rs771425528 CA10575053 |
149 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10575052 rs747492393 |
151 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1422595247 CA414845096 |
159 | R>C | No |
ClinGen gnomAD |
|
|
CA414845090 rs1413436679 |
159 | R>L | No |
ClinGen gnomAD |
|
|
CA10575049 rs748291282 |
160 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10575047 rs755199132 |
173 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750193514 CA10575046 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA414844817 rs1291291671 |
176 | C>G | No |
ClinGen gnomAD |
|
|
CA414844756 rs1456833884 |
180 | P>Q | No |
ClinGen gnomAD |
|
|
rs764912539 CA10575038 |
183 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1164578875 CA414844712 |
183 | N>S | No |
ClinGen gnomAD |
|
|
CA414844544 rs1419904980 |
195 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337441214 rs867740189 |
203 | P>H | No |
ClinGen Ensembl |
|
|
rs771177727 CA10575035 |
208 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10575034 rs369689683 |
211 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868219886 CA337441213 |
212 | R>L | No |
ClinGen Ensembl |
|
|
rs1224670916 CA414844278 |
212 | R>W | No |
ClinGen gnomAD |
|
|
rs1358953604 CA414844017 |
220 | P>R | No |
ClinGen gnomAD |
|
|
CA414843972 rs1454492868 |
223 | T>A | No |
ClinGen gnomAD |
|
|
CA414843974 rs1454492868 |
223 | T>P | No |
ClinGen gnomAD |
|
|
rs1365816310 CA414843832 |
230 | H>P | No |
ClinGen gnomAD |
|
|
rs1432628088 CA414843727 |
235 | K>N | No |
ClinGen gnomAD |
|
|
rs367811199 CA10575024 |
238 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766143895 CA10575023 |
239 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414843637 rs1487269358 |
242 | G>R | No |
ClinGen gnomAD |
|
|
rs777798643 CA10575022 |
249 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA337441134 rs374506583 |
253 | K>E | No |
ClinGen ESP |
|
|
rs1352363980 CA414843421 |
254 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337441132 rs973739517 |
256 | D>E | No |
ClinGen Ensembl |
|
|
CA10575020 rs752211172 |
256 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA10575019 rs764857307 |
259 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10575009 rs750429701 |
265 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1461547786 | 268 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10575005 rs746730690 |
270 | T>M | No |
ClinGen ExAC |
|
|
CA10575006 rs3212285 |
270 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1228823823 CA414843000 |
274 | E>V | No |
ClinGen gnomAD |
|
|
rs758357463 CA10575003 |
278 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA10575002 rs748073274 |
278 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs372522294 CA10575001 |
284 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10574999 rs753444324 |
289 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs754442283 CA10575000 |
289 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755822885 CA10574998 |
296 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755822885 CA10574997 |
296 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1603546016 CA414842590 |
299 | T>N | No |
ClinGen Ensembl |
|
|
rs1245759378 CA414842211 |
315 | Y>C | No |
ClinGen gnomAD |
|
|
CA10574983 rs775246871 |
315 | Y>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs777038395 CA10574982 |
321 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10574981 rs771957697 |
341 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778700335 CA10574979 |
347 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10574978 rs768650836 |
364 | A>V | No |
ClinGen ExAC |
|
|
rs764445193 CA10574970 |
367 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA337440978 rs899613472 |
377 | Q>E | No |
ClinGen gnomAD |
|
|
CA10574969 rs763543567 |
381 | E>D | No |
ClinGen ExAC |
|
|
CA10574966 rs759727009 |
393 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs776987482 CA10574964 |
396 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs771336208 CA10574963 |
397 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761640649 CA10574962 |
400 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1490676505 CA414840490 |
411 | V>A | No |
ClinGen gnomAD |
|
|
rs61750268 CA337440959 |
411 | V>L | No |
ClinGen Ensembl |
|
|
rs1046692785 CA337440957 |
413 | K>N | No |
ClinGen Ensembl |
|
|
CA414840376 rs1569366470 |
418 | L>Q | No |
ClinGen Ensembl |
|
|
rs1603545972 CA414840241 |
425 | D>E | No |
ClinGen Ensembl |
|
|
CA337440950 rs2032618 CA337440952 |
426 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs2032618 CA10574951 |
426 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA337440948 rs929564908 |
429 | E>D | No |
ClinGen Ensembl |
|
|
rs753213379 CA10574950 |
434 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs928869795 CA337440946 |
446 | S>N | No |
ClinGen Ensembl |
|
|
rs982052810 CA337440944 |
447 | N>S | No |
ClinGen Ensembl |
|
|
rs1262574616 CA414852185 |
460 | A>V | No |
ClinGen gnomAD |
|
|
rs775488459 CA10574939 |
462 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10574938 rs769740357 |
464 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA10574937 rs745319454 |
469 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1213936295 CA414852079 |
470 | P>A | No |
ClinGen gnomAD |
|
|
CA10574935 rs770519026 |
481 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs746649132 CA10574934 |
482 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10574933 rs777326175 |
490 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA414851693 rs1168882283 |
504 | H>R | No |
ClinGen gnomAD |
|
|
rs866860857 CA337440495 |
506 | E>D | No |
ClinGen Ensembl |
|
|
rs1188716288 CA414851582 |
513 | I>T | No |
ClinGen gnomAD |
|
|
CA10574932 rs758782377 |
513 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748518487 CA10574931 |
515 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10574922 rs775155250 |
519 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759494962 CA10574920 |
529 | S>P | No |
ClinGen ExAC |
|
| TCGA novel | 534 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337440481 rs1042221646 |
537 | E>D | No |
ClinGen gnomAD |
|
|
CA10574919 rs776595397 |
541 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770392415 CA10574918 |
548 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA414851020 rs1248500921 |
561 | M>V | No |
ClinGen gnomAD |
|
|
CA10574915 rs771635442 |
569 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756207753 CA10574908 |
589 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10574907 rs775977354 |
597 | Q>FC* | No |
ClinGen ExAC gnomAD |
|
|
CA414850307 rs1197109051 |
617 | R>S | No |
ClinGen gnomAD |
|
|
CA10574899 rs753768084 |
618 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1269319594 CA414850271 |
620 | I>V | No |
ClinGen gnomAD |
|
|
rs766359320 CA10574898 |
625 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs766359320 CA337440299 |
625 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10574897 rs760173648 |
627 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10574896 rs772599560 |
629 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA414850124 rs1318134868 |
633 | S>F | No |
ClinGen gnomAD |
|
|
rs1603545791 CA414850090 |
636 | E>* | No |
ClinGen Ensembl |
|
|
CA414850031 rs1222215197 |
641 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 646 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774188432 CA10574892 |
647 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1383291648 CA414849916 |
651 | N>D | No |
ClinGen gnomAD |
|
|
CA10574890 rs749730855 |
651 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780651186 CA10574889 |
653 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10574888 rs770210674 |
656 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1390920626 CA414849870 |
656 | V>L | No |
ClinGen gnomAD |
|
|
rs745923572 CA10574887 |
657 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781158387 CA10574886 |
661 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1201540443 CA414849785 |
662 | I>V | No |
ClinGen gnomAD |
|
|
rs1426466778 CA414849698 |
668 | R>Q | No |
ClinGen gnomAD |
|
|
CA10574885 rs757411182 |
669 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10574877 rs377092542 |
679 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1469317416 CA414849531 |
681 | E>Q | No |
ClinGen gnomAD |
|
|
rs774135485 CA10574876 |
683 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA414849492 rs1460408001 |
684 | R>Q | No |
ClinGen gnomAD |
|
|
rs768437804 CA10574874 |
690 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10574873 rs763346143 |
705 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1182622590 CA414849201 |
710 | A>T | No |
ClinGen gnomAD |
|
|
rs776031237 CA10574872 |
713 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1264465071 CA414849124 |
716 | D>G | No |
ClinGen gnomAD |
|
|
rs938158701 CA337440268 COSM3391915 |
725 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs746341780 CA10574870 |
732 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs781740926 CA10574869 |
732 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA414848869 rs1569363348 |
738 | R>Q | No |
ClinGen Ensembl |
|
|
rs1395746660 CA414848825 |
740 | R>Q | No |
ClinGen gnomAD |
|
|
rs1383172771 CA414848651 |
756 | R>Q | No |
ClinGen gnomAD |
|
|
rs544669203 CA10574863 |
762 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544669203 CA10574862 |
762 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414848555 rs1238692765 |
765 | N>D | No |
ClinGen gnomAD |
|
|
rs755984781 CA10574861 |
768 | R>Q | No |
ClinGen ExAC |
|
|
CA414848401 rs1250382118 |
777 | R>H | No |
ClinGen gnomAD |
|
|
rs1603545779 CA414848267 |
787 | L>M | No |
ClinGen Ensembl |
|
|
CA10574849 rs771480596 |
792 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10574848 rs747021428 |
795 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs772231807 CA10574845 |
802 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA10574844 rs748348134 |
804 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs778452697 CA10574842 |
812 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414847928 rs1222276999 |
818 | Q>* | No |
ClinGen gnomAD |
|
|
CA10574840 rs780925672 |
828 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10574835 rs752283213 |
835 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764993727 CA10574834 |
841 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1315713234 CA414847717 |
848 | G>S | No |
ClinGen gnomAD |
|
|
CA10574833 rs759759371 |
848 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1603545733 CA414847674 |
854 | M>I | No |
ClinGen Ensembl |
|
|
rs766830155 CA10574831 |
854 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs761191128 CA10574830 |
856 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA414847654 rs1427862909 |
857 | I>T | No |
ClinGen gnomAD |
|
|
rs1478528734 CA414847625 |
861 | K>N | No |
ClinGen gnomAD |
|
|
rs1199364235 CA414847627 |
861 | K>R | No |
ClinGen gnomAD |
|
|
rs1190780635 CA414847544 |
868 | E>Q | No |
ClinGen gnomAD |
|
|
rs770902573 CA10574822 |
869 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1242611146 CA414847460 |
875 | R>C | No |
ClinGen gnomAD |
|
|
rs777929353 CA10574820 |
878 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs777929353 CA10574821 |
878 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA337440017 rs1031595391 |
879 | A>V | No |
ClinGen Ensembl |
|
|
CA414847348 rs1313936262 |
884 | S>R | No |
ClinGen gnomAD |
|
|
rs1213816138 CA414847291 |
889 | R>Q | No |
ClinGen gnomAD |
|
|
rs757964688 CA10574819 |
889 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10574818 rs752261194 |
890 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1299294064 CA414847228 |
894 | R>S | No |
ClinGen gnomAD |
|
|
CA10574816 rs754688597 |
902 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1414726919 CA414847016 |
910 | Q>H | No |
ClinGen Ensembl |
|
|
CA10574815 rs373422020 |
910 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10574814 rs766705675 |
911 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA414846933 rs1361452542 |
916 | Q>R | No |
ClinGen gnomAD |
|
|
rs1409704100 CA414846832 |
925 | L>P | No |
ClinGen gnomAD |
|
|
CA10574811 rs768026210 |
926 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs866052642 CA337440005 |
926 | A>V | No |
ClinGen Ensembl |
|
|
CA10574810 rs761733755 |
932 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1443079914 CA414846704 |
937 | M>L | No |
ClinGen gnomAD |
|
|
rs774523231 CA10574809 |
948 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774523231 CA414846571 |
948 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA337440001 rs765530292 |
950 | S>G | No |
ClinGen 1000Genomes |
|
|
CA10574808 rs768714690 |
957 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 962 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1683052 CA10574804 rs746855060 |
969 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA414846368 rs1276596263 |
969 | R>H | No |
ClinGen gnomAD |
|
|
CA10574803 rs777792467 |
972 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1358347504 CA414846307 |
975 | H>R | No |
ClinGen gnomAD |
|
|
CA10574797 rs779748723 |
984 | H>L | No |
ClinGen ExAC |
|
|
CA10574796 rs779748723 |
984 | H>P | No |
ClinGen ExAC |
|
|
rs767973344 CA10574793 |
986 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10574792 rs762407272 |
994 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs752058053 CA10574791 |
1025 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10574782 rs748094399 |
1032 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10574781 rs774193762 |
1036 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA337439914 rs868449081 |
1039 | E>G | No |
ClinGen Ensembl |
|
|
rs768207252 CA10574780 |
1046 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1484720528 CA414845225 |
1057 | Q>E | No |
ClinGen gnomAD |
|
|
rs1259604290 CA414845136 |
1064 | T>A | No |
ClinGen gnomAD |
|
|
CA10574779 rs748855039 |
1072 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779615383 CA10574778 |
1078 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA414844861 rs1270524064 |
1084 | T>A | No |
ClinGen gnomAD |
|
|
CA10574777 rs755795687 |
1086 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414844755 rs1603545710 |
1091 | P>Q | No |
ClinGen Ensembl |
|
|
CA414844705 rs1260554707 |
1095 | A>T | No |
ClinGen gnomAD |
|
|
rs35247789 CA10574767 |
1099 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10574765 rs761578749 |
1100 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs774331690 CA10574764 |
1102 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA337439886 rs202137598 |
1104 | R>Q | No |
ClinGen Ensembl |
|
|
COSM1737443 rs768481960 CA10574763 |
1109 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775005055 CA10574761 |
1114 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs769345125 CA10574760 |
1115 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA337439881 rs963453320 |
1121 | G>R | No |
ClinGen gnomAD |
|
|
CA10574758 rs764239225 |
1129 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1258924572 CA414844261 |
1131 | G>S | No |
ClinGen Ensembl |
|
|
rs1202723144 CA414844197 |
1134 | I>T | No |
ClinGen gnomAD |
|
|
rs754107673 CA10574750 |
1137 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA414844153 rs1229398035 |
1138 | K>N | No |
ClinGen gnomAD |
|
|
CA414844088 rs1312968356 |
1146 | E>A | No |
ClinGen gnomAD |
|
|
CA10574749 rs766567095 |
1147 | G>D | No |
ClinGen ExAC |
|
|
CA414844077 rs1244103713 |
1148 | I>V | No |
ClinGen gnomAD |
|
|
CA10574748 rs761610918 |
1152 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1336027684 CA414844046 |
1153 | R>C | No |
ClinGen gnomAD |
|
|
rs1448317143 CA414844042 |
1153 | R>L | No |
ClinGen gnomAD |
|
|
rs1369711588 CA414844003 |
1157 | A>G | No |
ClinGen gnomAD |
|
|
rs1431221988 CA414843984 |
1159 | P>S | No |
ClinGen gnomAD |
|
|
rs1363287921 CA414843954 |
1161 | P>L | No |
ClinGen gnomAD |
|
|
CA414843953 rs1603545701 |
1162 | L>M | No |
ClinGen Ensembl |
|
|
rs764045028 CA10574746 |
1162 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414843881 rs1472808224 |
1169 | S>P | No |
ClinGen gnomAD |
|
|
rs1603545697 CA414843836 |
1173 | S>C | No |
ClinGen Ensembl |
|
|
CA414843823 rs1190219102 |
1174 | I>M | No |
ClinGen gnomAD |
|
|
rs1471932443 CA414843762 |
1180 | V>L | No |
ClinGen gnomAD |
|
|
rs1251521594 CA414843736 |
1183 | G>R | No |
ClinGen gnomAD |
|
|
CA337439876 rs1050807 VAR_032991 |
1186 | V>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1035593148 CA337439874 |
1193 | Q>L | No |
ClinGen Ensembl |
|
|
rs565630460 CA10574742 |
1217 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1357058616 CA414843248 |
1226 | D>N | No |
ClinGen gnomAD |
|
|
CA10574739 rs770490752 |
1236 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10574738 rs373978184 |
1238 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778017625 CA10574737 |
1245 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA337439864 rs866336746 |
1256 | P>S | No |
ClinGen Ensembl |
|
|
CA10574734 rs779628367 |
1257 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA414842950 rs779628367 |
1257 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA414842941 rs1456079779 |
1258 | R>Q | No |
ClinGen gnomAD |
|
|
CA414842942 rs1276230357 |
1258 | R>W | No |
ClinGen Ensembl |
|
|
CA414842751 rs1411817412 |
1275 | W>* | No |
ClinGen gnomAD |
|
|
CA10574733 rs755094195 |
1278 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414842708 rs1473741747 |
1278 | R>H | No |
ClinGen gnomAD |
|
|
CA337439860 rs747615980 |
1282 | A>T | No |
ClinGen 1000Genomes |
|
|
CA414842664 rs1245347700 |
1282 | A>V | No |
ClinGen gnomAD |
|
|
CA337439858 rs1050808 |
1285 | S>F | No |
ClinGen Ensembl |
|
|
rs753877149 CA10574732 |
1286 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780282455 CA10574731 |
1289 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA414842566 rs1203425230 |
1293 | R>G | No |
ClinGen gnomAD |
|
|
rs367572296 CA10574730 |
1293 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750708901 CA10574729 |
1299 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA414842497 rs1230157091 |
1299 | R>H | No |
ClinGen gnomAD |
|
|
CA414842486 rs763763717 |
1300 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10574728 rs763763717 |
1300 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1459345858 CA414842327 |
1315 | T>I | No |
ClinGen gnomAD |
|
|
rs1423488604 CA414842309 |
1318 | T>I | No |
ClinGen gnomAD |
|
|
rs776040782 CA10574722 |
1323 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414842235 rs1248622510 |
1326 | G>D | No |
ClinGen gnomAD |
|
|
CA10574710 rs781449106 |
1341 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA414841999 rs1166945534 |
1344 | V>M | No |
ClinGen gnomAD |
|
|
rs1449158190 CA414841961 |
1347 | P>L | No |
ClinGen gnomAD |
|
|
CA414841931 rs1390845365 |
1350 | M>V | No |
ClinGen gnomAD |
|
|
rs1190646379 CA414841909 |
1351 | A>V | No |
ClinGen gnomAD |
|
|
rs370740347 CA10574704 |
1359 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10574705 rs753866467 |
1359 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414841646 rs1393759714 |
1374 | E>K | No |
ClinGen Ensembl |
|
|
rs750481044 CA10574702 |
1382 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1422069481 CA414841559 |
1383 | L>M | No |
ClinGen gnomAD |
|
|
rs767292584 CA10574701 |
1387 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762202481 CA10574700 |
1388 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA414841492 rs1182368335 |
1388 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1394 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769191548 CA10574698 |
1403 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10574696 rs776130195 |
1409 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs745970329 CA10574694 |
1413 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs377408982 COSM1470013 CA337439815 |
1419 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA337439809 rs369953595 |
1430 | Q>H | No |
ClinGen Ensembl |
|
|
CA10574680 rs369468904 |
1433 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10574679 rs763431050 |
1433 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10574678 rs201122015 |
1436 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10574677 rs770335987 |
1437 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414840904 rs1266713139 |
1437 | R>W | No |
ClinGen gnomAD |
|
|
CA10574676 COSM1470012 rs745892280 |
1442 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10574675 rs776718151 |
1444 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10574674 rs771050756 |
1445 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414840831 rs1367216953 |
1445 | R>W | No |
ClinGen gnomAD |
|
|
rs1386551959 CA414840748 |
1452 | R>K | No |
ClinGen gnomAD |
|
|
rs1158331588 CA414840729 |
1453 | N>K | No |
ClinGen gnomAD |
|
|
CA10574672 rs778039265 |
1454 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1413878334 CA414840650 |
1460 | Q>R | No |
ClinGen gnomAD |
|
|
rs1603545676 CA414840628 |
1462 | L>F | No |
ClinGen Ensembl |
|
|
CA10574671 rs374766772 |
1464 | S>* | No |
ClinGen ESP ExAC |
|
|
CA337439803 rs974845953 |
1468 | R>W | No |
ClinGen Ensembl |
|
|
rs756107992 CA10574668 |
1478 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs35681523 CA10574667 |
1478 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10574666 rs767104385 |
1479 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767405452 CA10574665 |
1482 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751241980 CA337439801 |
1488 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10574663 rs763818200 |
1489 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763157175 CA10574662 |
1489 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA337439798 rs11549043 |
1499 | D>Y | No |
ClinGen Ensembl |
|
|
CA414840197 rs1311997092 |
1500 | H>R | No |
ClinGen gnomAD |
|
|
rs753133666 CA10574661 |
1508 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10574659 rs760018135 |
1523 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1387001796 CA414839829 |
1531 | L>F | No |
ClinGen gnomAD |
|
|
CA337439794 rs369802892 |
1533 | Y>H | No |
ClinGen ESP |
|
|
rs776437349 CA10574658 |
1538 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q9BY66
10 regional properties for Q9BY66
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, PHD-type | 731 - 789 | IPR001965-1 |
| domain | Zinc finger, PHD-type | 851 - 907 | IPR001965-2 |
| domain | Tudor domain | 917 - 974 | IPR002999-1 |
| domain | Tudor domain | 975 - 1031 | IPR002999-2 |
| domain | JmjC domain | 143 - 309 | IPR003347 |
| domain | JmjN domain | 14 - 57 | IPR003349 |
| domain | Extended PHD (ePHD) domain | 794 - 907 | IPR034732 |
| domain | Lysine-specific demethylase 4-like, Tudor domain | 922 - 956 | IPR040477-1 |
| domain | Lysine-specific demethylase 4-like, Tudor domain | 980 - 1014 | IPR040477-2 |
| domain | Lysine-specific demethylase 4B, first Tudor domain | 919 - 972 | IPR047483 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.11.67 | With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| histone demethylase activity | Catalysis of the removal of a methyl group from a histone. |
| 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-tri/di/monomethyl-lysine-4 demethylase activity | Catalysis of the removal of a methyl group from a tri, a di or a monomethyl-lysine residue at position 4 of the histone H3 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate. |
| metal ion binding | Binding to a metal ion. |
| nuclear androgen receptor binding | Binding to a nuclear androgen receptor. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| histone H3-K4 demethylation | The modification of histone H3 by the removal of a methyl group from lysine at position 4 of the histone. |
| regulation of androgen receptor signaling pathway | Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. |
| T cell antigen processing and presentation | The process in which a T cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPGCDEFLP | PPECPVFEPS | WAEFQDPLGY | IAKIRPIAEK | SGICKIRPPA | DWQPPFAVEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DNFRFTPRVQ | RLNELEAQTR | VKLNYLDQIA | KFWEIQGSSL | KIPNVERKIL | DLYSLSKIVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEGGYEAICK | DRRWARVAQR | LHYPPGKNIG | SLLRSHYERI | IYPYEMFQSG | ANHVQCNTHP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FDNEVKDKEY | KPHSIPLRQS | VQPSKFSSYS | RRAKRLQPDP | EPTEEDIEKH | PELKKLQIYG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGPKMMGLGL | MAKDKDKTVH | KKVTCPPTVT | VKDEQSGGGN | VSSTLLKQHL | SLEPCTKTTM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QLRKNHSSAQ | FIDSYICQVC | SRGDEDDKLL | FCDGCDDNYH | IFCLLPPLPE | IPRGIWRCPK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CILAECKQPP | EAFGFEQATQ | EYSLQSFGEM | ADSFKSDYFN | MPVHMVPTEL | VEKEFWRLVS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SIEEDVTVEY | GADIHSKEFG | SGFPVSNSKQ | NLSPEEKEYA | TSGWNLNVMP | VLDQSVLCHI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NADISGMKVP | WLYVGMVFSA | FCWHIEDHWS | YSINYLHWGE | PKTWYGVPSL | AAEHLEEVMK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MLTPELFDSQ | PDLLHQLVTL | MNPNTLMSHG | VPVVRTNQCA | GEFVITFPRA | YHSGFNQGYN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FAEAVNFCTA | DWLPAGRQCI | EHYRRLRRYC | VFSHEELICK | MAAFPETLDL | NLAVAVHKEM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FIMVQEERRL | RKALLEKGVT | EAEREAFELL | PDDERQCIKC | KTTCFLSALA | CYDCPDGLVC |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LSHINDLCKC | SSSRQYLRYR | YTLDELPTML | HKLKIRAESF | DTWANKVRVA | LEVEDGRKRS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FEELRALESE | ARERRFPNSE | LLQRLKNCLS | EVEACIAQVL | GLVSGQVARM | DTPQLTLTEL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RVLLEQMGSL | PCAMHQIGDV | KDVLEQVEAY | QAEAREALAT | LPSSPGLLRS | LLERGQQLGV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EVPEAHQLQQ | QVEQAQWLDE | VKQALAPSAH | RGSLVIMQGL | LVMGAKIASS | PSVDKARAEL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QELLTIAERW | EEKAHFCLEA | RQKHPPATLE | AIIRETENIP | VHLPNIQALK | EALTKAQAWI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ADVDEIQNGD | HYPCLDDLEG | LVAVGRDLPV | GLEELRQLEL | QVLTAHSWRE | KASKTFLKKN |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SCYTLLEVLC | PCADAGSDST | KRSRWMEKAL | GLYQCDTELL | GLSAQDLRDP | GSVIVAFKEG |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EQKEKEGILQ | LRRTNSAKPS | PLAPSLMASS | PTSICVCGQV | PAGVGVLQCD | LCQDWFHGQC |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| VSVPHLLTSP | KPSLTSSPLL | AWWEWDTKFL | CPLCMRSRRP | RLETILALLV | ALQRLPVRLP |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| EGEALQCLTE | RAIGWQDRAR | KALASEDVTA | LLRQLAELRQ | QLQAKPRPEE | ASVYTSATAC |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| DPIREGSGNN | ISKVQGLLEN | GDSVTSPENM | APGKGSDLEL | LSSLLPQLTG | PVLELPEAIR |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| APLEELMMEG | DLLEVTLDEN | HSIWQLLQAG | QPPDLDRIRT | LLELEKFEHQ | GSRTRSRALE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| RRRRRQKVDQ | GRNVENLVQQ | ELQSKRARSS | GIMSQVGREE | EHYQEKADRE | NMFLTPSTDH |
| 1510 | 1520 | 1530 | |||
| SPFLKGNQNS | LQHKDSGSSA | ACPSLMPLLQ | LSYSDEQQL |