AiPD: Autoinhibited Protein Database

Q92613

Gene name	JADE3 (KIAA0215, PHF16)
Protein name	Protein Jade-3
Names	Jade family PHD finger protein 3, PHD finger protein 16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9767
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

573-644 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

573-644 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q92613

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q92613-F1	Predicted				AlphaFoldDB

357 variants for Q92613

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1556354121 CA413038490	4	H>R		No	ClinGen gnomAD
rs1196133636 CA413038493	5	R>G		No	ClinGen TOPMed
rs782758123 CA10394319	7	V>I		No	ClinGen ExAC gnomAD
CA413038512 rs1556354133	8	S>G		No	ClinGen gnomAD
rs782420956 CA10394335	21	F>S		No	ClinGen ExAC TOPMed gnomAD
CA10394336 rs781990457	23	S>F		No	ClinGen ExAC gnomAD
CA413038646 rs1225303317	25	S>L		No	ClinGen TOPMed
rs1556354361 CA413038672	29	I>V		No	ClinGen gnomAD
CA329698031 rs1004983243	31	S>P		No	ClinGen Ensembl
CA10394337 rs192950306	32	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA329698032 rs782296045	32	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA413038703 rs1556354382	33	I>M		No	ClinGen gnomAD
rs1602396194 CA413038713	35	N>S		No	ClinGen Ensembl
CA10394338 rs782336705	40	P>H		No	ClinGen ExAC
rs1355562695 CA413039385	45	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA413039383 rs1556357906	45	R>W		No	ClinGen gnomAD
rs1170380307 CA413039487	54	L>I		No	ClinGen TOPMed gnomAD
CA413039526 rs1556357917	57	S>F		No	ClinGen gnomAD
CA10394348 rs781807937	59	H>R		No	ClinGen ExAC gnomAD
CA413039549 rs1556357924	59	H>Y		No	ClinGen gnomAD
rs782544784 CA10394349	60	I>V		No	ClinGen ExAC gnomAD
rs1408563623 CA413039591	63	D>N		No	ClinGen TOPMed
CA413039607 rs1556357940	64	S>G		No	ClinGen gnomAD
CA413039626 rs1556357944	65	Y>C		No	ClinGen gnomAD
rs1556357949 CA413039679	69	A>V		No	ClinGen gnomAD
rs782534239 CA10394352	80	V>A		No	ClinGen ExAC
rs782589215 CA10394353	81	Q>E		No	ClinGen ExAC
rs782221178 CA10394354	81	Q>L		No	ClinGen ExAC
rs782221178 CA10394355	81	Q>R		No	ClinGen ExAC
CA10394358 rs782422246	82	V>A		No	ClinGen ExAC gnomAD
CA10394356 rs781929699 CA10394357	82	V>L		No	ClinGen ExAC gnomAD
CA10394360 rs782123950	87	D>E		No	ClinGen ExAC gnomAD
rs782765097 CA10394361	88	T>N		No	ClinGen ExAC gnomAD
rs781920545 CA10394362	89	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1556357988 CA413039956	94	L>F		No	ClinGen gnomAD
rs1556365141 CA413041691	97	I>V		No	ClinGen gnomAD
CA329699989 rs144788692	99	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs782389176 CA10394375	101	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10394376 rs781975611	104	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10394378 rs782322179	107	I>M		No	ClinGen ExAC gnomAD
rs782181381 CA10394377	107	I>V		No	ClinGen ExAC TOPMed gnomAD
CA413041840 rs1173378692	108	R>Q		No	ClinGen TOPMed
CA10394379 rs202130393	109	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372578744 CA10394380	110	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1556365174 CA413041857	110	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA413041890 rs1185177152	112	Y>C		No	ClinGen TOPMed
CA413041906 rs1556365181	113	I>T		No	ClinGen gnomAD
CA10394382 rs782520405	117	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA329699990 rs377097099	125	Y>F		No	ClinGen ESP TOPMed gnomAD
rs782741315 CA10394384	127	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781785134 CA10394385	129	M>L		No	ClinGen ExAC gnomAD
rs200132654 CA329699991	133	A>V		No	ClinGen Ensembl
TCGA novel	136	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782105698 CA329699992	137	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10394386 rs782059228	137	R>H		No	ClinGen ExAC gnomAD
CA413042250 rs1556365205	138	Y>C		No	ClinGen gnomAD
CA413042316 rs1556365212	142	D>E		No	ClinGen gnomAD
CA10394388 rs781901713	143	M>T		No	ClinGen ExAC gnomAD
rs145705934 CA10394387	143	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA413042342 rs1219113083	144	D>G		No	ClinGen TOPMed
rs1556365234 CA413042352	145	I>V		No	ClinGen gnomAD
CA413042460 rs1556365240	152	N>S		No	ClinGen gnomAD
TCGA novel	154	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782504534 CA10394389	156	A>S		No	ClinGen ExAC gnomAD
rs782504534 CA10394390	156	A>T		No	ClinGen ExAC gnomAD
rs1170936763 CA413042888	175	L>V		No	ClinGen TOPMed
rs782319021 CA10394404	177	R>C		No	ClinGen ExAC gnomAD
CA329700137 rs1006493631	177	R>H		No	ClinGen TOPMed gnomAD
CA413042936 rs1556365899	179	C>S		No	ClinGen gnomAD
rs1556365903 CA413042959	180	H>R		No	ClinGen gnomAD
CA413042991 rs1556365906	182	N>S		No	ClinGen gnomAD
CA10394405 rs782011135	184	N>I		No	ClinGen ExAC TOPMed gnomAD
CA10394407 rs782777302	192	G>W		No	ClinGen ExAC gnomAD
CA413043175 rs1556365917	196	E>Q		No	ClinGen gnomAD
rs782703129 CA10394410	199	E>A		No	ClinGen ExAC gnomAD
rs781813724 CA10394411	207	R>G		No	ClinGen ExAC gnomAD
rs782259335 CA10394412	207	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	208	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	213	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413043456 rs1556365926	216	D>Y		No	ClinGen gnomAD
CA10394414 rs782675690	220	C>R		No	ClinGen ExAC
CA10394416 rs782519858	220	C>W		No	ClinGen ExAC
CA10394415 rs781860874	220	C>Y		No	ClinGen ExAC
CA10394417 rs782380164	225	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10394428 rs148832173	236	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	241	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10394430 rs782124338	245	R>H		No	ClinGen ExAC gnomAD
rs1299325852 CA413044119	246	S>C		No	ClinGen TOPMed
rs781824585 CA10394432	251	I>T		No	ClinGen ExAC gnomAD
rs782502784 CA10394433	268	T>A		No	ClinGen ExAC gnomAD
rs782685780 CA10394434	269	K>R		No	ClinGen ExAC gnomAD
rs782058200 CA413044408	287	S>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	287	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10394450 rs782058200	287	S>T		No	ClinGen ExAC TOPMed gnomAD
CA413044421 rs1257456855	289	A>G		No	ClinGen TOPMed
rs782803661 CA10394451	289	A>S		No	ClinGen ExAC gnomAD
rs967639162 CA329700677	298	T>M		No	ClinGen TOPMed
rs1556368872 CA413044495	300	I>L		No	ClinGen gnomAD
CA413044505 rs1204902622	301	S>F		No	ClinGen TOPMed
rs1333463405 CA413044552	308	W>L		No	ClinGen TOPMed gnomAD
TCGA novel	309	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	316	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782548118 CA10394459	319	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	330	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10394474 rs782819199	331	I>L		No	ClinGen ExAC
CA10394475 rs781857142	334	F>L		No	ClinGen ExAC
CA10394477 rs782606752	336	V>I		No	ClinGen ExAC gnomAD
CA413044995 rs201053091	342	H>N		No	ClinGen TOPMed
rs201053091 CA329701407	342	H>Y		No	ClinGen TOPMed
CA413045008 rs1556372844	343	G>S		No	ClinGen gnomAD
CA10394479 rs782447335	346	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1049550322 CA329701408	348	T>S		No	ClinGen Ensembl
rs1556372856 CA413045154	355	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10394483 rs782637348	364	K>R		No	ClinGen ExAC gnomAD
rs1388229656 CA413045368	372	L>F		No	ClinGen TOPMed
TCGA novel	372	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782252924 CA10394484	375	A>T		No	ClinGen ExAC
rs58593047 CA329701409	375	A>V		No	ClinGen Ensembl
CA413045465 rs1556372884	380	H>Q		No	ClinGen gnomAD
rs868980752 CA413045457	380	H>Y		No	ClinGen Ensembl
rs1556372886 CA413045469	381	R>G		No	ClinGen gnomAD
TCGA novel	382	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413045522 rs782339639	386	S>I		No	ClinGen ExAC TOPMed gnomAD
rs782339639 CA10394485	386	S>N		No	ClinGen ExAC TOPMed gnomAD
CA413045536 rs1556372897	388	A>D		No	ClinGen gnomAD
CA413045533 rs1350479722	388	A>T		No	ClinGen TOPMed gnomAD
rs781961451 CA10394486	390	S>G		No	ClinGen ExAC gnomAD
CA10394487 rs782050967	392	K>E		No	ClinGen ExAC TOPMed gnomAD
CA413045574 rs1602425690	393	T>I		No	ClinGen Ensembl
CA413045571 rs1392547098	393	T>S		No	ClinGen TOPMed
rs1449241636 CA413045593	397	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1556372910 CA413045611	399	K>R		No	ClinGen gnomAD
rs782032391 CA10394489	401	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10394488 rs782325596	401	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA413045631 rs782113296	402	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1556372923 CA413045660	406	E>D		No	ClinGen gnomAD
TCGA novel	406	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	407	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143458465 CA10394491	408	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10394492 rs781825793	410	L>S		No	ClinGen ExAC gnomAD
rs1264310182 CA413045688	411	V>I		No	ClinGen TOPMed gnomAD
CA10394493 rs782052464	412	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10394494 rs782707334	414	E>K		No	ClinGen ExAC gnomAD
CA10394496 rs150948956	418	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1556372949 CA413045749	421	G>S		No	ClinGen gnomAD
CA10394498 rs781848891	424	T>K		No	ClinGen ExAC gnomAD
CA329701410 rs1013713447	428	D>N		No	ClinGen Ensembl
CA413045808 rs1556372963	430	I>V		No	ClinGen gnomAD
TCGA novel	440	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782223139 CA10394501	443	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1293714175 CA413045944	448	P>L		No	ClinGen TOPMed
rs1556372971 CA413045981	453	E>G		No	ClinGen gnomAD
rs1368432566 CA413046025	459	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA413046052 rs1293069558	463	E>G		No	ClinGen TOPMed gnomAD
rs1556372993 CA413046057	464	S>G		No	ClinGen gnomAD
CA10394504 rs138719055	464	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413046072 rs1556373000	466	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA413046101 rs797035132	470	R>I		No	ClinGen Ensembl
rs200186609 CA10394506	474	H>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	474	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1556373017 CA413046156	477	Q>H		No	ClinGen gnomAD
TCGA novel	483	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413046388 rs1343965714	499	H>Q		No	ClinGen TOPMed
rs781815660 CA10394516	500	N>S		No	ClinGen ExAC gnomAD
CA413046401 rs1556373369	501	K>Q		No	ClinGen gnomAD
CA413046457 rs1300097787	504	E>G		No	ClinGen TOPMed
rs782702968 CA10394518	505	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	506	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10394520 rs782534783	508	G>S		No	ClinGen ExAC TOPMed gnomAD
rs997189639 CA329701481	510	Q>E		No	ClinGen Ensembl
rs781830553 CA10394521	511	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200690550 CA10394522	516	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10394523 rs782473753	518	I>T		No	ClinGen ExAC
CA413046649 rs1556373391	519	D>N		No	ClinGen gnomAD
CA10394524 rs782612382	520	A>G		No	ClinGen ExAC gnomAD
TCGA novel	523	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1002030214 CA329701567	523	P>L		No	ClinGen TOPMed gnomAD
rs782065688 CA10394534	525	T>I		No	ClinGen ExAC gnomAD
rs1556373751 CA413040996	526	N>H		No	ClinGen gnomAD
CA10394535 rs782784622	527	A>V		No	ClinGen ExAC gnomAD
rs370737469 CA10394537	538	R>G		No	ClinGen ESP ExAC gnomAD
CA413041078 rs1276438401	538	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA413041087 rs1556373772	539	I>S		No	ClinGen gnomAD
CA413041092 rs1556373775	540	T>N		No	ClinGen gnomAD
rs1225395341 CA413041137	546	P>L		No	ClinGen TOPMed
rs184045617 CA10394540	549	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10394541 rs782422747	550	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1556373799 CA413041178	552	D>E		No	ClinGen gnomAD
CA10394543 rs782569962	558	T>I		No	ClinGen ExAC gnomAD
rs1375932421 CA413041236	561	D>N		No	ClinGen TOPMed
rs1375932421 CA413041237	561	D>Y		No	ClinGen TOPMed
CA10394545 rs782257519	565	H>P		No	ClinGen ExAC gnomAD
CA10394546 rs374074570	567	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1010886043 CA329701568	572	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1010886043 CA413041318	572	S>F		No	ClinGen gnomAD
CA10394549 rs149554867	574	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413041327 rs1556373826	574	H>R		No	ClinGen gnomAD
CA10394548 rs149554867	574	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10394551 rs148731538	576	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA413041352 rs1428530040	578	N>H		No	ClinGen TOPMed gnomAD
rs782139541 CA10394552	579	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782139541 CA413041360	579	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10394553 rs781949853	582	P>L		No	ClinGen ExAC gnomAD
TCGA novel	582	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782104663 CA10394554	583	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	583	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10394555 rs143159816	585	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457515850 CA413041412	587	E>K		No	ClinGen TOPMed
CA10394556 rs781812347	589	R>K		No	ClinGen ExAC gnomAD
CA10394557 rs782149552	590	T>I		No	ClinGen ExAC gnomAD
CA10394558 rs782811130	592	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782769766 CA329701570	593	Y>H		No	ClinGen 1000Genomes
CA10394560 rs781967597	594	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA413041462 rs1556373867	594	P>S		No	ClinGen gnomAD
CA10394561 rs782088124	601	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781835027 CA10394562	603	N>H		No	ClinGen ExAC gnomAD
CA10394563 rs781835027	603	N>Y		No	ClinGen ExAC gnomAD
rs373596462 CA10394565	604	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782728369 CA10394566	604	R>H	Variant assessed as Somatic; 0.000125 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10394564 rs373596462	604	R>S		No	ClinGen ExAC TOPMed gnomAD
CA413041536 rs1556373882	605	L>F		No	ClinGen gnomAD
rs782212639 CA10394568	607	A>T		No	ClinGen ExAC TOPMed gnomAD
rs781926123 CA10394570	608	S>N		No	ClinGen ExAC TOPMed gnomAD
CA329701572 rs147507918	608	S>R		No	ClinGen ESP TOPMed gnomAD
CA10394571 rs782073235	609	L>V		No	ClinGen ExAC gnomAD
CA413041579 rs1556373907	612	S>C		No	ClinGen gnomAD
rs782410121 CA10394572	613	R>K		No	ClinGen ExAC gnomAD
rs1556373917 CA413041607	616	A>G		No	ClinGen gnomAD
CA10394574 rs140120440	618	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437574900 CA413041628	619	S>C		No	ClinGen TOPMed
CA10394576 rs781816142	620	S>N		No	ClinGen ExAC gnomAD
CA10394577 rs782091904	623	W>R		No	ClinGen ExAC gnomAD
CA413041672 rs1556373938	625	T>A		No	ClinGen gnomAD
CA10394578 rs782695033	626	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1236586948 CA413041683	626	P>S		No	ClinGen TOPMed
CA10394580 rs782535172	628	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	629	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781854505 CA10394582	631	Y>C		No	ClinGen ExAC gnomAD
CA10394581 rs782812321	631	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA10394583 rs782465105	632	H>N		No	ClinGen ExAC gnomAD
rs1556373966 CA413041764	632	H>R		No	ClinGen Ensembl
CA10394585 rs370622472	637	G>R		No	ClinGen ESP ExAC gnomAD
CA10394586 rs782456437	639	P>A		No	ClinGen ExAC gnomAD
rs782143220 CA10394587	640	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA413041865 rs1556373976	641	V>F		No	ClinGen gnomAD
CA413041928 rs1239898916	646	L>F		No	ClinGen TOPMed
CA413041950 rs1351872649	647	H>Q		No	ClinGen TOPMed
CA413041958 rs1556373983	648	G>E		No	ClinGen gnomAD
CA413042006 rs782381739	652	I>N		No	ClinGen ExAC TOPMed gnomAD
CA10394589 rs782381739	652	I>T		No	ClinGen ExAC TOPMed gnomAD
rs782770073 CA10394588	652	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1331674710 CA413042018	653	G>E		No	ClinGen TOPMed
rs782443301 CA10394590	654	N>D		No	ClinGen ExAC TOPMed gnomAD
rs782204465 CA10394591	657	S>G		No	ClinGen ExAC gnomAD
CA10394592 rs782348302	662	K>N		No	ClinGen ExAC gnomAD
CA413042137 rs1385653234	662	K>R		No	ClinGen TOPMed gnomAD
CA413042141 rs1385653234	662	K>T		No	ClinGen TOPMed gnomAD
rs1288148805 CA413042182	665	K>R		No	ClinGen TOPMed
rs1288148805 CA413042180	665	K>T		No	ClinGen TOPMed
rs782058677 CA10394594	667	N>S		No	ClinGen ExAC gnomAD
rs201740623 CA10394595	668	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA413042225 rs1602427854	669	L>M		No	ClinGen Ensembl
TCGA novel	670	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1556374031 CA413042237	670	E>Q		No	ClinGen gnomAD
CA413042249 rs1556374033	671	G>S		No	ClinGen gnomAD
rs1368113595 CA413042292	673	W>C		No	ClinGen TOPMed
CA413042311 rs1448757451	675	G>R		No	ClinGen TOPMed gnomAD
CA413042317 rs1556374049	675	G>V		No	ClinGen gnomAD
rs1556374054 CA413042329	676	N>K		No	ClinGen gnomAD
CA329701577 rs918908661	679	Q>R		No	ClinGen gnomAD
CA413042377 rs1602427894	680	K>T		No	ClinGen Ensembl
TCGA novel	681	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573298132 CA10394597	683	S>L		No	ClinGen ExAC TOPMed gnomAD
CA10394598 rs782730015	684	S>N		No	ClinGen ExAC gnomAD
TCGA novel	686	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10394599 rs781838736	686	M>K		No	ClinGen ExAC gnomAD
CA413042515 rs1556374070	689	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA413042532 rs1556374072	690	Q>R		No	ClinGen gnomAD
CA10394600 rs782452158	692	P>R		No	ClinGen ExAC gnomAD
CA10394602 rs781893262	697	H>D		No	ClinGen ExAC gnomAD
rs781893262 CA10394603	697	H>Y		No	ClinGen ExAC gnomAD
rs1556374092 CA413042604	698	L>V		No	ClinGen gnomAD
CA413042607 rs1247132243	698	L>W		No	ClinGen TOPMed gnomAD
CA413042610 rs1556374102	699	V>I		No	ClinGen gnomAD
CA413042639 rs1556374109	703	S>G		No	ClinGen gnomAD
rs1556374115 CA413042645	703	S>R		No	ClinGen gnomAD
TCGA novel	705	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782643098 CA10394604	707	S>C		No	ClinGen ExAC gnomAD
TCGA novel	707	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA329701578 rs782174101	708	T>S		No	ClinGen Ensembl
CA10394606 rs782460646	709	V>I		No	ClinGen ExAC gnomAD
rs782170945 CA10394608	711	H>R		No	ClinGen ExAC TOPMed gnomAD
CA10394607 rs782619667	711	H>Y		No	ClinGen ExAC gnomAD
CA413042773 rs1556374139	714	R>G		No	ClinGen gnomAD
rs373703041 CA10394610	720	T>A		No	ClinGen ESP ExAC gnomAD
rs782295483 CA10394611	721	N>K		No	ClinGen ExAC gnomAD
rs1228992363 CA413042878	721	N>S		No	ClinGen TOPMed gnomAD
CA413042885 rs1556374160	722	R>G		No	ClinGen gnomAD
CA10394612 rs367575533	724	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs782101073 CA10394615	732	C>W		No	ClinGen ExAC gnomAD
CA10394616 rs782596388	733	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10394617 rs782148210	737	T>P		No	ClinGen ExAC TOPMed gnomAD
CA10394619 rs372926726	740	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10394620 rs782141689	741	S>N		No	ClinGen ExAC gnomAD
CA413043222 rs1390313497	745	Q>E		No	ClinGen TOPMed
rs781835548 CA10394622	746	F>L		No	ClinGen ExAC gnomAD
rs35292182 CA10394621	746	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1055389651 CA329701579	747	W>L		No	ClinGen TOPMed gnomAD
rs1556374199 CA413043270	748	G>S		No	ClinGen gnomAD
CA10394623 rs782429667	751	V>I		No	ClinGen ExAC gnomAD
CA413043321 rs1373665533	752	L>V		No	ClinGen TOPMed
rs781883396 CA10394625	754	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs149868129 CA10394624	754	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271674612 CA413043364	756	A>T		No	ClinGen TOPMed
CA329701580 rs1011396579	757	G>R		No	ClinGen TOPMed
CA413043392 rs1451335483	758	R>K		No	ClinGen TOPMed gnomAD
CA10394626 rs782541842	758	R>S		No	ClinGen ExAC gnomAD
CA413043432 rs1556374230	761	Y>C		No	ClinGen gnomAD
CA10394627 rs782639648	761	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1339635437 CA413043449	762	Q>R		No	ClinGen TOPMed gnomAD
rs1569539075 CA413043457	763	E>K		No	ClinGen Ensembl
CA10394628 rs782263776	767	Y>C		No	ClinGen ExAC gnomAD
rs1256916751 CA413043546	768	C>W		No	ClinGen TOPMed
CA10394629 rs782361340	775	D>E		No	ClinGen ExAC gnomAD
CA413043673 rs1556374243	778	A>S		No	ClinGen gnomAD
rs782571282 CA10394630	778	A>V		No	ClinGen ExAC TOPMed gnomAD
CA413043687 rs1347385266	780	S>N		No	ClinGen TOPMed gnomAD
CA413043703 rs1556374245	782	G>E		No	ClinGen gnomAD
TCGA novel	785	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782036239 CA10394633	786	K>E		No	ClinGen ExAC
rs1283787245 CA413043737	787	V>I		No	ClinGen TOPMed
CA10394635 rs376113165	789	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10394636 rs368354377	792	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1556374262 CA413043781	793	S>N		No	ClinGen gnomAD
rs144893581 CA413043790	794	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs144893581 CA10394637	794	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401260762 CA413043798	795	D>E		No	ClinGen TOPMed
CA413043799 rs1556374275	796	R>G		No	ClinGen gnomAD
CA10394639 rs140898718	798	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs140898718 CA10394638	798	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA413043829 rs1556374279	800	P>H		No	ClinGen gnomAD
rs1464117154 CA413043837	801	H>R		No	ClinGen TOPMed
rs782146002 CA10394640	803	S>C		No	ClinGen ExAC TOPMed gnomAD
CA413043852 rs782146002	803	S>F		No	ClinGen ExAC TOPMed gnomAD
CA329701581 rs782684870	804	R>T		No	ClinGen 1000Genomes
CA413043861 rs1184389011	805	R>Q		No	ClinGen TOPMed gnomAD
rs782817428 CA10394641	805	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1556374297 CA413043879	808	H>N		No	ClinGen gnomAD
rs1438114180 CA413043882	808	H>P		No	ClinGen TOPMed gnomAD
CA10394642 rs781850984	813	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1556374307 CA413043927	814	H>R		No	ClinGen gnomAD
rs1324989469 CA413043924	814	H>Y		No	ClinGen TOPMed
rs143309546 CA10394643	815	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10394644 rs143309546	815	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1602428312 CA413043943	817	S>Y		No	ClinGen Ensembl
rs1556374325 CA413043972	821	M>T		No	ClinGen gnomAD
rs1281107695 CA413043969	821	M>V		No	ClinGen TOPMed

No associated diseases with Q92613

7 regional properties for Q92613

Type	Name	Position	InterPro Accession
domain	Zinc finger, PHD-type	202 - 248	IPR001965-1
domain	Zinc finger, PHD-type	311 - 366	IPR001965-2
domain	Enhancer of polycomb-like, N-terminal	46 - 177	IPR019542
conserved_site	Zinc finger, PHD-type, conserved site	203 - 247	IPR019786
domain	Zinc finger, PHD-finger	200 - 250	IPR019787
domain	Extended PHD (ePHD) domain	252 - 366	IPR034732
domain	JADE3, PHD domain	202 - 251	IPR039550

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
histone acetyltransferase complex	A protein complex that possesses histone acetyltransferase activity.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.

9 GO annotations of biological process

Name	Definition
histone H3 acetylation	The modification of histone H3 by the addition of an acetyl group.
histone H4-K12 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 12 of the histone.
histone H4-K5 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 5 of the histone.
histone H4-K8 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 8 of the histone.
histone modification	The covalent alteration of one or more amino acid residues within a histone protein.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of DNA biosynthetic process	Any process that modulates the frequency, rate or extent of DNA biosynthetic process.
regulation of DNA replication	Any process that modulates the frequency, rate or extent of DNA replication.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95696	BRD1	Bromodomain-containing protein 1	Homo sapiens (Human)	PR
Q9SUE7	ATX4	Histone-lysine N-methyltransferase ATX4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8GZ42	ATX5	Histone-lysine N-methyltransferase ATX5	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKRHRPVSSS	DSSDESPSTS	FTSGSMYRIK	SKIPNEHKKP	AEVFRKDLIS	AMKLPDSHHI
70	80	90	100	110	120
NPDSYYLFAD	TWKEEWEKGV	QVPASPDTVP	QPSLRIIAEK	VKDVLFIRPR	KYIHCSSPDT
130	140	150	160	170	180
TEPGYINIME	LAASVCRYDL	DDMDIFWLQE	LNEDLAEMGC	GPVDENLMEK	TVEVLERHCH
190	200	210	220	230	240
ENMNHAIETE	EGLGIEYDED	VICDVCRSPD	SEEGNDMVFC	DKCNVCVHQA	CYGILKVPEG
250	260	270	280	290	300
SWLCRSCVLG	IYPQCVLCPK	KGGALKTTKT	GTKWAHVSCA	LWIPEVSIAC	PERMEPITKI
310	320	330	340	350	360
SHIPPSRWAL	VCNLCKLKTG	ACIQCSIKSC	ITAFHVTCAF	EHGLEMKTIL	DEGDEVKFKS
370	380	390	400	410	420
YCLKHSQNRQ	KLGEAEYPHH	RAKEQSQAKS	EKTSLRAQKL	RELEEEFYSL	VRVEDVAAEL
430	440	450	460	470	480
GMPTLAVDFI	YNYWKLKRKS	NFNKPLFPPK	EDEENGLVQP	KEESIHTRMR	MFMHLRQDLE
490	500	510	520	530	540
RVRNLCYMIS	RREKLKLSHN	KIQEQIFGLQ	VQLLNQEIDA	GLPLTNALEN	SLFYPPPRIT
550	560	570	580	590	600
LKLKMPKSTP	EDHRNSSTET	DQQPHSPDSS	SSVHSIRNMQ	VPQESLEMRT	KSYPRYPLES
610	620	630	640	650	660
KNNRLLASLS	HSRSEAKESS	PAWRTPSSEC	YHGQSLGKPL	VLQAALHGQS	SIGNGKSQPN
670	680	690	700	710	720
SKFAKSNGLE	GSWSGNVTQK	DSSSEMFCDQ	EPVFSPHLVS	QGSFRKSTVE	HFSRSFKETT
730	740	750	760	770	780
NRWVKNTEDL	QCYVKPTKNM	SPKEQFWGRQ	VLRRSAGRAP	YQENDGYCPD	LELSDSEAES
790	800	810	820
DGNKEKVRVR	KDSSDRENPP	HDSRRDCHGK	SKTHPLSHSS	MQR