AiPD: Autoinhibited Protein Database

Q9H9L4

Gene name	KANSL2 (C12orf41, NSL2)
Protein name	KAT8 regulatory NSL complex subunit 2
Names	NSL complex protein NSL2, Non-specific lethal 2 homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54934
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

93-204 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

93-204 (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

2 structures for Q9H9L4

Entry ID	Method	Resolution	Chain	Position	Source
4CY2	X-ray	200 A	C	406-417	PDB
AF-Q9H9L4-F1	Predicted				AlphaFoldDB

353 variants for Q9H9L4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001251791 rs1939466268	381	D>V	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
CA384568712 rs1180843432	3	R>S		No	ClinGen gnomAD
TCGA novel	5	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472843429 CA384568702	5	R>W		No	ClinGen TOPMed gnomAD
rs1179598167 CA384568688	7	H>R		No	ClinGen gnomAD
rs772221032 CA6539949	11	T>A		No	ClinGen ExAC gnomAD
rs577436144 CA6539948	12	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6539947 rs374060905	13	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349261416 CA384568648	14	G>R		No	ClinGen TOPMed
CA6539945 rs368993174	16	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539944 rs780801002	17	T>S		No	ClinGen ExAC gnomAD
CA6539943 rs756965527	20	P>A		No	ClinGen ExAC TOPMed gnomAD
CA236576154 rs948042576	20	P>H		No	ClinGen Ensembl
CA384568611 rs756965527	20	P>S		No	ClinGen ExAC TOPMed gnomAD
CA384568607 rs1442171625	21	R>W		No	ClinGen gnomAD
CA384568588 rs1202971943	23	Q>H		No	ClinGen TOPMed
CA384568577 rs746578917	25	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6539942 rs746578917	25	P>T		No	ClinGen ExAC TOPMed gnomAD
CA384568541 rs757892896	29	A>S		No	ClinGen ExAC gnomAD
CA6539940 rs757892896	29	A>T		No	ClinGen ExAC gnomAD
CA384568536 rs1363255011	29	A>V		No	ClinGen gnomAD
rs567694800 CA6539938	31	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs755387995 CA6539937	31	T>I		No	ClinGen ExAC TOPMed gnomAD
rs567694800 CA6539939	31	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6539936 rs375924841	34	P>L		No	ClinGen ESP ExAC gnomAD
rs1189441508 CA384568462	36	S>C		No	ClinGen gnomAD
CA236576102 rs992202925	38	P>R		No	ClinGen TOPMed gnomAD
rs766581434 CA6539935	38	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760963956 CA6539934	39	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6539932 rs767770832	41	E>G		No	ClinGen ExAC gnomAD
CA384568339 rs1392487636	47	I>V		No	ClinGen TOPMed
CA236576046 rs918392024	48	K>N		No	ClinGen Ensembl
rs1282309133 CA384568302	50	I>V		No	ClinGen gnomAD
rs1330506402 CA384568294	51	L>F		No	ClinGen gnomAD
rs1290759271 CA384568286	52	E>G		No	ClinGen gnomAD
rs1403429614 CA384568275	53	D>E		No	ClinGen gnomAD
CA6539928 rs745753386	54	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6539927 rs368097444	55	N>H		No	ClinGen ESP ExAC gnomAD
rs1436799222 CA384568252	55	N>K		No	ClinGen gnomAD
rs770577034 CA6539926	59	K>R		No	ClinGen ExAC TOPMed gnomAD
rs972663439 CA236576031	60	Q>R		No	ClinGen Ensembl
CA6539925 rs373073545	62	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539923 rs758180455	64	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6539922 rs747677663	65	S>L		No	ClinGen ExAC gnomAD
rs1294733400 CA384568091	69	G>E		No	ClinGen TOPMed
CA384568083 rs1343694036	70	K>*		No	ClinGen TOPMed gnomAD
CA384568071 rs1436854199	71	R>*		No	ClinGen Ensembl
rs778352224 CA6539921	71	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs554290180 CA6539920 COSM693764	74	N>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA6539919 rs754237983	77	P>A		No	ClinGen ExAC gnomAD
CA384568005 rs754237983	77	P>S		No	ClinGen ExAC gnomAD
rs1243603483 CA384567932	83	D>Y		No	ClinGen gnomAD
CA6539893 rs764295533	85	V>L		No	ClinGen ExAC gnomAD
rs1009414895 CA236571208	89	A>G		No	ClinGen TOPMed
rs553222449 CA236571198	91	H>R		No	ClinGen 1000Genomes
CA6539890 rs766208652	92	V>F		No	ClinGen ExAC gnomAD
rs760561861 CA6539889 COSM1361881 COSM1361880	93	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA384567842 rs1423335010	93	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384567826 rs1257422118	96	A>T		No	ClinGen TOPMed gnomAD
CA384567821 rs1424177262	96	A>V		No	ClinGen gnomAD
rs1184144066 CA384567810	98	A>V		No	ClinGen gnomAD
CA384567807 rs1250909066	99	L>F		No	ClinGen gnomAD
rs1274437913 CA384567798	100	H>R		No	ClinGen gnomAD
rs772992152 CA6539888	103	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384567758 rs767239069	105	K>N		No	ClinGen ExAC gnomAD
rs1214849839 CA384567754	106	T>I		No	ClinGen TOPMed
CA6539885 rs773868844	107	N>H		No	ClinGen ExAC gnomAD
CA384567741 rs1262951118	108	P>L		No	ClinGen TOPMed
rs371581944 CA6539884	110	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA384567721 rs1307244822	112	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6539883 rs11547848	113	E>K		No	ClinGen ExAC TOPMed gnomAD
CA384567704 rs775015748	114	T>I		No	ClinGen ExAC TOPMed
CA6539882 rs775015748	114	T>R		No	ClinGen ExAC TOPMed
TCGA novel	115	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423308804 CA384567696	116	L>V		No	ClinGen TOPMed
rs746311713 CA6539880	118	Q>R		No	ClinGen ExAC gnomAD
rs1167505903 CA384567676	119	L>V		No	ClinGen gnomAD
CA384567648 rs1417917853	123	A>S		No	ClinGen gnomAD
rs1056329296 CA236571064	124	K>R		No	ClinGen TOPMed
rs1251545506 CA384567636	125	T>A		No	ClinGen gnomAD
CA384567632 rs1370054632	125	T>I		No	ClinGen TOPMed
CA384567614 rs1207730912	128	G>V		No	ClinGen gnomAD
rs781702090 CA6539879	128	G>W		No	ClinGen ExAC gnomAD
rs757686678 CA6539878	130	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6539877 rs747304805	131	T>A		No	ClinGen ExAC TOPMed
rs777830656 CA6539876	132	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	134	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6539875 rs11547851	136	R>C		No	ClinGen ExAC gnomAD
CA6539874 rs752747162	136	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752747162 CA384567564	136	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765290125 CA6539873 CA384567549	138	E>D		No	ClinGen ExAC gnomAD
CA236571046 rs906991484	138	E>K		No	ClinGen Ensembl
TCGA novel	139	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378006942 CA384567533	141	R>*		No	ClinGen TOPMed
CA6539872 rs756055949	141	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs926433330 CA236570994	142	I>L		No	ClinGen TOPMed gnomAD
rs1386471028 CA384567526	142	I>M		No	ClinGen gnomAD
CA6539871 rs573855606	142	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA384567487 rs1389012018	146	D>V		No	ClinGen gnomAD
CA6539838 rs531067354	155	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs777330750 CA6539836	157	T>I		No	ClinGen ExAC
CA6539837 rs777330750	157	T>S		No	ClinGen ExAC
rs771591662 CA6539835	162	W>G		No	ClinGen ExAC gnomAD
CA6539834 rs761173478	163	R>T		No	ClinGen ExAC gnomAD
rs373249835 CA6539833	165	D>E		No	ClinGen 1000Genomes ExAC gnomAD
COSM230702 CA384567345 rs1203264651	166	P>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs772467766 CA6539832	167	D>A		No	ClinGen ExAC gnomAD
CA384567325 rs1445829757	169	E>G		No	ClinGen TOPMed
rs768770873 CA6539829	170	A>G		No	ClinGen ExAC gnomAD
CA6539830 rs779073889	170	A>S		No	ClinGen ExAC gnomAD
TCGA novel	173	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283709792 CA384567234	182	K>E		No	ClinGen TOPMed
TCGA novel	185	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA605232642 rs1565608151	186	V>DLLTS*		No	ClinGen Ensembl
CA6539814 rs773762811	186	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1592105903 CA384566417	189	A>S		No	ClinGen Ensembl
rs1308225589	191	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs762215147 CA6539812	193	A>D		No	ClinGen ExAC gnomAD
CA384566383 rs1405449054	194	L>P		No	ClinGen TOPMed gnomAD
rs1405449054 CA384566384	194	L>Q		No	ClinGen TOPMed gnomAD
rs1419868472 CA384566373	196	M>V		No	ClinGen gnomAD
rs780122257 CA6539808	197	R>C		No	ClinGen ExAC TOPMed gnomAD
CA384566361 rs1565608129	197	R>H		No	ClinGen Ensembl
rs769904804 CA6539807	202	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6539806 rs746987653	202	R>H		No	ClinGen ExAC gnomAD
rs776988151 CA384566294	207	Y>*		No	ClinGen gnomAD
rs199688241 CA384566286	208	I>M		No	ClinGen ExAC TOPMed gnomAD
rs752566556 CA6539803	209	D>E		No	ClinGen ExAC TOPMed gnomAD
CA236563566 rs963329417	210	Q>R		No	ClinGen Ensembl
TCGA novel	213	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208699165 CA384566216	213	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384566166 rs778815573	217	L>M		No	ClinGen ExAC TOPMed gnomAD
CA384566152 rs1290659438	217	L>P		No	ClinGen gnomAD
rs1364966251 CA384566106	220	E>K		No	ClinGen gnomAD
CA384566081 rs1435781046	221	K>R		No	ClinGen TOPMed gnomAD
CA6539800 rs753524647	222	K>Q		No	ClinGen ExAC gnomAD
rs1396068350 CA384566048	223	R>C		No	ClinGen TOPMed gnomAD
rs766050901 CA6539799	223	R>H		No	ClinGen ExAC gnomAD
rs201529709 CA236563501	224	R>*		No	ClinGen gnomAD
CA384566036 rs201529709	224	R>G		No	ClinGen gnomAD
CA6539798 rs755616374	224	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA236563495 rs941898113	227	H>N		No	ClinGen TOPMed gnomAD
CA6539796 rs567836421	227	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6539795 rs762185782	229	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1208632624 CA384565942	229	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384565937 rs1208632624	229	R>L		No	ClinGen gnomAD
CA384565936 rs1465796808	230	K>Q		No	ClinGen TOPMed gnomAD
CA6539794 rs774702641	232	E>D		No	ClinGen ExAC TOPMed gnomAD
CA384565872 rs1434155084	233	H>R		No	ClinGen TOPMed
rs1430439929 CA384565048	238	S>G		No	ClinGen gnomAD
CA236560853 rs17856316	238	S>N		No	ClinGen Ensembl
rs1374902663 CA384565036	239	S>I		No	ClinGen gnomAD
rs1374902663 COSM3359756 CA384565039 COSM3359755	239	S>N	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA384565029 rs1423812756	240	L>P		No	ClinGen gnomAD
rs1163266844 CA384565032	240	L>V		No	ClinGen gnomAD
CA236560839 rs867543567	241	L>P		No	ClinGen Ensembl
rs1372137860 CA384565019	242	T>S		No	ClinGen TOPMed
CA384565003 rs1482292463	245	E>*		No	ClinGen gnomAD
CA384564981 rs1403422005	248	L>S		No	ClinGen TOPMed
CA6539766 rs542118084	250	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA236560806 rs959436646	252	R>*		No	ClinGen gnomAD
rs867141526 CA236560804	252	R>L		No	ClinGen TOPMed
rs867141526 CA384564956	252	R>Q		No	ClinGen TOPMed
rs1242507503 CA384564953	253	E>Q		No	ClinGen gnomAD
CA384564930 rs1234850200	256	K>E		No	ClinGen gnomAD
CA384564921 rs1348432508	257	R>P		No	ClinGen gnomAD
rs755795886 CA6539764	260	C>R		No	ClinGen ExAC TOPMed gnomAD
rs374822472 CA6539763	262	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539762 rs780813538	263	R>*		No	ClinGen ExAC gnomAD
CA384564886 rs1331678381	263	R>Q		No	ClinGen gnomAD
rs1291791372 CA384564875	265	R>C		No	ClinGen gnomAD
CA384564872 rs1457481299	265	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1369503771 CA384564866	266	Q>P		No	ClinGen TOPMed gnomAD
rs1369503771 CA384564865	266	Q>R		No	ClinGen TOPMed gnomAD
rs756756408 CA6539761 COSM3710760 COSM3710759	267	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA236560728 rs575990639	267	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1343536835 CA605232595	268	Y>*		No	ClinGen gnomAD
CA236560718 rs918262100	268	Y>C		No	ClinGen TOPMed gnomAD
rs1276663843 CA384564840	270	V>A		No	ClinGen TOPMed gnomAD
CA384564826 rs1592104097	272	A>G		No	ClinGen Ensembl
CA384564821 rs1180995130	273	L>S		No	ClinGen gnomAD
CA384564815 rs1419369128	274	L>P		No	ClinGen gnomAD
rs1289337024 CA384564810	275	H>Y		No	ClinGen TOPMed
rs961281091 CA236560716	276	R>G		No	ClinGen TOPMed gnomAD
CA384564794 rs1215617579	277	Q>R		No	ClinGen TOPMed
rs1592104086 CA384564789	278	L>V		No	ClinGen Ensembl
CA384564782 rs1487884512	279	K>E		No	ClinGen gnomAD
rs1246309367 CA384564766	281	R>W		No	ClinGen TOPMed
rs1215528572 CA384564757	282	R>S		No	ClinGen gnomAD
rs1326788126 CA384564749	283	M>I		No	ClinGen gnomAD
rs1464528833 CA384564751	283	M>T		No	ClinGen TOPMed
CA236560680 rs1015896298	285	A>D		No	ClinGen TOPMed gnomAD
rs1239510769 CA384564735	286	T>A		No	ClinGen gnomAD
rs372531388 CA6539760	286	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369105510 CA236560673	287	D>G		No	ClinGen ESP
CA6539758 rs374926758	288	G>D		No	ClinGen ESP ExAC gnomAD
CA236560653 rs539158846	290	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1433776418 CA384564671	294	H>R		No	ClinGen gnomAD
CA236559220 rs376574141	295	T>A		No	ClinGen ESP TOPMed
rs745600847 CA6539743	297	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745600847 CA6539744	297	R>G		No	ClinGen ExAC gnomAD
CA384564656 rs1193498951	297	R>H		No	ClinGen TOPMed
rs745600847 CA236559211	297	R>S		No	ClinGen ExAC gnomAD
CA384564648 rs1254185634	298	S>F		No	ClinGen TOPMed
CA384564635 rs1243020348	300	Q>R		No	ClinGen gnomAD
rs780678336 CA6539742	304	A>T		No	ClinGen ExAC gnomAD
CA384564602 rs1209913100	305	F>V		No	ClinGen gnomAD
CA236559134 rs1041614958	310	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775198681 CA236559128	310	R>H		No	ClinGen gnomAD
rs1253891592 CA384564560	311	C>S		No	ClinGen gnomAD
rs770478334 CA6539741	312	S>Y		No	ClinGen ExAC gnomAD
CA6539740 rs17238800 VAR_030767	313	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	314	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236559125 rs540344779	315	S>C		No	ClinGen 1000Genomes
CA384564529 rs1282752571	316	L>F		No	ClinGen gnomAD
CA384564531 rs1282752571	316	L>I		No	ClinGen gnomAD
TCGA novel	316	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236559115 rs758914261	318	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6539738 rs758914261	318	M>T		No	ClinGen ExAC TOPMed gnomAD
rs574415109 CA6539739	318	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs753092236 CA384564510	319	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753092236 CA6539737	319	T>N		No	ClinGen ExAC TOPMed gnomAD
rs779396749 CA384564508	320	R>G		No	ClinGen ExAC gnomAD
CA6539735 rs755263183	320	R>S		No	ClinGen ExAC gnomAD
rs1295581910 CA384564499	321	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6539734 rs754135506	323	L>F		No	ClinGen ExAC gnomAD
CA384564480 rs1375625601	324	T>A		No	ClinGen TOPMed gnomAD
rs766727569 CA6539732 COSM1492949 COSM1492948	325	H>Y	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1252966200 CA384564451	326	I>S		No	ClinGen gnomAD
CA6539665 rs191655655	327	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384564434 rs1333875226	329	D>N		No	ClinGen gnomAD
rs372786876 CA6539664	330	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539662 rs767295406	333	V>I		No	ClinGen ExAC TOPMed gnomAD
CA384564405 rs767295406	333	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1306588870 CA384564400	334	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	335	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291351789 CA384564391	335	F>Y		No	ClinGen gnomAD
CA6539661 rs369490302	336	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA384564359 rs1455080142	339	Q>R		No	ClinGen TOPMed
rs1461438896 CA384564354	340	G>R		No	ClinGen gnomAD
rs763578378 CA6539659	342	E>K		No	ClinGen ExAC gnomAD
CA6539658 rs762539597	344	V>A		No	ClinGen ExAC gnomAD
rs1174879500 CA384564326	344	V>L		No	ClinGen TOPMed
rs1361662952 CA384564320	345	P>L		No	ClinGen gnomAD
CA6539657 rs775082174	349	P>S		No	ClinGen ExAC gnomAD
CA384564263 rs1457050120	351	P>R		No	ClinGen gnomAD
CA6539655 rs375462172	351	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776878662 CA6539654	353	S>G		No	ClinGen ExAC gnomAD
CA384564238 rs1191668691	353	S>R		No	ClinGen gnomAD
rs767054866 CA6539653	355	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1348316729 CA384564143	361	P>Q		No	ClinGen gnomAD
CA384564147 rs1215283905	361	P>S		No	ClinGen gnomAD
CA236553010 rs772228059	362	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1020178544 CA384564097	365	Q>*		No	ClinGen gnomAD
CA236552983 rs1020178544	365	Q>K		No	ClinGen gnomAD
rs988661862 CA236552981	367	P>L		No	ClinGen Ensembl
CA384564073 rs1372296415	367	P>S		No	ClinGen gnomAD
rs1266725714 CA384564056	368	P>L		No	ClinGen gnomAD
CA384564052 rs1371872823	369	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs780890886 CA6539645	370	M>I		No	ClinGen ExAC TOPMed gnomAD
rs750339885 CA6539646	370	M>K		No	ClinGen ExAC TOPMed gnomAD
CA384564034 rs1328552146	370	M>L		No	ClinGen gnomAD
CA384564016 rs1364586878	371	Y>C		No	ClinGen TOPMed
CA6539644 rs757072014	372	K>E		No	ClinGen ExAC gnomAD
rs1365191310 CA384563993	373	P>S		No	ClinGen gnomAD
CA6539641 COSM279255 COSM279256 rs762627177	374	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1253506714 CA384563971	375	Q>E		No	ClinGen gnomAD
CA6539640 rs752284753	376	V>E		No	ClinGen ExAC gnomAD
rs756793185 CA236552936	376	V>I		No	ClinGen TOPMed
CA6539639 rs764789685	380	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771263611 CA6539636	382	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6539637 rs777161642	382	D>N		No	ClinGen ExAC TOPMed gnomAD
CA384563891 rs777161642	382	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs761083489 CA6539635	383	L>M		No	ClinGen ExAC gnomAD
rs1592098433 CA384563848	385	A>V		No	ClinGen Ensembl
rs200133990 CA384563845	386	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6539633 rs200133990	386	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6539632 rs376708483	386	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA384563825 rs1388548239	387	P>L		No	ClinGen TOPMed
rs367630824 CA6539630	388	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539629 rs745859919	391	Y>C		No	ClinGen ExAC gnomAD
rs1362012338 CA384563757	392	L>F		No	ClinGen gnomAD
rs1310728624 CA384563744	393	S>I		No	ClinGen gnomAD
CA6539628 rs781176016	393	S>R		No	ClinGen ExAC gnomAD
rs1326831682 CA384563728	394	A>V		No	ClinGen gnomAD
CA384563725 rs1592098405	395	A>T		No	ClinGen Ensembl
CA6539627 rs757084694	396	E>D		No	ClinGen ExAC gnomAD
CA6539626 rs746824761	398	Q>L		No	ClinGen ExAC gnomAD
rs758144695 CA6539625	400	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6539624 rs758144695	400	T>P		No	ClinGen ExAC TOPMed gnomAD
CA384563630 rs1239674655	402	S>G		No	ClinGen TOPMed gnomAD
rs1372443424 CA384563559	407	F>S		No	ClinGen gnomAD
CA384563550 rs1332465009	408	S>G		No	ClinGen TOPMed
rs1038129095 CA236548802	410	D>N		No	ClinGen TOPMed
CA6539581 rs774641385	412	D>G		No	ClinGen ExAC TOPMed gnomAD
CA384563120 rs1345173760	414	V>M		No	ClinGen gnomAD
CA384563107 rs1302562160	415	G>D		No	ClinGen gnomAD
rs764304690 CA6539580	416	D>H		No	ClinGen ExAC gnomAD
rs775660061 CA6539579	417	G>D		No	ClinGen ExAC gnomAD
CA6539578 rs775660061	417	G>V		No	ClinGen ExAC gnomAD
CA6539577 rs769739543	418	M>V		No	ClinGen ExAC TOPMed
CA6539576 rs760703824	424	P>A		No	ClinGen ExAC gnomAD
CA384562960 rs1429796462	427	F>V		No	ClinGen gnomAD
rs773275463 CA6539575 COSM223543	429	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1300324142 CA384562930	429	P>S		No	ClinGen TOPMed gnomAD
rs747967006 CA384562847	436	H>N		No	ClinGen ExAC TOPMed gnomAD
CA6539572 rs747967006	436	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA384562802 rs1418005736	439	K>*		No	ClinGen gnomAD
rs1389343734 CA384562794	439	K>N		No	ClinGen TOPMed
CA6539570 rs767969816	439	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM256436 CA384562785 COSM256435 rs1475966447	440	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA384562789 rs1475966447	440	E>Q		No	ClinGen gnomAD
CA384562769 rs1263420288	441	I>V		No	ClinGen gnomAD
TCGA novel	442	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384562760 rs1458614450	442	A>T		No	ClinGen TOPMed
CA384562754 rs1218403212	442	A>V		No	ClinGen gnomAD
CA6539569 rs748872202	444	D>E		No	ClinGen ExAC gnomAD
CA384562712 rs3741628	445	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3741628 VAR_030768 CA6539568	445	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374488532 CA6539565	447	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs750988176 CA6539566	447	D>Y		No	ClinGen ExAC
CA6539564 rs757694686	448	I>V		No	ClinGen ExAC
CA384562670 rs1293387205	449	L>*		No	ClinGen TOPMed gnomAD
rs1217693894 CA384562216	450	G>V		No	ClinGen gnomAD
rs776259692 CA6539510	451	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA236548361 rs986650872	451	Q>R		No	ClinGen TOPMed
CA6539509 rs770482460	452	M>R		No	ClinGen ExAC gnomAD
CA384562160 rs1346262191	454	M>T		No	ClinGen gnomAD
CA384562165 rs1416689608	454	M>V		No	ClinGen TOPMed
CA6539507 rs199824957	457	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539506 rs199824957	457	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755392436 CA6539503	460	R>K		No	ClinGen ExAC gnomAD
CA6539502 rs749582872	461	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1218468459 CA384562061	462	Q>R		No	ClinGen TOPMed
rs780438581 CA6539501	463	G>R		No	ClinGen ExAC TOPMed gnomAD
rs565027693 CA6539499	465	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565027693 CA6539500	465	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6539498 rs143827771	465	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1174295229 CA384561951	471	S>F		No	ClinGen gnomAD
CA384561930 rs1372354893	473	P>L		No	ClinGen gnomAD
rs1250338013 CA384561905	475	S>F		No	ClinGen TOPMed
rs765084330 CA384561899	476	Q>*		No	ClinGen ExAC gnomAD
rs765084330 CA6539495	476	Q>E		No	ClinGen ExAC gnomAD
CA384561890 rs1187258086	476	Q>H		No	ClinGen gnomAD
rs759312716 CA6539494	476	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA384561879 rs1189865888	477	S>R		No	ClinGen gnomAD
rs1183100897 CA384561874	478	G>R		No	ClinGen TOPMed
rs779116728 CA6539493	483	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1194653822 CA384561766	486	P>R		No	ClinGen gnomAD
rs760333090 CA6539491	487	E>A		No	ClinGen ExAC gnomAD
CA384561715 rs1396087132	490	S>C		No	ClinGen TOPMed
CA384561696 rs1319499395	492	S>G		No	ClinGen gnomAD
rs1179299937 CA384561669	493	S>C		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H9L4

2 regional properties for Q9H9L4

Type	Name	Position	InterPro Accession
domain	Potential DNA-binding domain	28 - 91	IPR025927-1
domain	Potential DNA-binding domain	308 - 364	IPR025927-2

Functions

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

6 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
histone acetyltransferase complex	A protein complex that possesses histone acetyltransferase activity.
NSL complex	A histone acetyltransferase complex that catalyzes the acetylation of a histone H4 lysine residues at several positions. In human, it contains the catalytic subunit MOF, NSL1/KIAA1267, NSL2/KANSL2, NSL3/KANSL3, MCRS1, PHF20, OGT1, WDR5 and HCF1.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

7 GO annotations of biological process

Name	Definition
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
histone H4-K16 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 16 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.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of histone H3-K4 methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3.
regulation of dosage compensation by inactivation of X chromosome	Any process that modulates the frequency, rate or extent of dosage compensation, by inactivation of X chromosome.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BQR4	Kansl2	KAT8 regulatory NSL complex subunit 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MNRIRIHVLP	TNRGRITPVP	RSQEPLSCAF	THRPCSHPRL	EGQEFCIKHI	LEDKNAPFKQ
70	80	90	100	110	120
CSYISTKNGK	RCPNAAPKPE	KKDGVSFCAE	HVRRNALALH	AQMKKTNPGP	VGETLLCQLS
130	140	150	160	170	180
SYAKTELGSQ	TPESSRSEAS	RILDEDSWSD	GEQEPITVDQ	TWRGDPDSEA	DSIDSDQEDP
190	200	210	220	230	240
LKHAGVYTAE	EVALIMREKL	IRLQSLYIDQ	FKRLQHLLKE	KKRRYLHNRK	VEHEALGSSL
250	260	270	280	290	300
LTGPEGLLAK	ERENLKRLKC	LRRYRQRYGV	EALLHRQLKE	RRMLATDGAA	QQAHTTRSSQ
310	320	330	340	350	360
RCLAFVDDVR	CSNQSLPMTR	HCLTHICQDT	NQVLFKCCQG	SEEVPCNKPV	PVSLSEDPCC
370	380	390	400	410	420
PLHFQLPPQM	YKPEQVLSVP	DDLEAGPMDL	YLSAAELQPT	ESLPLEFSDD	LDVVGDGMQC
430	440	450	460	470	480
PPSPLLFDPS	LTLEDHLVKE	IAEDPVDILG	QMQMAGDGCR	SQGSRNSEKA	SAPLSQSGLA
490
TANGKPEPTS	IS