AiPD: Autoinhibited Protein Database

Q96MH2

Gene name	HEXIM2 (L3)
Protein name	Protein HEXIM2
Names	Hexamethylene bis-acetamide-inducible protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:124790
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-118 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-118 (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 Q96MH2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96MH2-F1	Predicted				AlphaFoldDB

304 variants for Q96MH2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8612190 rs1555620275	2	M>T		No	ClinGen Ensembl
CA399860561 rs1447759355	4	T>I		No	ClinGen TOPMed gnomAD
CA399860558 rs1285147086	4	T>S		No	ClinGen gnomAD
rs768342399 CA8612192	5	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8612195 rs747663194	7	Q>K		No	ClinGen ExAC gnomAD
rs771514868 CA8612196	8	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1598130181 CA399860584	8	T>P		No	ClinGen Ensembl
CA399860587 rs532271007	9	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532271007 CA8612199	9	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399860601 rs1261574657	11	N>D		No	ClinGen TOPMed
CA399860629 rs1567926447	15	P>A		No	ClinGen Ensembl
rs1345861745 CA399860631	15	P>Q		No	ClinGen TOPMed
CA399860644 rs1598130286	17	A>G		No	ClinGen Ensembl
rs1199142757 TCGA novel CA399860649	18	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs763273137 CA8612201	20	E>A		No	ClinGen ExAC gnomAD
CA399860663 rs1225823855	20	E>D		No	ClinGen TOPMed
rs150469633 CA291027697	20	E>K		No	ClinGen ESP
rs553006715 CA8612202	21	A>G		No	ClinGen ExAC TOPMed gnomAD
CA291027709 rs553006715	21	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8612203 rs371648164	22	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399860674 rs1567926576	22	K>N		No	ClinGen Ensembl
rs1451747676 CA399860673	22	K>R		No	ClinGen gnomAD
rs753750323 CA8612227	23	T>I		No	ClinGen ExAC gnomAD
rs754754344 CA8612228	24	S>F		No	ClinGen ExAC gnomAD
rs1429648965 CA399860709	26	A>V		No	ClinGen TOPMed
CA399860711 rs1567931944	27	P>A		No	ClinGen Ensembl
rs773017611 COSM1383781 CA8612232	27	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
RCV001813144 rs773017611 CA8612231	27	P>R		No	ClinGen ClinVar ExAC dbSNP
CA8612235 rs756855212	28	G>E		No	ClinGen ExAC gnomAD
rs1185666172 CA399860715	28	G>R		No	ClinGen TOPMed gnomAD
CA291031720 rs756855212	28	G>V		No	ClinGen ExAC gnomAD
CA8612236 rs780558286	30	P>L		No	ClinGen ExAC gnomAD
CA8612238 rs768996427	31	Q>R		No	ClinGen ExAC gnomAD
CA399860742 rs1169468708	32	T>I		No	ClinGen TOPMed gnomAD
rs946340345 CA291031750	33	P>L		No	ClinGen Ensembl
CA8612240 rs748603320	34	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772260628 CA8612241	34	P>H		No	ClinGen ExAC gnomAD
TCGA novel	34	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748603320 CA399860749	34	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1381336309 CA399860763	36	R>C		No	ClinGen TOPMed gnomAD
COSM166937 rs760708659 CA8612243	36	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1271467660 CA399860770	37	H>R		No	ClinGen gnomAD
rs1598148737 CA399860777	38	D>A		No	ClinGen Ensembl
CA399860797 rs1316483430	41	G>D		No	ClinGen gnomAD
rs776577740 CA8612246	42	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	43	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8612248 rs765289985	44	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399860811 rs1461071093	44	P>S		No	ClinGen TOPMed gnomAD
rs143018255 CA291031798	45	L>P		No	ClinGen ESP gnomAD
rs762877238 CA8612250	46	T>A		No	ClinGen ExAC gnomAD
CA399860823 rs1408250575	46	T>I		No	ClinGen gnomAD
rs763795808 CA8612251	47	P>S		No	ClinGen ExAC gnomAD
CA8612253 COSM187899 rs756765702	48	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399860853 rs1174357154	51	S>N		No	ClinGen gnomAD
CA8612256 rs750013841	52	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8612255 rs780570108	52	H>R		No	ClinGen ExAC gnomAD
rs1449748405 CA399860867	53	S>*		No	ClinGen TOPMed
rs1345278175 CA399860870	54	E>K		No	ClinGen TOPMed gnomAD
CA8612258 rs779522379	55	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8612259 rs779522379	55	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs556056680 CA8612260	57	D>H		No	ClinGen ExAC TOPMed gnomAD
rs556056680 CA399860893	57	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399860904 rs1225701792	58	L>P		No	ClinGen gnomAD
rs777924513 CA8612261	60	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8612262 rs142750178	61	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs112826052 CA291031841	61	A>V		No	ClinGen Ensembl
CA8612263 rs564827087	64	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1214924921 CA399860936	64	G>V		No	ClinGen gnomAD
rs1490830606 CA399860954	67	W>*		No	ClinGen gnomAD
rs73319050 CA8612265	68	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399860972 rs1420415293	70	R>G		No	ClinGen TOPMed
rs1190782946 CA399860974	70	R>K		No	ClinGen TOPMed
rs1479215997 CA399860988	72	P>A		No	ClinGen gnomAD
rs1012832720 CA291031864	72	P>L		No	ClinGen Ensembl
rs1479215997 CA399860989	72	P>S		No	ClinGen gnomAD
rs372890339 CA8612268	73	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8612267 rs775525339	73	R>W		No	ClinGen ExAC gnomAD
CA8612270 rs370295565	75	Q>*		No	ClinGen ExAC gnomAD
CA8612271 rs761550683	75	Q>H		No	ClinGen ExAC gnomAD
CA291031882 rs752687454	75	Q>R		No	ClinGen Ensembl
rs375887446 CA8612272	76	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375887446 CA291031893	76	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA291031894 rs867315326	77	P>S		No	ClinGen gnomAD
CA399861020 rs1345277124	78	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	78	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399861021 rs1345277124	78	G>V		No	ClinGen TOPMed gnomAD
rs1308451159 CA399861046	82	A>V		No	ClinGen TOPMed
TCGA novel	83	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399861071 rs1361484768	86	L>Q		No	ClinGen gnomAD
rs1223146745 CA399861078	87	A>V		No	ClinGen gnomAD
CA8612276 rs201451805	88	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399861081 rs1267872165	88	R>Q	Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399861080 rs201451805	88	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8612277 rs758705838	90	K>E		No	ClinGen ExAC gnomAD
rs1183789073 CA399861098	90	K>N		No	ClinGen gnomAD
rs1233071811 CA399861104	91	H>L		No	ClinGen gnomAD
rs1217725442 CA399861101	91	H>Y		No	ClinGen gnomAD
CA8612278 rs368642121	92	R>C	Variant assessed as Somatic; 0.000139 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368642121 CA291031938	92	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399861108 rs1156291195	92	R>H		No	ClinGen gnomAD
COSM1679876 rs747444125 CA399861112	93	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs771049148 CA399861119	94	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8612280 rs771049148	94	R>P		No	ClinGen ExAC TOPMed gnomAD
CA399861116 rs1427033580	94	R>W		No	ClinGen gnomAD
CA399861122 rs1567932892	95	P>S		No	ClinGen Ensembl
TCGA novel	96	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8612282 rs75548629	96	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399861131 rs1423022041	97	K>Q		No	ClinGen TOPMed
CA8612284 rs775507935	98	R>H		No	ClinGen ExAC TOPMed gnomAD
CA399861142 rs775507935	98	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8612283 rs769935397	98	R>S		No	ClinGen ExAC
CA291031997 rs200362016	99	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8612285 rs200362016	99	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA399861145 rs1361726162	99	K>R		No	ClinGen gnomAD
rs1055935242 CA291031999	101	H>R		No	ClinGen TOPMed
CA399861173 rs1246564788	103	R>*		No	ClinGen TOPMed gnomAD
rs1290923270 CA399861177	104	P>T		No	ClinGen gnomAD
rs768778728 CA8612286	106	L>P		No	ClinGen ExAC gnomAD
rs141737517 CA8612288	109	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8612289 rs767046158	109	S>R		No	ClinGen ExAC gnomAD
CA291032022 rs1012384506	110	W>C		No	ClinGen TOPMed
rs772950713 CA8612290	111	A>S		No	ClinGen ExAC TOPMed gnomAD
rs906175857 CA291032036	112	E>A		No	ClinGen TOPMed
CA399861259 rs1456897507	116	R>W		No	ClinGen gnomAD
CA399861265 rs1169989943	117	D>Y		No	ClinGen gnomAD
rs1567933228 CA399861307	122	Q>H		No	ClinGen Ensembl
rs758905931 CA8612295	122	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1329591497 CA399861318	124	A>S		No	ClinGen TOPMed gnomAD
rs1385325913 CA399861320	124	A>V		No	ClinGen gnomAD
rs757683854 CA8612299	126	R>P		No	ClinGen ExAC gnomAD
rs757683854 CA399861329	126	R>Q		No	ClinGen ExAC gnomAD
rs751903343 CA8612298	126	R>W		No	ClinGen ExAC gnomAD
rs781218556 CA8612300	127	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781218556 CA399861332	127	V>L		No	ClinGen ExAC TOPMed gnomAD
CA291032083 rs567654324	128	R>C		No	ClinGen 1000Genomes gnomAD
CA8612302 rs756078837	128	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749435782 CA8612304	132	F>L		No	ClinGen ExAC TOPMed gnomAD
CA291032102 rs372907073	132	F>L		No	ClinGen ESP
rs957909206 CA291032111	133	A>S		No	ClinGen TOPMed gnomAD
CA399861372 rs957909206	133	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399861380 rs1567933412	134	K>R		No	ClinGen Ensembl
CA8612305 rs768692619	135	G>S		No	ClinGen ExAC TOPMed
CA8612306 rs774469146	137	P>S		No	ClinGen ExAC gnomAD
CA399861403 rs1195957237	138	V>L		No	ClinGen gnomAD
rs772683379 CA8612309	139	A>G		No	ClinGen ExAC TOPMed gnomAD
rs574339066 CA291032150	141	Y>C		No	ClinGen Ensembl
CA8612312 rs376981377	142	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8612313 rs759100217	144	T>A		No	ClinGen ExAC gnomAD
CA399861443 rs1470507890	144	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399861449 rs1484596921	145	Q>R		No	ClinGen TOPMed
rs1239678215 CA399861507	153	P>S		No	ClinGen TOPMed
CA8612317 rs767927035	154	E>V		No	ClinGen ExAC gnomAD
CA399861518 rs1318722917	155	E>K		No	ClinGen TOPMed
rs1216534842 CA399861528	156	P>S		No	ClinGen gnomAD
CA8612318 rs750816165	157	N>S		No	ClinGen ExAC TOPMed gnomAD
rs149754907 CA291032185	159	D>G		No	ClinGen ESP TOPMed gnomAD
CA399861550 rs149754907	159	D>V		No	ClinGen ESP TOPMed gnomAD
CA291032187 COSM1209613 rs911928287	160	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1486578158 CA399861564	162	H>Y		No	ClinGen gnomAD
CA399861574 rs1205258407	163	G>R		No	ClinGen gnomAD
TCGA novel	166	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780471128 CA8612320	166	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs749347803 CA8612321	170	S>T		No	ClinGen ExAC gnomAD
rs368280523 CA8612322	171	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	172	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748130965 CA8612324	172	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1455389960 CA399861653	175	A>T		No	ClinGen TOPMed gnomAD
CA399861655 rs1430483994	175	A>V		No	ClinGen TOPMed
rs140049495 CA291032228 CA8612326	176	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399861668 rs1359818653	177	D>E		No	ClinGen TOPMed gnomAD
CA8612327 rs746840473	180	G>R		No	ClinGen ExAC gnomAD
CA8612329 rs776310591	181	R>Q		No	ClinGen ExAC gnomAD
rs1199749313 CA399861696	182	G>R		No	ClinGen Ensembl
CA8612330 rs759010472	183	R>G		No	ClinGen ExAC gnomAD
CA8612331 rs769302487	183	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs947856275 CA291032255	184	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767964538 CA8612334	185	H>R		No	ClinGen ExAC gnomAD
CA8612333 rs762374597	185	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399861715 rs1271448407	186	G>R		No	ClinGen TOPMed gnomAD
rs1271448407 CA399861716	186	G>S		No	ClinGen TOPMed gnomAD
CA8612335 rs750776421	187	E>K		No	ClinGen ExAC gnomAD
CA8612336 rs761160104	187	E>V		No	ClinGen ExAC TOPMed gnomAD
CA399861727 rs1235677428	188	F>L		No	ClinGen TOPMed
rs1434514452 CA399861738	189	Q>R		No	ClinGen gnomAD
CA399861744 rs779140604	190	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8612340 rs779140604	190	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755052898 CA8612339	190	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8612341 rs143649734	191	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA291032336 rs556732963	192	D>Y		No	ClinGen Ensembl
rs758345952 CA8612342	193	F>L		No	ClinGen ExAC gnomAD
CA291032386 rs572340836	194	S>A		No	ClinGen 1000Genomes
rs144171786 CA8612345	196	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8612349 rs146516847	197	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375058129 CA626226153	197	Y>*		No	ClinGen gnomAD
CA399861787 rs1257243071	197	Y>C		No	ClinGen TOPMed gnomAD
rs775048819 CA399861791	198	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8612350 rs775048819	198	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA399861801 rs1238549973	199	R>H		No	ClinGen TOPMed gnomAD
rs1238549973 CA399861802	199	R>P		No	ClinGen TOPMed gnomAD
CA399861800 rs1567934218	199	R>S		No	ClinGen Ensembl
rs762416851 CA8612352	200	F>V		No	ClinGen ExAC gnomAD
rs764622197 CA291032429	201	H>D		No	ClinGen TOPMed
rs375542207 CA8612353	201	H>R		No	ClinGen ESP ExAC gnomAD
CA291032439 rs868232896	203	E>*		No	ClinGen TOPMed gnomAD
CA8612354 rs773623201	203	E>D		No	ClinGen ExAC
CA399861823 rs868232896	203	E>K		No	ClinGen TOPMed gnomAD
CA399861830 rs1481705009	204	S>G		No	ClinGen gnomAD
rs200888637 CA8612355	204	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200888637 CA399861832	204	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399861834 rs1196224768	204	S>R		No	ClinGen TOPMed gnomAD
rs377535686 CA291032479	206	Q>E		No	ClinGen Ensembl
rs1185545572 CA399861844	206	Q>R		No	ClinGen gnomAD
rs1404755993 CA399861853	207	G>D		No	ClinGen gnomAD
CA399861855 rs377071715	208	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA291032492 rs543496832	208	R>H		No	ClinGen 1000Genomes gnomAD
rs377071715 CA8612357	208	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA399861859 rs759835049	209	S>C		No	ClinGen ExAC gnomAD
CA8612358 rs759835049	209	S>G		No	ClinGen ExAC gnomAD
rs1330293026 CA399861869	210	K>M		No	ClinGen TOPMed gnomAD
rs1330293026 CA399861870	210	K>R		No	ClinGen TOPMed gnomAD
CA8612359 rs199876305	211	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598151207 CA399861893	214	V>M		No	ClinGen Ensembl
CA399861900 rs1315219266	215	R>*		No	ClinGen TOPMed gnomAD
CA399861899 rs1315219266	215	R>G		No	ClinGen TOPMed gnomAD
CA399861906 rs1380512296	216	D>Y		No	ClinGen gnomAD
CA399861913 rs1228265861	217	Y>H		No	ClinGen TOPMed gnomAD
CA399861914 rs1228265861	217	Y>N		No	ClinGen TOPMed gnomAD
rs1598151273 CA399861915	217	Y>S		No	ClinGen Ensembl
CA291032498 rs1019445820	218	L>R		No	ClinGen TOPMed
rs1382838597 CA399861924	219	E>K		No	ClinGen TOPMed
rs1162314364 CA399861936	220	L>R		No	ClinGen TOPMed
rs962115345 CA291032508	223	R>G		No	ClinGen TOPMed
rs1310938581 CA399861954	223	R>Q		No	ClinGen TOPMed gnomAD
rs972068700 CA291032519	224	L>V		No	ClinGen TOPMed
rs1598151368 CA399861963	225	S>A		No	ClinGen Ensembl
rs1309661518 CA399861966	225	S>L		No	ClinGen gnomAD
CA399861970 rs1598151381	226	Q>P		No	ClinGen Ensembl
CA399861979 rs1199450673	227	A>G		No	ClinGen gnomAD
rs1199450673 CA399861980	227	A>V		No	ClinGen gnomAD
CA291032524 rs1021835275	228	E>A		No	ClinGen Ensembl
rs1021835275 CA399861984	228	E>G		No	ClinGen Ensembl
rs1598151448 CA399861993	229	E>G		No	ClinGen Ensembl
rs369009904 CA8612360	230	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA399861999 rs369009904	230	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8612361 rs758450425	232	R>T		No	ClinGen ExAC gnomAD
rs1245257493 CA399862010	232	R>W		No	ClinGen TOPMed
rs1472387829 CA399862015	233	R>G		No	ClinGen gnomAD
CA399862017 rs1180080707	233	R>K		No	ClinGen gnomAD
rs1357182299 CA399862020	233	R>S		No	ClinGen TOPMed
rs1169751439 CA399862039	236	Q>R		No	ClinGen gnomAD
CA8612362 rs777728913	237	L>R		No	ClinGen ExAC
rs965676020 CA291032540	238	Q>E		No	ClinGen gnomAD
rs1286422476 CA399862050	238	Q>L		No	ClinGen TOPMed
CA399862058 rs1336747178	239	A>G		No	ClinGen gnomAD
CA399862072 rs975794007	241	T>I		No	ClinGen TOPMed gnomAD
CA291032544 rs975794007	241	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	242	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs564994192 CA8612364	243	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1364757244 CA399862099	245	S>F		No	ClinGen TOPMed gnomAD
rs1219632786 CA399862105	246	C>F		No	ClinGen gnomAD
rs1598151764 CA399862127	249	V>G		No	ClinGen Ensembl
rs1316233999 CA399862123	249	V>L		No	ClinGen TOPMed gnomAD
CA399862122 rs1316233999	249	V>M		No	ClinGen TOPMed gnomAD
CA8612365 rs780957322	251	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1279380736 CA399862136	251	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1045858509 CA291032566	253	A>S		No	ClinGen TOPMed gnomAD
CA399862158 rs1243747568	254	A>V		No	ClinGen gnomAD
TCGA novel	255	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291032569 rs950506222	255	E>K		No	ClinGen TOPMed gnomAD
rs1598151849 CA399862171	256	V>G		No	ClinGen Ensembl
rs1481173164 CA399862176	257	Q>R		No	ClinGen gnomAD
CA399862189 rs1598151870	259	L>F		No	ClinGen Ensembl
CA8612367 rs541059400	260	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1423794803 CA399862194	260	R>W		No	ClinGen gnomAD
CA291032576 rs985023437	261	T>N		No	ClinGen Ensembl
rs1598151922 CA399862198	261	T>P		No	ClinGen Ensembl
CA399862202 rs1347452034	262	E>K		No	ClinGen gnomAD
CA399862215 rs1277287142	263	N>K		No	ClinGen gnomAD
rs1052070139 CA291032589	263	N>S		No	ClinGen TOPMed
rs1052070139 CA399862213	263	N>T		No	ClinGen TOPMed
rs73319052 CA399862226	265	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399862225 rs73319052	265	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338944053 CA399862238 COSM1383783	267	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs528033556 CA291032594	267	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8612369 rs528033556	267	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1338944053 CA399862236	267	R>S		No	ClinGen gnomAD
CA399862268 rs1344633394	271	Q>R		No	ClinGen gnomAD
TCGA novel	272	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399862272 rs1217545489	272	M>V		No	ClinGen gnomAD
rs1350515368 CA399862294	274	N>S		No	ClinGen TOPMed
rs1286497411 CA399862299	275	R>*		No	ClinGen TOPMed gnomAD
rs1354253915 CA399862301	275	R>P		No	ClinGen gnomAD
rs549304353 CA8612370	277	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA399862320 rs1270701212	278	C>Y		No	ClinGen TOPMed gnomAD
CA399862326 rs1490785782	279	R>C		No	ClinGen gnomAD
CA8612371 rs200017941	279	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA291032622 rs200017941	279	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs888995927 CA291032623	280	C>S		No	ClinGen TOPMed gnomAD
CA8612372 rs747523626	281	D>V		No	ClinGen ExAC TOPMed gnomAD
CA399862342 rs1178372801	282	E>K		No	ClinGen gnomAD
rs1315677175 CA399862345	282	E>V		No	ClinGen TOPMed
CA8612373 rs771634473	284	P>R		No	ClinGen ExAC gnomAD
CA8612375 rs760029444	286	T>A		No	ClinGen ExAC gnomAD

No associated diseases with Q96MH2

No regional properties for Q96MH2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96MH2

Functions

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

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.

4 GO annotations of molecular function

Name	Definition
7SK snRNA binding	Binding to a 7SK small nuclear RNA (7SK snRNA).
cyclin-dependent protein serine/threonine kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a cyclin-dependent protein serine/threonine kinase.
identical protein binding	Binding to an identical protein or proteins.
snRNA binding	Binding to a small nuclear RNA (snRNA).

3 GO annotations of biological process

Name	Definition
negative regulation of cyclin-dependent protein serine/threonine kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0X0C4	HEXIM1	Protein HEXIM1	Bos taurus (Bovine)	PR
O94992	HEXIM1	Protein HEXIM1	Homo sapiens (Human)	SS

10	20	30	40	50	60
MMATPNQTAC	NAESPVALEE	AKTSGAPGSP	QTPPERHDSG	GSLPLTPRME	SHSEDEDLAG
70	80	90	100	110	120
AVGGLGWNSR	SPRTQSPGGC	SAEAVLARKK	HRRRPSKRKR	HWRPYLELSW	AEKQQRDERQ
130	140	150	160	170	180
SQRASRVREE	MFAKGQPVAP	YNTTQFLMND	RDPEEPNLDV	PHGISHPGSS	GESEAGDSDG
190	200	210	220	230	240
RGRAHGEFQR	KDFSETYERF	HTESLQGRSK	QELVRDYLEL	EKRLSQAEEE	TRRLQQLQAC
250	260	270	280
TGQQSCRQVE	ELAAEVQRLR	TENQRLRQEN	QMWNREGCRC	DEEPGT