AiPD: Autoinhibited Protein Database

Q96NB3

Gene name	ZNF830
Protein name	Zinc finger protein 830
Names	Coiled-coil domain-containing protein 16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:91603
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

52-131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

52-131 (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 Q96NB3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96NB3-F1	Predicted				AlphaFoldDB

295 variants for Q96NB3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1412513066 CA399083456	2	A>E		No	ClinGen gnomAD
rs1412513066 CA399083455	2	A>V		No	ClinGen gnomAD
CA399083463 rs1567676596	3	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs772833298 CA8497746	5	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8497745 rs771457523	5	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1433225688 CA399083489	6	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1378632311 CA399083493	7	A>S		No	ClinGen gnomAD
CA399083504 rs776290309	8	R>G		No	ClinGen ExAC gnomAD
rs776290309 CA8497749	8	R>W		No	ClinGen ExAC gnomAD
rs368647850 CA399083514	9	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs150545286 CA399083520	9	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368647850 CA8497750	9	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8497751 rs150545286	9	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399083526 rs140379042	10	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399083532 rs1207685833	10	P>L		No	ClinGen gnomAD
CA8497753 rs140379042	10	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367958595 CA8497755	13	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8497756 rs757428661	14	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8497758 rs750704125	15	V>A		No	ClinGen ExAC gnomAD
CA8497757 rs781513830	15	V>M		No	ClinGen ExAC gnomAD
CA8497759 rs754788464	16	I>T		No	ClinGen ExAC gnomAD
rs8073825 CA289965102 VAR_030940	16	I>V		No	ClinGen UniProt Ensembl dbSNP
CA289965103 rs998577346	17	N>D		No	ClinGen Ensembl
rs200110878 CA8497761	18	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	18	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200110878 CA8497760	18	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772110518 CA8497762	19	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1031837961 CA289965124	20	E>A		No	ClinGen Ensembl
CA399083659 rs777573061	21	L>*		No	ClinGen ExAC TOPMed gnomAD
rs777573061 CA8497763	21	L>S		No	ClinGen ExAC TOPMed gnomAD
CA399083661 rs777573061	21	L>W		No	ClinGen ExAC TOPMed gnomAD
rs199689448 CA8497765	22	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs77056680 CA8497766	24	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs759239283 CA8497767	25	M>T		No	ClinGen ExAC gnomAD
rs770134815 CA8497768	26	K>*		No	ClinGen ExAC gnomAD
CA8497769 rs775991124	30	R>C		No	ClinGen ExAC gnomAD
rs1182186321 CA399083801	32	S>G		No	ClinGen TOPMed gnomAD
CA625782243 rs1348064839	32	S>R		No	ClinGen gnomAD
CA8497770 rs763232296	33	T>S		No	ClinGen ExAC gnomAD
rs376208015 CA8497771	35	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs970259116 CA289965166	38	I>M		No	ClinGen gnomAD
CA8497772 rs774740492	38	I>T		No	ClinGen ExAC gnomAD
rs201225007 CA8497774	43	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750651010 CA8497775	44	K>N		No	ClinGen ExAC gnomAD
CA399083982 rs1335971934	46	N>T		No	ClinGen TOPMed
rs1486335386 CA399084002	47	R>P		No	ClinGen gnomAD
CA8497777 rs764933281	50	Q>R		No	ClinGen ExAC gnomAD
rs1046729888 CA289965190	52	S>N		No	ClinGen TOPMed
rs1434181358 CA399084080	53	C>F		No	ClinGen TOPMed gnomAD
CA399084077 rs1434181358	53	C>Y		No	ClinGen TOPMed gnomAD
rs1371453523 CA399084104	55	L>P		No	ClinGen gnomAD
rs1450851564 CA399084116	56	C>Y		No	ClinGen TOPMed
CA8497779 rs758139049	57	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1185505852 CA399084135	58	T>P		No	ClinGen TOPMed
CA399084148 rs777728695	60	V>F		No	ClinGen ExAC TOPMed gnomAD
rs777728695 CA8497780	60	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8497781 rs746992449	61	K>E		No	ClinGen ExAC gnomAD
CA8497782 COSM1189441 rs756741916	62	S>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8497784 rs745515824	63	E>A		No	ClinGen ExAC gnomAD
rs780742610 CA8497783	63	E>Q		No	ClinGen ExAC
rs749617311 CA8497787	65	L>V		No	ClinGen ExAC gnomAD
CA8497788 rs377669068	67	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA289921152 rs377669068	67	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399072985 rs1421700593	69	H>P		No	ClinGen gnomAD
rs762458138 CA8497790	70	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1442873640 CA399072998	71	L>P		No	ClinGen gnomAD
CA399073004 rs144252754	72	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318243084 CA399073001	72	G>R		No	ClinGen gnomAD
CA8497793 rs144252754	72	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399073018 rs1214166743	74	Q>L		No	ClinGen TOPMed
CA8497795 rs147773620	76	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8497796 rs758184419	76	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758184419 CA289921208	76	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8497799 rs757256936	77	E>D		No	ClinGen ExAC gnomAD
rs751489750 CA8497798	77	E>G		No	ClinGen ExAC TOPMed gnomAD
rs763847824 CA8497797	77	E>Q		No	ClinGen ExAC gnomAD
CA8497800 rs781112637	78	K>E		No	ClinGen ExAC gnomAD
rs748931169 CA8497804	85	A>V		No	ClinGen ExAC gnomAD
CA399073104 rs1418518427	88	A>P		No	ClinGen gnomAD
CA289921238 rs1029716615	89	S>R		No	ClinGen TOPMed gnomAD
CA8497807 rs748660196	90	Q>R		No	ClinGen ExAC gnomAD
CA8497808 rs772640506	91	G>V		No	ClinGen ExAC gnomAD
CA8497810 rs201421148	93	S>F		No	ClinGen 1000Genomes ExAC
VAR_030941 rs8078059 CA289921253	93	S>P		No	ClinGen UniProt Ensembl dbSNP
rs1169176249 CA399073154	96	S>A		No	ClinGen TOPMed
CA399073163 rs1336177217	97	A>V		No	ClinGen gnomAD
rs770958863 CA8497811	99	H>D		No	ClinGen ExAC gnomAD
CA8497812 VAR_024059 rs931196	99	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1567676885 CA399073177	100	S>P		No	ClinGen Ensembl
CA399073183 rs751293543	101	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8497815 rs751293543	101	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761614229 CA8497816	102	K>R		No	ClinGen ExAC gnomAD
CA8497817 rs767396464	103	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764842721 CA8497818	105	A>S		No	ClinGen ExAC TOPMed gnomAD
CA399073219 rs1567676915	107	D>N		No	ClinGen Ensembl
CA289921284 rs998817194	108	A>P		No	ClinGen TOPMed
CA8497822 rs754649114	110	D>Y		No	ClinGen ExAC gnomAD
rs530378221 CA8497823	113	V>I		No	ClinGen 1000Genomes
CA399073273 rs1454129082	114	K>N		No	ClinGen TOPMed gnomAD
rs778713233 CA8497825	114	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8497826 rs748465594	115	R>K		No	ClinGen ExAC gnomAD
TCGA novel	116	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231696278 CA399073291	117	K>R		No	ClinGen TOPMed
CA8497829 rs747521016	118	A>S		No	ClinGen ExAC gnomAD
CA8497830 rs771031122	118	A>V		No	ClinGen ExAC gnomAD
CA399073303 rs1287017742	119	T>I		No	ClinGen gnomAD
rs1011345508 CA399073310 CA289921320	120	L>F		No	ClinGen TOPMed gnomAD
CA8497831 rs776642849	121	V>L		No	ClinGen ExAC gnomAD
rs776642849 CA399073311	121	V>M		No	ClinGen ExAC gnomAD
CA399073320 rs1343185115	122	P>L		No	ClinGen gnomAD
CA8497833 rs769854321	122	P>S		No	ClinGen ExAC
CA289921442 rs1023062635	123	Q>*		No	ClinGen Ensembl
CA8497836 rs767343085	125	Q>K		No	ClinGen ExAC gnomAD
CA8497837 rs750335622	126	P>L		No	ClinGen ExAC gnomAD
rs1203024025 CA399073343	126	P>S		No	ClinGen gnomAD
rs1183787487 CA399073347	127	S>P		No	ClinGen gnomAD
rs375878185 CA399073353	128	T>A		No	ClinGen ESP ExAC gnomAD
rs375878185 CA8497839	128	T>S		No	ClinGen ESP ExAC gnomAD
rs970210058 CA289921521	129	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs201761649 CA8497840	131	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597772891 CA399073387	133	T>I		No	ClinGen Ensembl
CA289921555 rs375574267	135	F>L		No	ClinGen Ensembl
CA289921558 rs8078217 VAR_030942	135	F>L		No	ClinGen UniProt TOPMed dbSNP
rs1333719342 CA399073402	136	D>N		No	ClinGen TOPMed gnomAD
CA8497842 rs754529365	139	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1297058888 CA399073463	144	R>K		No	ClinGen gnomAD
CA8497843 rs778658379	145	A>E		No	ClinGen ExAC gnomAD
CA399073472 rs778658379	145	A>V		No	ClinGen ExAC gnomAD
rs1309688234 CA399073477	146	T>I		No	ClinGen gnomAD
CA8497844 rs752427543	147	P>L		No	ClinGen ExAC gnomAD
CA8497845 rs201167643	148	S>G		No	ClinGen ExAC gnomAD
CA8497846 rs778341441	149	K>E		No	ClinGen ExAC TOPMed gnomAD
CA289921588 rs371380627	149	K>N		No	ClinGen ESP TOPMed
CA8497847 rs546981945	150	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA399073518 rs1203143563	153	L>R		No	ClinGen gnomAD
VAR_024060 CA8497849 rs3744355	154	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs745890421 CA8497850	156	L>F		No	ClinGen ExAC gnomAD
CA8497853 rs749558759	158	D>H		No	ClinGen ExAC gnomAD
rs771837679 CA8497854	159	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1169180979 CA399073563	160	E>G		No	ClinGen gnomAD
TCGA novel	161	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555551775 CA8497860	161	D>E		No	ClinGen Ensembl
CA8497856 rs772944159	161	D>N		No	ClinGen ExAC gnomAD
CA8497862 rs760519317	162	E>K		No	ClinGen ExAC gnomAD
CA399073577 rs1300430039	162	E>V		No	ClinGen gnomAD
rs1372467030 CA399073585	163	E>D		No	ClinGen TOPMed
rs766170367 CA8497864	163	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399073595 rs1373533662	165	E>K		No	ClinGen gnomAD
rs568944226 CA399073609	166	E>D		No	ClinGen 1000Genomes gnomAD
rs1226422384 CA399073603	166	E>K		No	ClinGen gnomAD
rs149200056 CA8497865	169	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399073640 rs1229632912	170	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399073642 rs1388970002	171	G>R		No	ClinGen TOPMed
CA8497866 rs758928139	171	G>V		No	ClinGen ExAC gnomAD
CA399073647 rs1214148884	172	D>N		No	ClinGen gnomAD
CA399073665 rs1567677134	174	E>G		No	ClinGen Ensembl
CA399073674 rs143329267	175	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8497868 rs752386722	175	R>T		No	ClinGen ExAC gnomAD
CA399073676 rs1158948855	176	K>E		No	ClinGen TOPMed
CA8497870 rs763843536	176	K>I		No	ClinGen ExAC TOPMed gnomAD
CA289921702 rs763843536	176	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1429776679 CA399073681	177	R>G		No	ClinGen gnomAD
rs751814171 CA8497872	177	R>M		No	ClinGen ExAC gnomAD
CA399073685 rs1416360306	177	R>S		No	ClinGen gnomAD
rs751814171 CA399073684	177	R>T		No	ClinGen ExAC gnomAD
CA8497873 rs554764106	178	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399073699 rs1245121409	179	D>E		No	ClinGen TOPMed
rs35478078	179	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166156970 CA399073694	179	D>Y		No	ClinGen gnomAD
CA289921728 rs921058004	180	A>P		No	ClinGen gnomAD
rs932468622 CA289921731	181	S>C		No	ClinGen TOPMed gnomAD
rs932468622 CA399073705	181	S>G		No	ClinGen TOPMed gnomAD
CA8497874 rs781515287	181	S>R		No	ClinGen ExAC
rs1288526826 CA399073724	183	P>L		No	ClinGen TOPMed gnomAD
rs1288526826 CA399073723	183	P>R		No	ClinGen TOPMed gnomAD
rs1597773126 CA399073731	185	S>A		No	ClinGen Ensembl
CA8497876 rs756167899	185	S>C		No	ClinGen ExAC gnomAD
rs140606448 CA289921735	187	A>G		No	ClinGen ESP TOPMed
CA8497877 rs780163238	187	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399073747 rs140606448	187	A>V		No	ClinGen ESP TOPMed
rs1334117117 CA399073761	189	G>V		No	ClinGen gnomAD
rs749503744 CA8497878	190	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	193	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8497880 rs774646058	193	S>L		No	ClinGen ExAC TOPMed gnomAD
rs746731953 CA8497881	196	S>F		No	ClinGen ExAC gnomAD
rs1300585351 CA399073813	198	R>W		No	ClinGen TOPMed
CA8497882 rs568162400	199	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475207339 CA399073829	200	V>A		No	ClinGen gnomAD
rs1053177231 CA289921751	202	S>T		No	ClinGen gnomAD
rs764836739 CA399073850	203	S>R		No	ClinGen ExAC gnomAD
CA399073848 rs1158786080	203	S>T		No	ClinGen gnomAD
CA8497886 rs138219937	207	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383200631 CA399073876	208	D>N		No	ClinGen TOPMed
COSM3421424 CA399073891 rs1354884708	209	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762566395 CA8497887	211	S>N		No	ClinGen ExAC gnomAD
rs574685039 CA289921758	212	T>S		No	ClinGen Ensembl
CA289921762 rs373195985	213	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8497889 rs373195985	213	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA289921770 rs553771184	216	K>N		No	ClinGen 1000Genomes
CA289921767 rs998886218	216	K>R		No	ClinGen TOPMed gnomAD
CA399073934 rs998886218	216	K>T		No	ClinGen TOPMed gnomAD
rs767976385 CA8497891	218	P>R		No	ClinGen ExAC gnomAD
CA399073953 rs1373722262	219	I>M		No	ClinGen TOPMed
rs1372678854 CA399073952	219	I>R		No	ClinGen gnomAD
rs577105219 CA8497892	221	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8497893 rs756677290	223	S>L		No	ClinGen ExAC gnomAD
CA8497895 rs376507272	229	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755072495 CA8497896	229	A>V		No	ClinGen ExAC gnomAD
rs778961895 CA8497897	230	E>Q		No	ClinGen ExAC gnomAD
rs766029309 CA8497898	231	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770607655 CA8497899	232	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1409168484 CA399074055	235	V>L		No	ClinGen gnomAD
rs1044128783 CA399074061	236	V>L		No	ClinGen Ensembl
CA289921835 rs1044128783	236	V>M		No	ClinGen Ensembl
rs1421165316 CA399074065	237	E>K		No	ClinGen gnomAD
rs745664512 CA8497901	238	R>K		No	ClinGen ExAC gnomAD
CA289921837 rs1002989528	240	E>K		No	ClinGen Ensembl
rs1352736347 CA399074105	242	T>I		No	ClinGen gnomAD
rs1314770115 CA399074103	242	T>P		No	ClinGen gnomAD
CA8497903 rs775591667	243	A>G		No	ClinGen ExAC TOPMed gnomAD
CA399074111 rs775591667	243	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1011967264 CA289921858	244	E>G		No	ClinGen TOPMed
CA289921862 rs868481545	245	A>E		No	ClinGen TOPMed
CA399074122 rs868481545	245	A>G		No	ClinGen TOPMed
CA399074134 rs1224744032	247	P>L		No	ClinGen TOPMed
rs762515436 CA8497905	249	G>V		No	ClinGen ExAC
rs749765261	251	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA399074174 rs1295280746	253	D>N		No	ClinGen TOPMed
rs761588121 CA8497908	254	P>T		No	ClinGen ExAC gnomAD
CA399074191 rs1302244664	255	E>V		No	ClinGen gnomAD
CA8497910 rs750716828	256	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1597773362 CA399074226	260	V>G		No	ClinGen Ensembl
rs138078734 CA8497915	262	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1597773389 CA399074235	262	K>T		No	ClinGen Ensembl
rs752859511 CA8497916	263	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1394725900 CA399074257	265	A>V		No	ClinGen gnomAD
rs368011542 CA289921911	268	D>N		No	ClinGen ESP TOPMed gnomAD
rs1372768393 CA399074294	270	M>I		No	ClinGen TOPMed
rs200865532 CA8497917	271	D>N		No	ClinGen ExAC gnomAD
CA399074324 rs1417461385	274	W>*		No	ClinGen gnomAD
CA8497918 rs777871464	275	D>E		No	ClinGen ExAC gnomAD
rs780113446 CA8497921	283	Q>E		No	ClinGen ExAC gnomAD
CA399074391 rs1476101269	283	Q>P		No	ClinGen TOPMed
TCGA novel	284	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1195047 rs374059343 CA8497923	285	N>D	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1187081829 CA399074411	286	T>A		No	ClinGen TOPMed
CA399074416 rs1442641756	287	I>V		No	ClinGen gnomAD
rs1267957718 CA399074427	288	S>C		No	ClinGen gnomAD
CA8497926 rs771693404	289	E>D		No	ClinGen ExAC gnomAD
rs199730096 CA8497927	291	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8497928 rs760986868	293	A>S		No	ClinGen ExAC gnomAD
CA8497930 rs754318914	294	E>*		No	ClinGen ExAC TOPMed gnomAD
rs200903405 CA8497931	304	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399074534 rs1265735418	304	Q>L		No	ClinGen TOPMed
rs765668924 CA8497932	305	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1168530131 CA399074545	306	G>E		No	ClinGen TOPMed gnomAD
CA399074555 rs1414661974	307	E>D		No	ClinGen TOPMed
TCGA novel	309	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752765946 CA8497934	312	I>M		No	ClinGen ExAC gnomAD
rs1336909868 CA399074597	313	E>V		No	ClinGen TOPMed
CA399074620 rs1164002721	316	R>Q		No	ClinGen gnomAD
CA289921974 rs988754616	320	K>N		No	ClinGen Ensembl
CA8497937 rs751873838	322	R>W		No	ClinGen ExAC gnomAD
CA8497938 rs755955157	323	N>H		No	ClinGen ExAC gnomAD
CA399074661 rs1371256395	323	N>S		No	ClinGen TOPMed gnomAD
CA289921976 rs371342411	325	Q>*		No	ClinGen ESP
rs780055728 CA8497939	325	Q>R		No	ClinGen ExAC gnomAD
CA399074694 rs1463220730	328	I>V		No	ClinGen TOPMed
rs749236819 CA8497941	330	N>I		No	ClinGen ExAC
rs1271406188 CA399074721	331	K>N		No	ClinGen TOPMed gnomAD
rs1567677397 CA399074715	331	K>Q		No	ClinGen Ensembl
rs1342974764 CA399074727	332	L>P		No	ClinGen gnomAD
rs1164006001 CA399074724	332	L>V		No	ClinGen TOPMed
CA8497942 rs144036344	334	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs778726759 CA8497943	337	T>N		No	ClinGen ExAC gnomAD
CA289922016 rs932569486	338	I>M		No	ClinGen TOPMed
TCGA novel	338	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200413263 CA289922013	338	I>V		No	ClinGen TOPMed
CA399074782 rs1253098500	341	L>M		No	ClinGen TOPMed
CA399074803 rs1396340656	344	K>Q		No	ClinGen TOPMed gnomAD
rs1050917119 CA289922020	344	K>R		No	ClinGen TOPMed gnomAD
rs1438274878 CA399074822	346	E>G		No	ClinGen gnomAD
CA399074826 rs1446592632	347	E>K		No	ClinGen gnomAD
rs1567677436 CA399074861	351	S>N		No	ClinGen Ensembl
TCGA novel	352	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA289922024 rs890943180	355	G>R		No	ClinGen TOPMed
rs1474217786 CA399074902	357	L>V		No	ClinGen TOPMed gnomAD
CA8497946 rs772819736	358	Q>L		No	ClinGen ExAC gnomAD
rs748100839 CA8497948	359	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748100839 CA8497947	359	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs776916532 CA8497949	360	L>F		No	ClinGen ExAC gnomAD
CA399074972 rs1298436964	367	V>L		No	ClinGen gnomAD
rs775893769 CA8497952	370	A>T		No	ClinGen ExAC gnomAD
CA289922037 rs938452911	371	L>F		No	ClinGen gnomAD
rs576830024 CA289922043	373	L>Q		No	ClinGen TOPMed gnomAD

No associated diseases with Q96NB3

1 regional properties for Q96NB3

Type	Name	Position	InterPro Accession
domain	Matrin/U1-C-like, C2H2-type zinc finger	48 - 82	IPR003604

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome Nucleus speckle	Excluded from nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
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.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.

2 GO annotations of molecular function

Name	Definition
nucleic acid binding	Binding to a nucleic acid.
zinc ion binding	Binding to a zinc ion (Zn).

13 GO annotations of biological process

Name	Definition
blastocyst growth	An increase in size of a blastocyst due to expansion of the blastocoelic cavity cell shape changes and cell proliferation.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
chromosome organization	A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome.
intestinal epithelial structure maintenance	A tissue homeostatic process required for the maintenance of the structure of the intestinal epithelium.
mitotic DNA damage checkpoint signaling	A signal transduction process involved in mitotic DNA damage checkpoint.
mitotic DNA replication checkpoint signaling	A signal transduction process that contributes to a mitotic DNA replication checkpoint.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
nuclear DNA replication	The DNA-dependent DNA replication that occurs in the nucleus of eukaryotic organisms as part of the cell cycle.
ovarian follicle development	The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure.
preantral ovarian follicle growth	Increase in size of follicles surrounded by two or more layers of granulosa cells up to the onset of antrum formation.
replication fork protection	Any process that prevents the collapse of stalled replication forks.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MASSASARTP	AGKRVINQEE	LRRLMKEKQR	LSTSRKRIES	PFAKYNRLGQ	LSCALCNTPV
70	80	90	100	110	120
KSELLWQTHV	LGKQHREKVA	ELKGAKEASQ	GSSASSAPHS	VKRKAPDADD	QDVKRAKATL
130	140	150	160	170	180
VPQVQPSTSA	WTTNFDKIGK	EFIRATPSKP	SGLSLLPDYE	DEEEEEEEEE	GDGERKRGDA
190	200	210	220	230	240
SKPLSDAQGK	EHSVSSSREV	TSSVLPNDFF	STNPPKAPII	PHSGSIEKAE	IHEKVVERRE
250	260	270	280	290	300
NTAEALPEGF	FDDPEVDARV	RKVDAPKDQM	DKEWDEFQKA	MRQVNTISEA	IVAEEDEEGR
310	320	330	340	350	360
LDRQIGEIDE	QIECYRRVEK	LRNRQDEIKN	KLKEILTIKE	LQKKEEENAD	SDDEGELQDL
370
LSQDWRVKGA	LL