AiPD: Autoinhibited Protein Database

Q8N2C3

Gene name	DEPDC4
Protein name	DEP domain-containing protein 4
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:120863
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

2-75 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

2-75 (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 Q8N2C3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N2C3-F1	Predicted				AlphaFoldDB

254 variants for Q8N2C3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs764815513	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592916413 CA386206279	2	V>G		No	ClinGen Ensembl
rs1250181920 COSM430140 CA386206284	2	V>M	Variant assessed as Somatic; 9.303e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761304517 CA386206273	3	P>A		No	ClinGen ExAC TOPMed gnomAD
rs202033836 CA6737931	3	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202033836 CA386206265	3	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6737932 rs761304517	3	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760521648 CA6737929	4	G>E		No	ClinGen ExAC gnomAD
rs371547063 CA6737930	4	G>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	4	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138334644 CA6737928	5	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA386206225 rs759572917 CA6737925	6	E>D		No	ClinGen ExAC gnomAD
TCGA novel	6	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773111860 CA6737924	7	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1297609453 CA386206222	7	P>S		No	ClinGen TOPMed gnomAD
rs1031798162 CA242333524	8	A>E		No	ClinGen TOPMed
CA6737921 rs201955379	8	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386206199 rs1422980495	9	R>C		No	ClinGen gnomAD
rs200439926 CA6737919	10	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6737918 rs780427983	10	E>D		No	ClinGen ExAC gnomAD
CA242333523 rs200439926	10	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6737917 rs147456773	11	L>F		No	ClinGen ESP ExAC gnomAD
CA242333516 rs906665269	11	L>H		No	ClinGen TOPMed
CA6737914 rs756777112	12	M>I		No	ClinGen ExAC gnomAD
rs746377915 CA386206165 CA6737916	12	M>L		No	ClinGen ExAC gnomAD
CA242333510 rs779354682	12	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6737915 rs779354682	12	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6737913 rs542496804	13	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6737912 rs542496804	13	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767437828 CA386206130	14	V>A		No	ClinGen ExAC gnomAD
CA6737909 rs767437828	14	V>G		No	ClinGen ExAC gnomAD
CA6737910 rs752487073	14	V>I		No	ClinGen ExAC gnomAD
rs1347087703 CA386206106	16	L>F		No	ClinGen gnomAD
CA6737907 rs774344054	16	L>S		No	ClinGen ExAC gnomAD
CA6737906 rs766288348	17	T>I		No	ClinGen ExAC gnomAD
CA386206098 rs766288348	17	T>N		No	ClinGen ExAC gnomAD
rs1289057466 CA386206090	18	P>A		No	ClinGen TOPMed
rs776614474 CA242333468	18	P>L		No	ClinGen ExAC gnomAD
CA6737904 rs776614474	18	P>R		No	ClinGen ExAC gnomAD
CA386206088 rs1289057466	18	P>S		No	ClinGen TOPMed
CA6737903 rs768828014	19	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1455388549 CA386206067	20	F>L		No	ClinGen gnomAD
rs1362154863 CA386206051	21	R>C		No	ClinGen gnomAD
CA6737901 rs189364541	21	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6737902 rs189364541	21	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772419597 CA6737900	23	L>V		No	ClinGen ExAC gnomAD
CA6737899 rs746274385 COSM545841	26	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA386205988 rs1197700492	26	Q>R		No	ClinGen gnomAD
CA242333448 rs777136248	28	E>G		No	ClinGen Ensembl
rs757742468 CA6737897	29	L>F		No	ClinGen ExAC gnomAD
rs1261557794 CA386205931	30	P>L		No	ClinGen TOPMed
CA242333435 rs1037950117	31	G>D		No	ClinGen TOPMed gnomAD
CA386205928 rs1259632213	31	G>S		No	ClinGen gnomAD
rs1281372418 CA386205893	34	L>R		No	ClinGen gnomAD
rs764886485 CA242333434	35	N>K		No	ClinGen TOPMed gnomAD
CA6737894 rs755774466	36	G>R		No	ClinGen ExAC gnomAD
rs752407067 CA6737893	38	S>C		No	ClinGen ExAC TOPMed
CA6737892 rs754810754	39	S>C		No	ClinGen ExAC gnomAD
CA6737891 rs754810754	39	S>F		No	ClinGen ExAC gnomAD
CA6737889 rs766311814	41	N>D		No	ClinGen ExAC gnomAD
rs1413730976 CA386205801	42	R>G		No	ClinGen TOPMed
CA6737887 rs367934910	43	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6737886 rs578077180	44	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs578077180 CA6737885	44	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA386205722 rs1406160002	45	G>A		No	ClinGen TOPMed
CA386205730 rs1477893509	45	G>R		No	ClinGen gnomAD
CA6737883 rs772328059	47	C>F		No	ClinGen ExAC gnomAD
rs746209733 CA6737882	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1194793530 CA386205661	48	R>W		No	ClinGen gnomAD
CA6737881 rs774607511	49	K>E		No	ClinGen ExAC gnomAD
rs1203745296 CA386205608	51	R>K		No	ClinGen gnomAD
CA6737880 rs771415558	51	R>S		No	ClinGen ExAC gnomAD
CA386205564 rs1300976894	52	T>A		No	ClinGen TOPMed
CA242333372 rs923375795	53	G>R		No	ClinGen TOPMed
CA6737853 rs140815673	54	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1370356096 CA386204140	55	S>C		No	ClinGen gnomAD
CA6737852 rs758114679	56	G>V		No	ClinGen ExAC gnomAD
rs1566328944 CA386204129	57	P>T		No	ClinGen Ensembl
CA6737849 rs565603230	59	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs138005134 CA6737847	60	A>P		No	ClinGen ESP ExAC gnomAD
rs138005134 CA6737848	60	A>T		No	ClinGen ESP ExAC gnomAD
rs752723266 CA6737846	61	T>A		No	ClinGen ExAC TOPMed gnomAD
rs752723266 CA386204083	61	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1237426276 CA386204059	63	L>Q		No	ClinGen TOPMed
CA386204042 rs1348213578	64	W>*		No	ClinGen TOPMed
rs368799693 CA6737844	65	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA386204036 rs1212541842	65	D>N		No	ClinGen TOPMed
rs769354353 CA6737842	67	I>T		No	ClinGen ExAC gnomAD
rs751730447 CA6737843	67	I>V		No	ClinGen ExAC TOPMed gnomAD
CA386203944 rs1351557099	72	Q>R		No	ClinGen gnomAD
CA6737839 rs770385877	73	A>S		No	ClinGen ExAC gnomAD
rs1426071291 CA386203906	75	V>M		No	ClinGen gnomAD
CA386203865 rs1171573384	77	I>M		No	ClinGen gnomAD
TCGA novel	79	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776223835 CA6737836	82	H>Y		No	ClinGen ExAC gnomAD
rs1475002329 CA386203726	87	Y>*		No	ClinGen gnomAD
rs746587724 CA6737834	87	Y>H		No	ClinGen ExAC TOPMed
CA242331212 rs140284901	88	K>E		No	ClinGen ESP TOPMed gnomAD
TCGA novel	88	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6737833 rs774981615	89	D>H		No	ClinGen ExAC gnomAD
rs1156703338 CA386203691	90	C>R		No	ClinGen gnomAD
CA6737832 rs771795502	91	F>L		No	ClinGen ExAC gnomAD
rs1566328690 CA386203660	92	T>A		No	ClinGen Ensembl
rs745619875 CA6737831	94	S>C		No	ClinGen ExAC gnomAD
rs1007456654 CA242331166	97	V>I		No	ClinGen TOPMed
TCGA novel	98	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386203588 rs747354883	98	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM933799 CA6737830 rs747354883	98	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA386203569 rs1221135874	99	V>M		No	ClinGen gnomAD
rs749224189 CA6737828	102	S>T		No	ClinGen ExAC gnomAD
rs1227030034 CA386203518	103	H>Y		No	ClinGen gnomAD
rs200181812 CA6737825	105	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6737826 rs200181812	105	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA242331133 rs994974141	106	Q>R		No	ClinGen Ensembl
rs547988936 CA6737824	108	T>M		No	ClinGen ExAC TOPMed gnomAD
rs57450214 CA6737820	113	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1346390030 CA386203356	114	D>N		No	ClinGen gnomAD
CA386203336 rs1204675675	115	I>M		No	ClinGen TOPMed
rs1315629843 CA386203312	117	C>G		No	ClinGen gnomAD
rs1315629843 CA386203314	117	C>R		No	ClinGen gnomAD
CA6737817 rs149010319	119	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM388134 rs149010319 CA6737818	119	K>E	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs149010319 CA6737816	119	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs745530351 CA6737814	120	G>A		No	ClinGen ExAC gnomAD
CA6737815 rs771572337	120	G>R		No	ClinGen ExAC TOPMed gnomAD
CA386203277 rs771572337	120	G>W		No	ClinGen ExAC TOPMed gnomAD
rs770704988 CA6737812	121	V>F		No	ClinGen ExAC gnomAD
VAR_031815 CA6737811 rs7307415	122	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs537736156 CA242331050	122	H>Y		No	ClinGen Ensembl
rs1423410442 CA386203175	127	L>P		No	ClinGen TOPMed
CA242331020 rs1049161973	129	N>S		No	ClinGen TOPMed
CA386203137 rs1264282574	130	H>R		No	ClinGen gnomAD
rs1206151765 CA386203131	131	K>E		No	ClinGen gnomAD
TCGA novel	132	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747024118 CA6737808	134	E>*		No	ClinGen ExAC gnomAD
CA386203086 rs1278368175	134	E>A		No	ClinGen gnomAD
rs776144930 CA242331016	135	P>R		No	ClinGen Ensembl
TCGA novel	137	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386203004 rs1268087874	140	K>E		No	ClinGen gnomAD
rs750679714 CA6737805	141	L>P		No	ClinGen ExAC gnomAD
rs1464095808 CA386202987	142	F>S		No	ClinGen TOPMed
rs1372274993 CA386202963	145	E>G		No	ClinGen TOPMed
CA386202942 rs1468167900	146	K>N		No	ClinGen gnomAD
rs1338575421 CA386202954	146	K>Q		No	ClinGen gnomAD
CA242330993 rs747009571	150	F>C		No	ClinGen Ensembl
CA386202882 rs757672538 CA6737803	150	F>L		No	ClinGen ExAC gnomAD
CA386202888 rs747009571	150	F>Y		No	ClinGen Ensembl
rs1421881235 CA386202860	152	D>G		No	ClinGen gnomAD
CA386202864 rs1411521894	152	D>Y		No	ClinGen gnomAD
rs1043781228 CA242330977	154	N>I		No	ClinGen TOPMed
CA386202834 rs1043781228	154	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764467834 CA6737801	155	I>V		No	ClinGen ExAC gnomAD
CA6737800 rs761263397	156	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6737799 rs752086763	156	S>R		No	ClinGen ExAC gnomAD
CA242330947 rs946519859	157	L>I		No	ClinGen Ensembl
TCGA novel	158	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556920491 CA6737798	158	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA386202792 rs1482571587	158	Y>D		No	ClinGen gnomAD
rs759110518 CA6737797	159	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770621384 CA6737795	159	R>S		No	ClinGen ExAC TOPMed gnomAD
CA386202753 rs1271978798	160	F>L		No	ClinGen gnomAD
CA386202736 rs1282839309	162	G>A		No	ClinGen TOPMed gnomAD
CA386202732 rs1282839309	162	G>V		No	ClinGen TOPMed gnomAD
CA6737794 rs762709498	163	N>S		No	ClinGen ExAC TOPMed gnomAD
rs773094108 CA6737793	166	S>C		No	ClinGen ExAC gnomAD
rs77405504 CA6737792	167	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566328117 CA919158168	167	Y>*		No	ClinGen Ensembl
rs779934056 CA6737790	168	D>N		No	ClinGen ExAC TOPMed gnomAD
CA386202604 rs1341621127	171	K>R		No	ClinGen gnomAD
rs1444085273 CA386202595	172	R>*		No	ClinGen gnomAD
CA386202589 CA386202587 rs1566328052	172	R>S		No	ClinGen Ensembl
CA386202564 rs1352571744	174	K>R		No	ClinGen gnomAD
CA386202494 rs1429354919	179	E>K		No	ClinGen gnomAD
CA386202486 rs1592906436	179	E>V		No	ClinGen Ensembl
rs1385880121 CA386202456	181	N>S		No	ClinGen gnomAD
CA6737787 rs779244698	183	T>I		No	ClinGen ExAC TOPMed gnomAD
rs374260139 CA6737767	188	Y>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1207727368 CA386202103	193	N>D		No	ClinGen gnomAD
rs921558081 CA242330125	193	N>I		No	ClinGen TOPMed
CA386202079 rs1220625685	194	P>S		No	ClinGen TOPMed
rs771215809 CA6737765	195	L>V		No	ClinGen ExAC gnomAD
rs777922694 CA6737763	196	A>V		No	ClinGen ExAC gnomAD
CA6737762 rs370965157	197	Q>L		No	ClinGen ESP ExAC gnomAD
CA386202010 rs1287725384	198	E>G		No	ClinGen TOPMed gnomAD
rs570449816 CA6737761	198	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs781643612 CA6737760	200	G>D		No	ClinGen ExAC TOPMed gnomAD
rs755515369 CA6737759	204	I>T		No	ClinGen ExAC TOPMed
CA6737758 rs751025076	208	I>T		No	ClinGen ExAC gnomAD
rs765888750 CA6737757	210	T>A		No	ClinGen ExAC gnomAD
TCGA novel	213	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	214	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386201762 rs1473628181	216	A>V		No	ClinGen gnomAD
rs757922269 CA6737756	218	C>Y		No	ClinGen ExAC gnomAD
rs975811155 CA242330027	220	N>S		No	ClinGen TOPMed
CA386201690 rs1289506867	221	I>M		No	ClinGen TOPMed gnomAD
rs1390032860 CA386201691	221	I>T		No	ClinGen gnomAD
rs750087327 CA6737755	222	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1193167267 CA386201682	222	T>R		No	ClinGen TOPMed
TCGA novel	223	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386201662 rs1423256865	224	Q>*		No	ClinGen TOPMed
CA242330026 rs1022762496	224	Q>L		No	ClinGen TOPMed
CA6737751 rs552169108	226	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6737754 rs764857616	226	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6737753 rs764857616	226	P>T		No	ClinGen ExAC TOPMed gnomAD
rs145497556 CA6737746	229	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145497556 CA6737745	229	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs147296253 CA6737747	229	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	230	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773458422 CA6737743	233	E>A		No	ClinGen ExAC gnomAD
CA242324245 rs867373552	236	W>*		No	ClinGen Ensembl
CA6737713 rs756867007	239	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs753532913 CA6737712	241	L>S		No	ClinGen ExAC TOPMed gnomAD
rs755948865 CA386200628	243	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1406551125 CA386200638	243	C>R		No	ClinGen gnomAD
rs1387991561 CA386200632	243	C>Y		No	ClinGen gnomAD
CA386200622 rs1470479979	244	L>V		No	ClinGen gnomAD
rs759306683 CA242324235	245	L>P		No	ClinGen Ensembl
rs1414168869 CA386200603	246	Q>*		No	ClinGen gnomAD
TCGA novel	247	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405992472 CA386200576	248	I>L		No	ClinGen Ensembl
CA386200565 rs767452547	249	H>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6737708 rs767452547	249	H>N		No	ClinGen ExAC gnomAD
CA386200558 rs1592893344	249	H>P		No	ClinGen Ensembl
CA386200543 rs1222620233	250	L>P		No	ClinGen gnomAD
CA6737707 rs759416635	250	L>V		No	ClinGen ExAC
CA6737706 rs750463481	251	P>A		No	ClinGen ExAC gnomAD
CA6737704 rs761947648	255	N>D		No	ClinGen ExAC gnomAD
TCGA novel	256	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6737702 rs372453399	259	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs141396798 CA6737701	259	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA6737699 rs772571684	266	L>I		No	ClinGen ExAC
rs746364276 CA6737698	267	Q>*		No	ClinGen ExAC gnomAD
CA6737697 rs188426198	269	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1205536218 CA386200298	269	N>S		No	ClinGen TOPMed
rs561521348 CA6737696	270	K>R		No	ClinGen ExAC TOPMed gnomAD
rs748854087 CA6737695	271	E>D		No	ClinGen ExAC gnomAD
rs993291237 CA242324133	274	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6737693 rs755865071	275	V>L		No	ClinGen ExAC gnomAD
CA242324123 rs1009505596	276	I>T		No	ClinGen TOPMed
CA386200197 rs1395701027	277	T>A		No	ClinGen TOPMed
rs752491869 CA6737691	277	T>S		No	ClinGen ExAC TOPMed gnomAD
rs754882817 CA6737689	279	T>A		No	ClinGen ExAC TOPMed gnomAD
CA386200168 rs754882817	279	T>S		No	ClinGen ExAC TOPMed gnomAD
rs199681201 CA6737688	281	L>I		No	ClinGen ExAC TOPMed gnomAD
rs199681201 CA386200145	281	L>V		No	ClinGen ExAC TOPMed gnomAD
rs753960746 CA6737685	282	D>E		No	ClinGen ExAC gnomAD
CA6737686 rs761861462	282	D>G		No	ClinGen ExAC TOPMed gnomAD
CA386200103 rs1279800641	284	E>G		No	ClinGen gnomAD
CA6737684 rs764249674	285	L>F		No	ClinGen ExAC gnomAD
rs775856501 CA6737682	286	I>T		No	ClinGen ExAC TOPMed gnomAD
rs760899043 CA6737683	286	I>V		No	ClinGen ExAC gnomAD
rs1430799210 CA386200024	290	C>R		No	ClinGen gnomAD
CA6737681 rs772318548	290	C>Y		No	ClinGen ExAC gnomAD

No associated diseases with Q8N2C3

1 regional properties for Q8N2C3

Type	Name	Position	InterPro Accession
domain	DEP domain	71 - 162	IPR000591

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5TB30	DEPDC1	DEP domain-containing protein 1A	Homo sapiens (Human)	PR
Q8WUY9	DEPDC1B	DEP domain-containing protein 1B	Homo sapiens (Human)	PR

10	20	30	40	50	60
MVPGEEPARE	LMAVLLTPRF	RRLVSQNELP	GPGLNGPSSR	NRRDGFCRKR	RTGCSGPFQA
70	80	90	100	110	120
TQLWDGIIHS	LQAQVEIKRR	RHHLQTYKDC	FTGSDAVDVV	LSHLMQNTCL	SSNDISCLKG
130	140	150	160	170	180
VHLCQVLMNH	KVFEPVGMKK	LFKKEKELEF	EDSNISLYRF	LGNKSSYDCC	KRQKDAENEF
190	200	210	220	230	240
NETLRPGYEM	ISNPLAQEIG	EERIEELIHT	INGNPALCPN	ITVQKPFLRL	SKEDVWKEQT
250	260	270	280	290
LLCLLQLIHL	PFLDNILEPP	VKTQNLQLNK	EEDLVITNTC	LDRELIPSLC	LPEK