AiPD: Autoinhibited Protein Database

A4D1U4

Gene name	DENND11
Protein name	DENN domain-containing protein 11
Names	DENND11, Protein LCHN
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57189
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

8-92 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

8-92 (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 A4D1U4

Entry ID	Method	Resolution	Chain	Position	Source
AF-A4D1U4-F1	Predicted				AlphaFoldDB

327 variants for A4D1U4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA168079207 rs966649453	2	V>M		No	TOPMed ClinGen
rs1477509854 CA369541926	3	E>K		No	TOPMed gnomAD ClinGen
rs1469787594 CA369541881	4	Q>H		No	ClinGen TOPMed
CA168079206 rs1020916196	4	Q>L		No	ClinGen TOPMed
rs1182619571 CA369541877	5	G>R		No	ClinGen TOPMed
rs1010942726 CA168079194	6	D>E		No	TOPMed ClinGen
CA369541854 rs1420311427	6	D>N		No	ClinGen TOPMed
CA369541831 rs1164038638	7	A>P		No	ClinGen TOPMed
CA369541783 rs893926821	9	P>L		No	ClinGen TOPMed gnomAD
CA168079189 rs893926821	9	P>Q		No	ClinGen TOPMed gnomAD
CA168079188 rs1039183680	14	A>P		No	ClinGen TOPMed
CA369541618 rs1584731742	18	A>G		No	ClinGen Ensembl
CA168079187 rs113140381	20	S>P		No	Ensembl ClinGen
CA369541569 rs1584731723	22	P>A		No	Ensembl ClinGen
rs1271535486 CA369541412	29	A>T		No	ClinGen TOPMed
CA369541398 rs1437257908	29	A>V		No	TOPMed ClinGen
rs1259871949 CA369541371	30	G>A		No	ClinGen TOPMed
rs1186937355 CA369541283	32	W>C		No	ClinGen TOPMed
CA369541261 rs1424126145	33	G>D		No	TOPMed ClinGen
rs1197656791 CA369541239	34	R>W		No	ClinGen gnomAD
CA369541180 rs1317919346	37	G>S		No	ClinGen TOPMed gnomAD
rs1330445590 CA369541126	39	G>S		No	ClinGen gnomAD
CA369541107 rs1373226001	40	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1312618825 CA369541087	41	R>W		No	TOPMed ClinGen
CA168079166 rs941745315	42	P>L		No	ClinGen TOPMed gnomAD
rs991275339 CA168079164	43	A>P		No	TOPMed gnomAD ClinGen
rs991275339 CA369541055	43	A>T		No	TOPMed gnomAD ClinGen
CA369540878 rs1401372285	50	R>L		No	ClinGen TOPMed gnomAD
rs938486238 CA168079160	53	E>D		No	TOPMed ClinGen
rs1464640260 CA369540739	55	P>A		No	ClinGen gnomAD
CA369540676 rs1478348458	58	P>R		No	ClinGen TOPMed
CA168079146 rs928498157	61	L>P		No	ClinGen TOPMed
CA369540621 rs1392766319	62	L>M		No	ClinGen TOPMed
rs977704527 CA168079137	63	Q>H		No	ClinGen TOPMed
rs1483655668 CA369540562	65	G>R		No	gnomAD ClinGen
CA369540547 rs1232216214	66	R>S		No	ClinGen gnomAD
rs866031785 CA168079133	68	E>*		No	ClinGen Ensembl
rs1275007174 CA369540466	70	G>V		No	gnomAD ClinGen
rs1402803376 CA369540460	71	D>N		No	TOPMed ClinGen
rs1356812908 CA369540436	72	V>M		No	ClinGen gnomAD
rs1316754616 CA369540366	75	D>A		No	ClinGen TOPMed
rs1316780367 CA369540353	76	Q>K		No	ClinGen gnomAD
rs1228371210 CA369540347	76	Q>R		No	ClinGen gnomAD
rs1277296883 CA369540298	79	A>D		No	gnomAD ClinGen
CA369540301 rs1372032771	79	A>S		No	ClinGen gnomAD
CA369540236 rs1306314246	83	V>A		No	TOPMed ClinGen
rs1440582725 CA369540230	84	T>A		No	gnomAD ClinGen
CA369540227 rs1236739390	84	T>I		No	gnomAD ClinGen
rs1584731550 CA369540178	87	P>H		No	Ensembl ClinGen
rs1308944391 CA369540179	87	P>S		No	gnomAD ClinGen
rs1286922603 CA369540173	88	R>C		No	ClinGen TOPMed
rs1286922603 CA369540169	88	R>G		No	TOPMed ClinGen
rs1584731542 CA369540165	88	R>P		No	Ensembl ClinGen
rs1203142729 CA369540156	89	S>*		No	ClinGen TOPMed
rs1203142729 CA369540154	89	S>L		No	ClinGen TOPMed
rs150292542 CA4518099	92	M>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs766610024 CA4518100	92	M>V		No	ExAC gnomAD ClinGen
CA369553362 rs1289591195	93	V>A		No	ClinGen TOPMed gnomAD
rs1235369258 CA369553380	93	V>I		No	TOPMed gnomAD ClinGen
CA369553300 rs1344071256	95	W>*		No	ClinGen gnomAD
CA4518098 rs773794432	96	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs771777861 CA4518097	97	L>F		No	ClinGen ExAC
rs1334155788 CA369553244	97	L>V		No	TOPMed ClinGen
rs761380648 CA4518096	98	P>H		No	ExAC gnomAD ClinGen
rs773926127 CA4518095	100	D>G		No	ExAC gnomAD ClinGen
CA4518093 rs748853735	101	I>T		No	ExAC gnomAD ClinGen
CA4518094 rs768380924	101	I>V		No	ClinGen ExAC gnomAD
rs775361873 CA4518092	102	D>E		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	102	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371102397 CA4518091	105	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4518090 rs368512164	105	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA168071894 rs866741848	106	V>F		No	ClinGen Ensembl
rs907959505 CA168071893	108	F>L		No	ClinGen TOPMed
CA4518089 rs781102200	109	K>N		No	ExAC gnomAD ClinGen
CA369552839 rs1191570300	110	S>C		No	ClinGen gnomAD
rs983540932 CA168071892	111	M>V		No	TOPMed ClinGen
rs1377886725 CA369552777	113	S>G		No	ClinGen gnomAD
rs952230845 CA168071891	113	S>N		No	ClinGen TOPMed
CA369552768 rs1485303198	113	S>R		No	ClinGen gnomAD
rs1256019046 CA369552724	115	S>C		No	ClinGen TOPMed
TCGA novel	115	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4518087 rs748237219	118	I>V		No	ExAC gnomAD ClinGen
CA4518086 rs374446073	120	S>P		No	ClinGen ESP ExAC gnomAD
rs267601318	122	F>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283501015 CA369552344	123	I>M		No	ClinGen TOPMed
rs755255981 CA4518085	123	I>T		No	ClinGen ExAC gnomAD
CA4518065 rs780395645	126	R>*		No	ClinGen ExAC gnomAD
rs201144560 CA4518064	126	R>Q		No	1000Genomes ExAC gnomAD ClinGen
CA4518062 rs767957371	128	G>A		No	ExAC gnomAD ClinGen
rs750844914 CA4518063	128	G>R		No	ClinGen ExAC gnomAD
rs1443688213 CA369552249	129	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1215062129 CA369552230	130	F>S		No	ClinGen TOPMed
CA4518060 rs751953719	132	G>S		No	ClinGen ExAC gnomAD
CA369552164 rs1239595052	134	A>V		No	gnomAD ClinGen
rs775162382 CA4518057	139	M>I		No	ExAC gnomAD ClinGen
CA168071799 rs571211620	139	M>K		No	Ensembl ClinGen
CA4518058 rs762367361	139	M>V		No	ExAC gnomAD ClinGen
rs764846203 CA4518056	140	P>S		No	ClinGen ExAC gnomAD
CA4518054 rs537802916	141	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA369552032 rs144852279	142	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs552019036 CA4518050	144	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs552019036 CA4518051	144	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA369551953 rs1407945406	147	R>C		No	ClinGen TOPMed
CA369551948 rs1201732231	147	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4518046 rs369765513 COSM1212077	149	A>T	large_intestine [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs781700741 COSM1086302 CA4518045	149	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4518042 rs778109586	150	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs752177264 CA4518043	150	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1418937690 CA369551887	151	M>I		No	gnomAD ClinGen
rs1278847258 CA369551891	151	M>T		No	ClinGen TOPMed
rs1017220885 CA168071796	157	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA369551793 rs1208249626	157	L>P		No	gnomAD ClinGen
rs574927240 CA4518038	159	P>A		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	161	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753427075 CA4518036	162	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772325289 CA4518035	165	Y>*		No	ExAC gnomAD ClinGen
rs527559041 CA4518034	166	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs560062584 CA4518033	166	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA4518032 rs773253448	168	M>T		No	ExAC gnomAD ClinGen
rs771927906 CA4518031	169	H>P		No	ClinGen ExAC gnomAD
CA369551339 rs1391008129	174	Q>P		No	gnomAD ClinGen
CA4518029 rs775720404	176	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4518030 rs761806017	176	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA369549780 rs1209444876	177	H>R		No	gnomAD ClinGen
CA369549758 rs754467823	178	Q>H		No	ExAC gnomAD ClinGen
CA369549622 rs971381284	187	H>D		No	TOPMed gnomAD ClinGen
rs971381284 CA168070619	187	H>Y		No	ClinGen TOPMed gnomAD
rs1460044654 CA369549549	192	Y>C		No	ClinGen TOPMed
CA369549510 rs1225670769	194	D>E		No	gnomAD ClinGen
CA369549516 rs1269411560	194	D>G		No	ClinGen gnomAD
CA369549504 rs1183166868	195	K>E		No	ClinGen TOPMed
TCGA novel	196	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765913835 CA4518005	197	G>E		No	ClinGen ExAC gnomAD
CA369549465 rs1320566168	197	G>R		No	gnomAD ClinGen
rs1320566168 CA369549463	197	G>W		No	gnomAD ClinGen
rs1416680883 CA369549435	199	L>F		No	ClinGen TOPMed gnomAD
CA168070618 rs1025220232	200	H>R		No	TOPMed ClinGen
rs1167709287 CA369549413	200	H>Y		No	ClinGen TOPMed gnomAD
rs577791918 CA4518002	201	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs371542609 CA4518001	202	G>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA369549364 rs1053403536	203	P>H		No	ClinGen TOPMed gnomAD
CA168070616 rs1053403536	203	P>L		No	TOPMed gnomAD ClinGen
TCGA novel	203	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	204	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558749920 CA4518000	204	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369549325 rs1442959164	206	G>S		No	gnomAD ClinGen
CA369549287 rs1271953656	208	S>I		No	ClinGen gnomAD
CA369549281 rs774417847	208	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1244555163 CA369549252	210	P>L		No	gnomAD ClinGen
CA4517997 rs759658805	210	P>T		No	ClinGen ExAC TOPMed gnomAD
CA168070615 rs958478397	211	P>A		No	TOPMed ClinGen
rs958478397 CA369549243	211	P>S		No	TOPMed ClinGen
rs1000982752 CA168070614	214	W>*		No	ClinGen TOPMed
rs1449017630 CA369549203	214	W>R		No	ClinGen TOPMed
CA4517996 rs776959295	216	P>A		No	ExAC gnomAD ClinGen
rs566897224 CA4517995	219	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4517994 rs747213935	220	R>*		No	ExAC TOPMed gnomAD ClinGen
CA4517993 rs367827334	220	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4517992 rs772419153	221	Y>H		No	ExAC TOPMed gnomAD ClinGen
rs1372619526 CA369549115	222	M>I		No	ClinGen gnomAD
CA369549119 rs1428284363	222	M>T		No	gnomAD ClinGen
rs1479811254 CA369549122	222	M>V		No	ClinGen TOPMed
CA369549094 rs1424298367	224	P>A		No	gnomAD ClinGen
CA4517990 rs779385143	225	E>G		No	ClinGen ExAC gnomAD
CA4517989 rs754519684	226	M>L		No	ExAC gnomAD ClinGen
TCGA novel	226	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369548256 rs1227045530	228	I>N		No	gnomAD ClinGen
CA369548259 rs1265730181	228	I>V		No	gnomAD ClinGen
CA369548202 rs1365743723	233	G>D		No	gnomAD ClinGen
rs751420153 CA4517963	233	G>S		No	ExAC TOPMed gnomAD ClinGen
CA4517962 rs201876806	235	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759584243 CA168069728	241	F>L		No	gnomAD ClinGen
CA369548065 rs1199927200	244	E>D		No	ClinGen TOPMed
rs758414760 CA4517961	244	E>K		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	245	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369548040 rs1431098325	246	I>T		No	ClinGen TOPMed
CA4517960 rs752622754	247	L>R		No	ClinGen ExAC gnomAD
CA4517959 rs766423405	248	I>T		No	ExAC gnomAD ClinGen
CA168069727 rs939337808	248	I>V		No	ClinGen TOPMed
rs968945707 CA168069726	252	F>C		No	TOPMed gnomAD ClinGen
CA369547959 rs1405181133	253	A>V		No	gnomAD ClinGen
CA369547936 rs1191365778	256	R>G		No	ClinGen TOPMed gnomAD
CA4517957 rs750648369	256	R>Q	Variant assessed as Somatic; 0.0001857 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4517955 rs761986260	258	R>C		No	ClinGen ExAC gnomAD
CA4517954 COSM1448643 rs774706582	258	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	259	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369547906 rs1269393329	259	I>V		No	gnomAD ClinGen
CA168069725 rs368574884	260	L>F		No	ClinGen ESP gnomAD
rs1587202426 CA369547880	261	I>T		No	Ensembl ClinGen
CA4517953 rs768954968	261	I>V		No	ClinGen ExAC gnomAD
TCGA novel	263	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776060905 CA4517951	264	P>S		No	ClinGen ExAC gnomAD
rs769228018 CA4517950	265	P>T		No	ExAC gnomAD ClinGen
TCGA novel	268	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369547804 rs1194221101	269	V>A		No	gnomAD ClinGen
CA4517947 rs770737118	269	V>M		No	ExAC TOPMed gnomAD ClinGen
CA369547800 rs1222058941	270	V>M		No	ClinGen TOPMed
rs758198857 CA4517944	271	C>F		No	ClinGen ExAC gnomAD
CA369547777 rs1318019970	272	Y>H		No	ClinGen TOPMed
rs747949380 CA4517926	274	V>A		No	ClinGen ExAC gnomAD
CA369547687 rs778520441	275	Y>*		No	ExAC gnomAD ClinGen
TCGA novel	275	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754949573 CA4517924	277	C>Y		No	ClinGen ExAC gnomAD
rs1340422357 CA369547611	282	N>S		No	Ensembl ClinGen
rs781310440 CA4517921	282	N>Y		No	ClinGen ExAC gnomAD
CA4517920 rs373527345	283	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs751819639 CA4517919	287	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758501488 COSM205307 CA4517917	289	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs765451918 CA4517915	290	G>V		No	ExAC TOPMed gnomAD ClinGen
rs1409999315 CA369547527	291	T>I		No	gnomAD ClinGen
rs1409999315 CA369547528	291	T>S		No	gnomAD ClinGen
rs1035880504 CA168069627	292	I>N		No	TOPMed ClinGen
rs1389643782 CA369547523	292	I>V		No	TOPMed gnomAD ClinGen
CA4517914 rs138318956	294	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA168069626 rs557274653	295	S>Y		No	TOPMed ClinGen
CA369547492 rs1459032126	296	K>E		No	ClinGen TOPMed gnomAD
rs200996503 CA4517913	297	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1261294152 CA369547467	299	F>S		No	TOPMed ClinGen
CA4517910 rs771775238	301	V>L		No	ClinGen ExAC gnomAD
CA4517909 rs771775238	301	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4517908 rs545470791	302	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4517906 rs768326324	303	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1227666469 CA369547424	306	I>V		No	ClinGen TOPMed gnomAD
CA369547413 rs1399821973 COSM3411667	307	E>D	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4517903 rs757377201	307	E>K		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	309	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369547397 rs1239591441	310	E>K		No	gnomAD ClinGen
CA4517901 rs777676969	311	V>A		No	ExAC TOPMed gnomAD ClinGen
CA369547386 rs777676969	311	V>G		No	ClinGen ExAC TOPMed gnomAD
CA168069623 rs940509716	313	V>M		No	ClinGen gnomAD
CA168069622 rs909066424	315	Y>C		No	ClinGen TOPMed
CA369547348 rs1390776928	317	A>V		No	gnomAD ClinGen
TCGA novel	321	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4517875 rs62641749	322	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA168069614 rs977142901	323	I>T		No	ClinGen TOPMed
rs751273977 CA4517873	324	F>I		No	ExAC gnomAD ClinGen
rs751273977 CA4517872	324	F>L		No	ExAC gnomAD ClinGen
rs377517916 CA369547251	325	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs775271367 CA4517869	325	E>G		No	ClinGen ExAC gnomAD
rs377517916 CA4517870	325	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA369547228 rs1340408710	326	E>D		No	gnomAD ClinGen
CA4517867 rs759525270	328	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA4517868 rs539927359	328	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA168069613 rs1036056178	329	E>K		No	Ensembl ClinGen
rs1376270517 CA369547178	331	Y>D		No	gnomAD ClinGen
CA4517865 rs772229075	333	V>I		No	ExAC TOPMed gnomAD ClinGen
CA369546614 rs1472419060	335	V>M		No	gnomAD ClinGen
CA369546576 rs1235729670	340	V>M		No	ClinGen gnomAD
CA369546552 rs1189321651	343	H>P		No	ClinGen TOPMed gnomAD
CA168069611 rs1049327325	343	H>Y		No	TOPMed ClinGen
rs199646718 CA4517863	344	H>D		No	1000Genomes ExAC gnomAD ClinGen
rs370940722 CA4517861	345	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA369546533 rs1376173765	346	H>Y		No	TOPMed ClinGen
rs756544686 COSM1448640 CA4517859	348	Q>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA369546517 rs1282998526	348	Q>H		No	gnomAD ClinGen
rs1286236741 CA369546512	349	P>L		No	ClinGen TOPMed
rs781529551 CA4517857	350	L>P		No	ExAC gnomAD ClinGen
rs1308285885 CA369546493	352	K>N		No	ClinGen TOPMed
CA4517855 rs562208418	355	S>N		No	1000Genomes ExAC gnomAD ClinGen
rs1171217643 CA369546466	356	A>G		No	ClinGen gnomAD
CA369546458 rs1411502556	357	D>E		No	gnomAD ClinGen
rs1164875123 CA369546456	358	R>G		No	gnomAD ClinGen
CA369546453 rs1461423501	358	R>T		No	TOPMed ClinGen
CA369546447 rs1250710317	359	E>*		No	ClinGen gnomAD
rs201362256 CA168069608	362	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA369546425 rs201362256	362	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
COSM1448639 rs184004901 CA4517851	362	R>H	large_intestine Variant assessed as Somatic; 4.675e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201362256 CA4517852	362	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369546422 rs550433172	363	R>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs759216455 CA4517849	363	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA4517850 rs550433172	363	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770795549 CA4517847	365	N>S		No	ClinGen ExAC TOPMed gnomAD
rs894649580 CA369546406	366	E>K		No	TOPMed gnomAD ClinGen
CA168069607 rs894649580	366	E>Q		No	TOPMed gnomAD ClinGen
COSM1312759 rs774297867 CA4517845	367	Q>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs768796820 CA4517844	368	R>K		No	ClinGen ExAC gnomAD
rs1396581275 CA369546323	376	E>K		No	gnomAD ClinGen
TCGA novel	378	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448401260 CA369546300	378	E>K		No	ClinGen TOPMed gnomAD
rs1245688663 CA369546280	379	E>K		No	ClinGen gnomAD
rs1185248644 CA369546270	379	E>V		No	ClinGen gnomAD
CA4517823 rs763103451	380	D>N		No	ExAC ClinGen
rs1261619568 CA369546217 COSM484945	381	Y>C	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs559782816 CA168069541	382	N>D		No	ClinGen 1000Genomes gnomAD
COSM86796 CA4517820 rs769944687	382	N>S	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4517819 rs746039460	383	P>S		No	ExAC gnomAD ClinGen
CA369546121 rs1401035511	386	E>D		No	ClinGen TOPMed
rs199793084 CA4517817	389	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	390	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4517816 rs747533411	390	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1482849939 CA369545378	394	L>V		No	ClinGen TOPMed gnomAD
rs1248734425 CA369545354	395	E>A		No	gnomAD ClinGen
CA4517783 rs779735592	399	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs775208026 CA168069408	399	R>W		No	ClinGen TOPMed gnomAD
rs1353485680 CA369545266	400	I>V		No	TOPMed ClinGen
rs1231308543 CA369545203	403	T>I		No	gnomAD ClinGen
rs1233309300 CA369545183	404	L>F		No	ClinGen gnomAD
rs750274765 CA4517781	411	Q>L		No	ClinGen ExAC gnomAD
CA369544982 rs1330528231	417	A>V		No	ClinGen TOPMed gnomAD
rs751532271 CA4517778	421	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs770098512 CA168069406	421	R>W		No	TOPMed gnomAD ClinGen
rs369386094 CA369544916	422	G>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs369386094 CA4517777	422	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA369544898 rs1472497904	423	M>T		No	ClinGen gnomAD
TCGA novel	424	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766642885 CA369544858	426	D>H		No	ClinGen ExAC gnomAD
CA4517774 rs766642885	426	D>Y		No	ClinGen ExAC gnomAD
CA4517772 rs760843624	428	Q>P		No	ExAC gnomAD ClinGen
CA4517771 rs200320811	429	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4517770 rs200320811	429	G>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4517767 rs768101531	431	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1496589 rs371347863 CA4517768	431	R>W	kidney [Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated
rs1175293520 CA369544769	432	S>N		No	TOPMed ClinGen
CA369544736 rs1281079234	434	L>F		No	gnomAD ClinGen
CA369544675 rs1433837556	439	E>Q		No	TOPMed ClinGen
rs974104174 CA168069404	441	Y>C		No	ClinGen TOPMed gnomAD
rs200809072 CA4517765	442	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4517766 rs200809072	442	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1428079626 CA369544583	445	V>I		No	TOPMed ClinGen
CA168069403 rs952487748	448	V>G		No	ClinGen TOPMed gnomAD
rs745462852 CA369544515	450	D>N		No	ExAC gnomAD ClinGen
CA4517763 rs745462852	450	D>Y		No	ClinGen ExAC gnomAD
CA369544498 rs1457207750	451	N>D		No	gnomAD ClinGen
rs1383168302 CA369544480	451	N>K		No	ClinGen gnomAD
TCGA novel	453	C>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	454	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4517760 rs759069132	455	P>L		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with A4D1U4

1 regional properties for A4D1U4

Type	Name	Position	InterPro Accession
domain	Tripartite DENN domain	18 - 455	IPR037516

Functions

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

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MVEQGDAAPL	LRWAEGPAVS	LPQAPQPQAG	GWGRGGGGGA	RPAAEPPRRR	EPEEPAAPEV
70	80	90	100	110	120
LLQPGRLELG	DVEEDQVVAV	FVVTFDPRSG	NMVEWCLPQD	IDLEGVEFKS	MASGSHKIQS
130	140	150	160	170	180
DFIYFRKGPF	FGLACFANMP	VESELERGAR	MKSVGILSPS	YTLLYRYMHF	LENQVRHQLE
190	200	210	220	230	240
MPGHYSHLAA	FYEDKKGVLH	AGPGRGSSLP	PVYWLPSIHR	YMYPEMKITH	PAGCMSQFIK
250	260	270	280	290	300
FFGEQILILW	KFALLRKRIL	IFSPPPVGVV	CYRVYCCCCL	ANVSLPGIGG	TIPESKPFFY
310	320	330	340	350	360
VNVADIESLE	VEVSYVACTT	EKIFEEKREL	YDVYVDNQNV	KTHHDHLQPL	LKINSADREK
370	380	390	400	410	420
YRRLNEQRQM	LLYSQEVEED	YNPCEEDLFV	LFFLEQNNRI	FQTLLEVSAS	QDKTLTAEHA
430	440	450
RGMGLDPQGD	RSFLLDLLEA	YGIDVMLVID	NPCCP