AiPD: Autoinhibited Protein Database

Q8IWF6

Gene name	DENND6A (FAM116A)
Protein name	Protein DENND6A
Names	DENN domain-containing protein 6A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:201627
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-81 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-81 (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 Q8IWF6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IWF6-F1	Predicted				AlphaFoldDB

400 variants for Q8IWF6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs538612480 CA2466680	3	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1432915750 CA353406137	4	R>K		No	ClinGen gnomAD
rs1422657035 CA353406133	4	R>S		No	ClinGen gnomAD
CA2466679 rs765456194	5	G>V		No	ClinGen ExAC TOPMed gnomAD
CA353406098 rs1206207411	10	G>E		No	ClinGen gnomAD
rs1246953064 CA353406102	10	G>R		No	ClinGen gnomAD
CA2466677 rs754586057	11	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353406091 rs1232303474	12	G>S		No	ClinGen gnomAD
CA353406072 rs1310263992	15	R>K		No	ClinGen gnomAD
CA353406064 rs1486926649	16	P>Q		No	ClinGen TOPMed
rs1303104738 CA353406065	16	P>S		No	ClinGen gnomAD
rs1371992324 CA353406055	17	L>F		No	ClinGen gnomAD
CA353406048 rs1432915141	18	D>E		No	ClinGen TOPMed gnomAD
rs1319976771 CA353406049	18	D>V		No	ClinGen gnomAD
rs200232741 CA75389125	19	E>D		No	ClinGen Ensembl
CA75389126 rs890289339	19	E>Q		No	ClinGen Ensembl
rs1028833759 CA75389124	20	A>G		No	ClinGen TOPMed
rs773249816 CA2466674	20	A>P		No	ClinGen ExAC gnomAD
rs1465961943 CA353406036	21	V>M		No	ClinGen gnomAD
CA353406026 rs1178685398	22	A>E		No	ClinGen gnomAD
CA353406030 rs1376344192	22	A>T		No	ClinGen gnomAD
CA353406011 rs1453393301	25	E>K		No	ClinGen TOPMed
rs1186152006 CA353406002	26	G>D		No	ClinGen TOPMed gnomAD
CA75389123 rs996041469	26	G>S		No	ClinGen Ensembl
rs1261781100 CA353405997	27	R>C		No	ClinGen gnomAD
CA353405994 rs1199847654	27	R>P		No	ClinGen gnomAD
rs1261781100 CA353405999	27	R>S		No	ClinGen gnomAD
rs774635760 CA2466671	28	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1211247175 CA353405980	30	P>A		No	ClinGen gnomAD
CA353405979 rs1211247175	30	P>S		No	ClinGen gnomAD
rs1034244260 CA75389122	31	A>T		No	ClinGen TOPMed
rs768275430 CA2466670	32	L>F		No	ClinGen ExAC gnomAD
rs1226314113 CA353405967	32	L>P		No	ClinGen gnomAD
rs1296372688 CA353405960	33	V>A		No	ClinGen gnomAD
CA353405962 rs1328316869	33	V>L		No	ClinGen gnomAD
CA353405964 rs1328316869	33	V>M		No	ClinGen gnomAD
CA2466669 rs749131418	34	A>V		No	ClinGen ExAC TOPMed gnomAD
CA353405951 rs1315198761	35	A>S		No	ClinGen gnomAD
CA353405950 rs1435679489	35	A>V		No	ClinGen gnomAD
rs1042712460 CA75389121	36	G>A		No	ClinGen Ensembl
CA353405933 rs1166375927	38	A>S		No	ClinGen TOPMed gnomAD
rs1166375927 CA353405935	38	A>T		No	ClinGen TOPMed gnomAD
CA353405919 rs1373202405	40	E>G		No	ClinGen gnomAD
CA353405913 rs1234629732	41	D>Y		No	ClinGen TOPMed
CA2466664 rs201191205	42	D>N		No	ClinGen ExAC gnomAD
CA353405900 rs1350453108	43	E>K		No	ClinGen TOPMed
rs756833179 CA2466663	44	E>K		No	ClinGen ExAC gnomAD
CA353405880 rs1482581824	45	D>E		No	ClinGen gnomAD
CA2466662 rs751118788	45	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs968560326 CA75389120	46	D>H		No	ClinGen TOPMed
CA353405864 rs1203354428	48	R>C		No	ClinGen gnomAD
CA353405857 rs1341733542	49	G>C		No	ClinGen TOPMed gnomAD
rs1481284976 CA353405856	49	G>D		No	ClinGen TOPMed
rs1341733542 CA353405859	49	G>S		No	ClinGen TOPMed gnomAD
rs754202945 CA2466659	50	R>P		No	ClinGen ExAC gnomAD
CA2466658 rs766775098	51	G>C		No	ClinGen ExAC gnomAD
CA2466657 rs761152632	53	L>P		No	ClinGen ExAC gnomAD
rs774385756 CA2466653	56	D>E		No	ClinGen ExAC gnomAD
CA2466655 rs767515111	56	D>H		No	ClinGen ExAC TOPMed gnomAD
CA353405819 rs767515111	56	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs768953218 CA2466652	57	S>G		No	ClinGen ExAC TOPMed gnomAD
rs775411951 CA2466650	60	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1217613467 CA353405781	61	W>C		No	ClinGen gnomAD
CA353405787 rs1235569623	61	W>R		No	ClinGen gnomAD
rs927435130 CA75389118	61	W>S		No	ClinGen Ensembl
CA353405777 rs1183998065	62	L>P		No	ClinGen gnomAD
rs1439791041 CA353405773	63	H>Y		No	ClinGen gnomAD
rs1251453287 CA353405766	64	C>R		No	ClinGen gnomAD
CA2466646 rs534402751	65	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2466647 rs534402751	65	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1284781328 CA353405739	68	V>L		No	ClinGen gnomAD
rs746565197 CA2466645	70	F>C		No	ClinGen ExAC gnomAD
CA353405724 rs1329068385	70	F>L		No	ClinGen TOPMed gnomAD
rs1361061726 CA353405718	71	D>G		No	ClinGen gnomAD
rs1444739008 CA353405711	72	L>P		No	ClinGen gnomAD
rs1322420708 CA353405704	73	E>D		No	ClinGen gnomAD
rs777191398 CA2466644	73	E>Q		No	ClinGen ExAC gnomAD
rs1308580617 CA353405689	76	Q>*		No	ClinGen TOPMed
rs1325990748 CA353405687	76	Q>R		No	ClinGen gnomAD
CA75389116 rs61738266	77	A>S		No	ClinGen Ensembl
CA75389115 rs866613708	78	V>L		No	ClinGen TOPMed
CA353405678 rs866613708	78	V>M		No	ClinGen TOPMed
CA353404988 rs1303638025	80	V>A		No	ClinGen gnomAD
CA353404982 rs1362468029	81	I>T		No	ClinGen gnomAD
CA2466620 rs369719122	81	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353404977 rs1271420704	82	Y>D		No	ClinGen gnomAD
rs1030986626 CA75386755	85	H>N		No	ClinGen TOPMed
CA2466618 rs752074355	86	S>Y		No	ClinGen ExAC gnomAD
CA353404944 rs1436296150	87	K>E		No	ClinGen gnomAD
rs1575856629 CA353404904	90	D>V		No	ClinGen Ensembl
TCGA novel	92	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2466603 rs781616401	95	N>I		No	ClinGen ExAC gnomAD
rs781616401 CA2466602	95	N>S		No	ClinGen ExAC gnomAD
rs896810785 CA75386747	97	C>Y		No	ClinGen TOPMed
TCGA novel	98	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757568538 CA2466600	103	D>G		No	ClinGen ExAC gnomAD
rs1575850686 CA353404016	108	C>F		No	ClinGen Ensembl
CA2466584 rs768212516	112	T>I		No	ClinGen ExAC gnomAD
CA2466583 rs748873692	119	R>*		No	ClinGen ExAC TOPMed gnomAD
rs775020388 CA2466582	119	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775020388 CA353403940	119	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1434312389 CA353403934	120	Q>R		No	ClinGen gnomAD
CA75386109 rs774607213	122	S>F		No	ClinGen Ensembl
rs928053355 CA75386108	125	R>K		No	ClinGen TOPMed gnomAD
CA2466580 rs778242957	126	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2466579 rs778242957	126	V>M		No	ClinGen ExAC TOPMed gnomAD
rs758954719 COSM3392540 CA2466578	127	S>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2466577 rs748727336	128	L>M		No	ClinGen ExAC gnomAD
rs1307428102 CA353403860	130	C>Y		No	ClinGen gnomAD
rs1168515730 CA353403830	132	L>R		No	ClinGen TOPMed
rs755110148 CA2466575	137	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2466574 rs754031039	141	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2466573 rs143412376	142	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445372023 CA353403632	145	K>Q		No	ClinGen TOPMed
CA75385879 rs1045444244	149	Y>C		No	ClinGen TOPMed
CA353403439 rs749355716	156	F>I		No	ClinGen ExAC TOPMed gnomAD
rs749355716 CA2466551	156	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1163032851 CA353403415	157	R>*		No	ClinGen TOPMed
CA2466550 rs780220943	157	R>Q		No	ClinGen ExAC gnomAD
rs1430255909 CA353403365	160	R>*	Variant assessed as Somatic; 4.661e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756267563 CA353403353	160	R>L		No	ClinGen ExAC TOPMed gnomAD
rs756267563 CA2466549	160	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750715182 CA2466548	162	K>E		No	ClinGen ExAC gnomAD
rs376724773 CA2466547	163	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2466546 rs757058624	164	L>V		No	ClinGen ExAC TOPMed gnomAD
CA353403220 rs1213359536	168	Y>C		No	ClinGen gnomAD
rs751451008 CA2466545	169	F>C		No	ClinGen ExAC gnomAD
CA75385877 rs952046124	170	Q>*		No	ClinGen Ensembl
rs1486128319	172	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs867389653 CA75385644	177	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1481687048 CA353402939	178	K>R		No	ClinGen gnomAD
CA353402917 rs377529550	181	Y>*		No	ClinGen ESP
CA2466526 rs781414530	182	I>N		No	ClinGen ExAC gnomAD
rs1333248643 CA353402910	183	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1342734567 CA353402906	183	H>R		No	ClinGen TOPMed
rs1559820766 CA353402879	186	H>Q		No	ClinGen Ensembl
TCGA novel	186	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353402877 rs1399405853	187	T>A		No	ClinGen gnomAD
CA353402873 rs1295517763	187	T>I		No	ClinGen gnomAD
rs761942035	188	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA353402872 rs1270076241	188	V>M		No	ClinGen TOPMed
CA353402851 rs1347907331	191	Q>E		No	ClinGen Ensembl
CA2466522 rs751322402	192	I>V		No	ClinGen ExAC gnomAD
CA353402833 rs1396661544	193	A>V		No	ClinGen gnomAD
CA353402831 rs1459812124	194	P>A		No	ClinGen gnomAD
rs758251632 CA2466520	196	Y>*		No	ClinGen ExAC gnomAD
CA2466519 rs752743371	199	K>N		No	ClinGen ExAC gnomAD
TCGA novel	201	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764580298 CA2466518	202	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753496105 CA2466516	204	L>F		No	ClinGen ExAC gnomAD
rs1421216693 CA353402711	209	N>D		No	ClinGen TOPMed
CA2466496 rs755817380	209	N>T		No	ClinGen ExAC gnomAD
CA353402705 rs1194863972	210	D>N		No	ClinGen gnomAD
rs1446920893 CA353402682	213	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1286892075 CA353402681	213	R>Q		No	ClinGen TOPMed
rs750168427 CA2466495	215	P>L		No	ClinGen ExAC gnomAD
CA353402656 rs1483816253	217	P>S		No	ClinGen gnomAD
rs764299998 CA2466494	218	V>L		No	ClinGen ExAC gnomAD
CA353402647 rs1255764968	219	P>T		No	ClinGen TOPMed gnomAD
CA2466491 rs760083299	224	H>L		No	ClinGen ExAC gnomAD
CA2466490 rs760083299	224	H>P		No	ClinGen ExAC gnomAD
rs776676984 CA2466489	224	H>Q		No	ClinGen ExAC gnomAD
rs775820160 CA2466492	224	H>Y		No	ClinGen ExAC
rs771062625 CA2466488	228	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1310118866 CA353402584	229	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1303497250 CA353402576	230	V>L		No	ClinGen gnomAD
CA2466486 rs773492964	231	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2466473 rs765576525	234	V>L		No	ClinGen ExAC gnomAD
rs766384055 COSM3380667 CA2466470	235	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2466471 rs754343499	235	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2466468 rs576491077	239	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1237653314 CA353402502	240	H>D		No	ClinGen gnomAD
rs1435618318 CA353402472	243	P>L		No	ClinGen gnomAD
TCGA novel	243	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761993355 CA2466466	247	Q>H		No	ClinGen ExAC gnomAD
CA75385445 rs1037890991	248	I>M		No	ClinGen Ensembl
rs1575843769 CA353402440	249	V>M		No	ClinGen Ensembl
rs1333992186 CA353402432	250	Q>*		No	ClinGen gnomAD
rs1169238954 CA353402428	250	Q>H		No	ClinGen TOPMed
rs1575843762 CA353402408	253	Q>P		No	ClinGen Ensembl
rs1291228730 CA353402400	254	Q>R		No	ClinGen gnomAD
CA2466443 rs762864550	255	V>A		No	ClinGen ExAC gnomAD
CA2466441 rs769830974	258	N>D		No	ClinGen ExAC gnomAD
rs367745841 CA2466439	259	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA2466440 rs200906540	259	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs778481036 CA75385314	260	S>A		No	ClinGen Ensembl
rs1453312734 CA353402347	261	V>F		No	ClinGen gnomAD
CA2466438 rs768695674	262	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746610495 CA2466437	264	P>R		No	ClinGen ExAC TOPMed gnomAD
CA353402328 rs1195486923	264	P>S		No	ClinGen gnomAD
CA353402315 rs1213326046	266	V>A		No	ClinGen TOPMed gnomAD
CA353402310 rs372061625	267	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2466435 rs372061625	267	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780448433 CA2466433	269	V>M		No	ClinGen ExAC gnomAD
rs1370412945 CA353402282	271	I>S		No	ClinGen gnomAD
TCGA novel	273	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747859024 CA2466417	274	C>F		No	ClinGen ExAC TOPMed gnomAD
rs968535718 CA75384189	278	V>F		No	ClinGen Ensembl
rs780395312 CA2466416	279	F>I		No	ClinGen ExAC gnomAD
rs756441421 CA2466415	282	S>C		No	ClinGen ExAC TOPMed gnomAD
CA353401824 rs1430231530	284	M>T		No	ClinGen gnomAD
CA353401826 rs1168306606	284	M>V		No	ClinGen gnomAD
rs1458895360 CA353401817	285	L>I		No	ClinGen gnomAD
CA353401802 rs1377410233	287	E>*		No	ClinGen TOPMed
rs980682698 CA75384188	289	V>M		No	ClinGen TOPMed
rs754304602 CA2466411	296	V>A		No	ClinGen ExAC TOPMed gnomAD
rs752971233 CA2466408	297	V>A		No	ClinGen ExAC gnomAD
CA2466409 rs758687682	297	V>I		No	ClinGen ExAC gnomAD
rs1225964230 CA353401736	298	M>T		No	ClinGen gnomAD
rs765063618 CA2466407	299	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2466405 rs140503507	300	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs140503507 CA353401724	300	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766200349 CA2466404	301	S>L		No	ClinGen ExAC gnomAD
rs772698872 CA2466402	303	S>L		No	ClinGen ExAC gnomAD
CA353401666 rs1575828907	308	T>S		No	ClinGen Ensembl
rs747734384 CA2466400	309	V>I		No	ClinGen ExAC gnomAD
CA353401638 rs1163994058	310	L>S		No	ClinGen gnomAD
rs80246330 CA75384185	312	L>H		No	ClinGen Ensembl
CA2466398 rs770147939	313	V>A		No	ClinGen ExAC gnomAD
CA2466373 rs376053583	316	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs772235665 CA2466370	326	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1381478891 CA353401346	326	R>Q		No	ClinGen TOPMed gnomAD
CA353401302 rs1356963824	330	T>A		No	ClinGen gnomAD
CA353401281 rs1381003644	331	I>M		No	ClinGen gnomAD
rs1421746660 CA353401289	331	I>V		No	ClinGen gnomAD
rs866021583 CA75384120	332	H>Y		No	ClinGen TOPMed
CA2466368 rs143636565	334	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2466367 rs375661658	336	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218425397 CA353401150	340	T>A		No	ClinGen gnomAD
TCGA novel	340	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750313194 CA2466363	341	T>A		No	ClinGen ExAC gnomAD
rs1316160662 CA353401133	341	T>I		No	ClinGen Ensembl
rs138748140 CA2466362	342	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2466361 rs150271072	342	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs267599915 CA75384119	343	T>A		No	ClinGen TOPMed
rs369920181 CA2466359	344	Q>P		No	ClinGen ESP ExAC gnomAD
rs1226584235 CA353401090	345	A>V		No	ClinGen gnomAD
CA2466358 rs762443444	346	P>L		No	ClinGen ExAC gnomAD
CA353400155 rs1446080726	348	S>L		No	ClinGen gnomAD
CA75383700 rs926530127	350	I>K		No	ClinGen Ensembl
rs751519193 CA2466339	350	I>L		No	ClinGen ExAC
COSM3408829 rs926530127 CA353400146	350	I>T	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1334842387 CA353400139	351	L>*		No	ClinGen gnomAD
CA75383699 rs892655353	352	G>R		No	ClinGen TOPMed
CA2466335 rs752248452	353	V>E		No	ClinGen ExAC gnomAD
CA2466336 rs772248930	353	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2466332 rs773702457	357	F>V		No	ClinGen ExAC gnomAD
rs1179824805 CA353400093	358	F>L		No	ClinGen gnomAD
rs34959359	358	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs34959359	359	A>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1394252648 CA353400088	359	A>G		No	ClinGen TOPMed
rs1553739027 CA353400090	359	A>S		No	ClinGen Ensembl
CA2466330 rs768065650	361	T>I		No	ClinGen ExAC gnomAD
CA353400042 rs1456409051	366	P>T		No	ClinGen gnomAD
rs369833081 CA2466329	367	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1170356162 CA353400030	367	H>Q		No	ClinGen gnomAD
rs774938333 CA2466328	368	I>V		No	ClinGen ExAC gnomAD
TCGA novel	369	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375430769 CA75383697	369	I>F		No	ClinGen Ensembl
rs1333970510 CA353400003	370	R>L		No	ClinGen TOPMed gnomAD
CA353400006 rs1333970510	370	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs576553515 CA2466327	371	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs749418423 CA2466326	373	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775474754 CA2466325	376	P>L		No	ClinGen ExAC gnomAD
CA353399904 rs1441519165	377	T>A		No	ClinGen TOPMed gnomAD
CA75383696 rs972207350	377	T>I		No	ClinGen gnomAD
CA353330277 rs1330047841	381	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs561255155 CA353330287	381	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs561255155 CA75016806	381	P>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA353330245 rs1350807450	383	Q>*		No	ClinGen gnomAD
CA353330209 rs1186307244	385	K>E		No	ClinGen TOPMed
CA2466312 rs762264303	387	K>E		No	ClinGen ExAC gnomAD
CA2466311 rs774681247	391	N>K		No	ClinGen ExAC gnomAD
rs1381634944 CA353330090	392	L>P		No	ClinGen gnomAD
CA2466309 rs763421217	398	K>Q		No	ClinGen ExAC gnomAD
rs1456841666 CA353329968	399	P>L		No	ClinGen TOPMed
rs1433632436 CA353329802	406	K>R		No	ClinGen gnomAD
CA2466296 rs753496155	411	R>T		No	ClinGen ExAC TOPMed gnomAD
rs539348479 CA75016762	412	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	414	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353329479 rs1258714169	420	Q>*		No	ClinGen TOPMed
rs1304017901 CA353329266	422	G>D		No	ClinGen gnomAD
rs1353815159 CA353329191	424	Q>R		No	ClinGen gnomAD
CA75016380 rs973256190	427	R>C		No	ClinGen TOPMed gnomAD
COSM192740 rs748884235 CA2466285	427	R>H	Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1254188424 CA353328864	435	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	437	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375894672 CA75016364	437	R>P		No	ClinGen ESP TOPMed
rs773053016 CA2466283	438	R>C		No	ClinGen ExAC gnomAD
CA2466282 rs771772317 COSM192739	438	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2466281 rs145686957	439	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	441	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558113637 CA2466279	443	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353328607 COSM296574 rs1407911738	446	S>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs538273636 CA75016347	447	F>S		No	ClinGen 1000Genomes
TCGA novel	449	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	450	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353328480 rs1338285827	451	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1245044273 CA353327807	454	Y>N		No	ClinGen gnomAD
CA2466265 rs140676537	455	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2466266 rs760881976	455	V>M		No	ClinGen ExAC
rs767299005 CA2466264	458	L>*		No	ClinGen ExAC gnomAD
rs774328230 CA2466262	459	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1339241805 CA353327643	462	Q>E		No	ClinGen TOPMed
CA353327616 rs1384906699	463	K>E		No	ClinGen gnomAD
CA353327613 rs1384906699	463	K>Q		No	ClinGen gnomAD
CA2466261 rs768692749	463	K>R		No	ClinGen ExAC gnomAD
rs749298232 CA2466260	464	S>C		No	ClinGen ExAC gnomAD
TCGA novel	464	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	470	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2466245 rs774274976	470	S>I		No	ClinGen ExAC gnomAD
CA2466244 rs774274976	470	S>N		No	ClinGen ExAC gnomAD
CA2466243 rs764049748	473	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	478	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2466240 rs769305132	479	P>L		No	ClinGen ExAC gnomAD
rs769305132 CA75015675	479	P>Q		No	ClinGen ExAC gnomAD
CA2466241 rs775311147	479	P>S		No	ClinGen ExAC gnomAD
rs1172571319 CA353326964	483	M>I		No	ClinGen gnomAD
rs1379743707 CA353326884	485	T>P		No	ClinGen gnomAD
TCGA novel	489	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364139018 CA353326632	495	S>F		No	ClinGen TOPMed
CA2466235 rs779180348	500	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749756858 CA2466233	501	W>*		No	ClinGen ExAC gnomAD
rs1198668028 CA353326445	502	I>V		No	ClinGen gnomAD
rs1239016324 CA353326376	505	Y>H		No	ClinGen gnomAD
rs750447727 COSM1424902 CA2466230	506	R>Q	Variant assessed as Somatic; 9.259e-05 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs183284952 CA2466231	506	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353326182 rs1338033370	510	K>T		No	ClinGen gnomAD
CA353326166 rs1446696979	511	S>C		No	ClinGen gnomAD
CA353326164 rs1446696979	511	S>Y		No	ClinGen gnomAD
rs1398567377 CA353326156	512	P>S		No	ClinGen gnomAD
TCGA novel	513	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770188496 CA2466211	515	D>G		No	ClinGen ExAC gnomAD
CA353326096 rs1425413004	516	G>R		No	ClinGen TOPMed
rs746455028 CA2466210	518	F>L		No	ClinGen ExAC gnomAD
rs1575809845 CA353326068	518	F>V		No	ClinGen Ensembl
CA353326050 rs1463726565	519	K>E		No	ClinGen TOPMed
CA353326023 rs1473524522	520	T>I		No	ClinGen gnomAD
CA2466209 rs781356154	521	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1243213146 CA353326018	521	R>W		No	ClinGen gnomAD
rs1399988360 CA353325990	523	K>R		No	ClinGen TOPMed
CA353325954 rs1437582979	525	M>I		No	ClinGen TOPMed
CA2466207 rs751790233	527	Q>P		No	ClinGen ExAC gnomAD
CA2466206 rs778108565	530	E>K		No	ClinGen ExAC gnomAD
CA353325862 rs1457488866	532	L>V		No	ClinGen Ensembl
CA2466205 rs758694673	533	H>R		No	ClinGen ExAC gnomAD
CA2466204 rs375702485	534	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353325807 rs1240081124	536	A>S		No	ClinGen gnomAD
rs1300356554 CA353325801	536	A>V		No	ClinGen TOPMed gnomAD
rs759320677 CA2466202	537	L>R		No	ClinGen ExAC gnomAD
rs1443443329 CA353325783	538	C>G		No	ClinGen gnomAD
CA75015558 rs1029349654	538	C>Y		No	ClinGen TOPMed
CA353325545 rs1217150037	542	L>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1037439618 CA75015215	543	L>F		No	ClinGen TOPMed
rs1195446301 CA353325519	543	L>R		No	ClinGen gnomAD
CA353325506 rs1559801048	544	L>V		No	ClinGen Ensembl
CA353325473 rs1219696352	545	W>*		No	ClinGen TOPMed
rs372013564 CA2466176	548	K>E		No	ClinGen ESP ExAC gnomAD
rs767081603 CA2466175	549	H>Y		No	ClinGen ExAC gnomAD
CA353325345 rs1225776041	550	T>R	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	551	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353325327 rs1277245154	551	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	552	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	554	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1214536165 CA353325245	554	T>I		No	ClinGen TOPMed
rs774068379 CA2466173	555	V>A		No	ClinGen ExAC TOPMed gnomAD
rs759912214 CA2466171	557	L>P		No	ClinGen ExAC gnomAD
CA353324848 rs1411716389	567	Q>E		No	ClinGen gnomAD
CA2466152 rs762751793	568	A>V		No	ClinGen ExAC gnomAD
rs1237982210 CA353324806	569	D>A		No	ClinGen gnomAD
CA2466150 rs145204368 COSM308391	570	R>P	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145204368 CA2466151	570	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761202880 CA2466149	571	E>V		No	ClinGen ExAC gnomAD
rs1249169643 CA353324742	572	H>Q		No	ClinGen TOPMed
CA2466146 rs772003329	577	P>L		No	ClinGen ExAC gnomAD
CA2466145 rs748231125	580	M>T		No	ClinGen ExAC gnomAD
CA75015032 rs966525539	581	E>V		No	ClinGen TOPMed gnomAD
CA2466144 rs774346883	584	R>G		No	ClinGen ExAC gnomAD
CA2466143 rs370442425	584	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774346883 CA353324627	584	R>W		No	ClinGen ExAC gnomAD
rs1426700522 CA353324597	586	H>Y		No	ClinGen TOPMed
CA75015022 rs985220033	587	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA75015019 rs751663781	588	D>E		No	ClinGen TOPMed gnomAD
CA353324554 rs1350524408	588	D>G		No	ClinGen gnomAD
CA2466140 rs755916953	592	L>S		No	ClinGen ExAC gnomAD
CA2466139 rs185775349	593	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs781222985 CA353324443	594	L>V		No	ClinGen ExAC gnomAD
rs1177293015 CA353324391	595	P>L		No	ClinGen gnomAD
rs764217541 CA75015006	596	E>D		No	ClinGen Ensembl
CA2466137 rs757189097	596	E>V		No	ClinGen ExAC gnomAD
CA2466136 rs751065476	599	Q>*		No	ClinGen ExAC gnomAD
rs758056981 CA2466134	601	I>M		No	ClinGen ExAC gnomAD
rs777213921 CA2466135	601	I>V		No	ClinGen ExAC gnomAD
rs1355687921 CA353324163	603	L>F		No	ClinGen TOPMed
rs150849318 CA2466132	605	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2466131 rs150849318	605	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA353324069 rs1241094757	607	M>K		No	ClinGen gnomAD
rs1395893399 CA353324026	608	T>I		No	ClinGen TOPMed
rs1336134950 CA353324016	609	T>G		No	ClinGen gnomAD
rs1336134950 CA353324018	609	T>R		No	ClinGen gnomAD

No associated diseases with Q8IWF6

2 regional properties for Q8IWF6

Type	Name	Position	InterPro Accession
domain	AVL9/DENND6 domain	64 - 200	IPR018307
domain	Tripartite DENN domain	63 - 528	IPR037516

Functions

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

4 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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.

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.

1 GO annotations of biological process

Name	Definition
positive regulation of cell-cell adhesion mediated by cadherin	Any process that activates or increases the frequency, rate or extent of cell-cell adhesion mediated by cadherin.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5F3L4	DENND6A	Protein DENND6A	Gallus gallus (Chicken)	PR
Q8NEG7	DENND6B	Protein DENND6B	Homo sapiens (Human)	PR
Q9D9V7	Dennd6b	Protein DENND6B	Mus musculus (Mouse)	PR
Q8BH65	Dennd6a	Protein DENND6A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALRGPAGLG	PGSRRPLDEA	VAGAEGREAP	ALVAAGGAPE	DDEEDDGRGR	GLLRWDSFSA
70	80	90	100	110	120
WLHCVCVVGF	DLELGQAVEV	IYPQHSKLTD	REKTNICYLS	FPDSNSGCLG	DTQFCFRFRQ
130	140	150	160	170	180
SSGRRVSLHC	LLDQFDKDLP	VYLKKDPAYF	YGYVYFRQVR	DKTLKRGYFQ	KSLVLISKLP
190	200	210	220	230	240
YIHFFHTVLK	QIAPEYFEKN	EPYLEAACND	VDRWPAPVPG	KTLHLPIMGV	VMKVRIPTCH
250	260	270	280	290	300
DKPGTTQIVQ	LTQQVDTNIS	VILPTVHEVD	IFRCFCPVFL	HSQMLWELVL	LGEPLVVMAP
310	320	330	340	350	360
SPSESSETVL	ALVNCISPLK	YFSDFRPYFT	IHDSEFKEYT	TRTQAPPSVI	LGVTNPFFAK
370	380	390	400	410	420
TLQHWPHIIR	IGDLKPTGEI	PKQVKVKKLK	NLKTLDSKPG	VYTSYKPYLN	RDEEIIKQLQ
430	440	450	460	470	480
KGVQQKRPSE	AQSVILRRYF	LELTQSFIIP	LERYVASLMP	LQKSISPWKS	PPQLRQFLPE
490	500	510	520	530	540
EFMKTLEKTG	PQLTSRIKGD	WIGLYRHFLK	SPNFDGWFKT	RRKEMTQKLE	ALHLEALCEE
550	560	570	580	590	600
DLLLWIQKHT	EVETVDLVLK	LKNKLLQADR	EHLPVKPDTM	EKLRTHIDAI	ILALPEDLQG

ILLKTGMT