AiPD: Autoinhibited Protein Database

Q7Z6J6

Gene name	FRMD5
Protein name	FERM domain-containing protein 5
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84978
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-44 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-44 (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 Q7Z6J6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z6J6-F1	Predicted				AlphaFoldDB

388 variants for Q7Z6J6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087746	114	F>L	NEDEMA; unknown pathological significance [UniProt]	Yes	UniProt
VAR_087747	349	S>R	NEDEMA; unknown pathological significance [UniProt]	Yes	UniProt
VAR_087748	351	S>G	NEDEMA [UniProt]	Yes	UniProt
VAR_087749	351	S>R	NEDEMA [UniProt]	Yes	UniProt
VAR_087750	352	C>R	NEDEMA [UniProt]	Yes	UniProt
VAR_087751	354	S>P	NEDEMA; unknown pathological significance [UniProt]	Yes	UniProt
CA270076221 VAR_087752 rs1006096376	546	Y>C	NEDEMA; unknown pathological significance [UniProt]	Yes	ClinGen TOPMed UniProt
rs1189536627 CA392290519	3	S>N		No	ClinGen gnomAD
rs1566997789 CA392290514	4	R>G		No	ClinGen Ensembl
rs1455348607 CA392290507	5	L>M		No	ClinGen TOPMed
CA392290494 rs1273589411	6	M>I		No	ClinGen gnomAD
rs756973569 CA7532776	7	S>R		No	ClinGen ExAC TOPMed gnomAD
CA392290483 rs1341258258	8	G>R		No	ClinGen gnomAD
TCGA novel	10	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392290462 rs1451358873	11	R>G		No	ClinGen TOPMed
CA392290459 rs1339890274	11	R>K		No	ClinGen gnomAD
rs1313541515 CA392290454	12	S>G		No	ClinGen gnomAD
CA7532774 rs777598897	12	S>N		No	ClinGen ExAC gnomAD
rs1348892173 CA392290449	12	S>R		No	ClinGen gnomAD
CA392290443 rs1307717602	14	E>K		No	ClinGen gnomAD
rs1430796381 CA392290431	15	R>H		No	ClinGen gnomAD
rs1161912890 CA392290422	16	E>D		No	ClinGen gnomAD
CA269516027 rs764967512	18	S>G		No	ClinGen Ensembl
rs1457843857 CA392290403	19	C>Y		No	ClinGen gnomAD
CA7532773 rs755914658	20	T>I		No	ClinGen ExAC gnomAD
CA392290390 rs1448453853	21	V>A		No	ClinGen TOPMed
rs867402123 CA392290392	21	V>L		No	ClinGen gnomAD
CA269516026 rs867402123	21	V>M		No	ClinGen gnomAD
CA269516024 rs867289433	22	R>W		No	ClinGen gnomAD
rs752561829 CA7532772	25	D>N		No	ClinGen ExAC gnomAD
rs1566997636 CA392290363	26	D>G		No	ClinGen Ensembl
rs1265018258 CA392290365	26	D>Y		No	ClinGen gnomAD
rs767467954 CA7532771	27	S>C		No	ClinGen ExAC gnomAD
CA392290331 rs1357007486	30	T>I		No	ClinGen TOPMed gnomAD
rs762923310 CA7532770	32	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA269516023 rs894050041	34	Q>E		No	ClinGen TOPMed
CA7532746 rs750459859	37	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1299688585 COSM3744621 CA392201443	40	Q>H	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs370505804 CA270066907	42	L>V		No	ClinGen TOPMed gnomAD
rs774148383 CA270066865	45	L>F		No	ClinGen gnomAD
TCGA novel	46	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392201382 rs1217194181	49	H>R		No	ClinGen TOPMed
CA7532743 rs754074986	56	D>G		No	ClinGen ExAC gnomAD
rs761096757 CA7532741	61	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7532740 rs147823848	61	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs761096757 CA7532742	61	R>S		No	ClinGen ExAC gnomAD
CA270066812 rs369941391	63	V>I		No	ClinGen ESP
CA392201118 rs1284741530	65	P>T		No	ClinGen gnomAD
rs1246627415 CA392201049	69	R>Q		No	ClinGen gnomAD
CA392201050 COSM962090 rs1487739513	69	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7532723 rs756471229	73	E>G		No	ClinGen ExAC gnomAD
CA270063196 rs948553559	74	F>L		No	ClinGen Ensembl
rs1391997810 CA392200165	77	S>C		No	ClinGen TOPMed gnomAD
CA392200129 rs1595519581	79	V>G		No	ClinGen Ensembl
CA392199889 rs1355026467	87	P>S		No	ClinGen TOPMed gnomAD
CA270062930 rs941804240	88	F>L		No	ClinGen TOPMed
CA392199859 rs1416994052	89	T>S		No	ClinGen TOPMed gnomAD
CA7532702 rs767661588	89	T>S		No	ClinGen ExAC gnomAD
COSM3816165 CA270062909 rs907802743	90	M>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	91	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1048093627 CA270062906	93	R>C		No	ClinGen TOPMed gnomAD
COSM1678422 CA7532701 rs755317411	93	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392199774 rs755317411	93	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766869133 CA392199648	99	A>S		No	ClinGen ExAC gnomAD
rs766869133 CA7532699	99	A>T		No	ClinGen ExAC gnomAD
CA392199624 rs1595519147	100	D>A		No	ClinGen Ensembl
CA7532698 rs763513751	100	D>E		No	ClinGen ExAC TOPMed gnomAD
rs777634983 CA7532697	101	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1474625012 CA392199574	103	A>G		No	ClinGen TOPMed gnomAD
CA392199564 rs1189713581	104	L>V		No	ClinGen gnomAD
CA270062843 rs959457746	106	E>K		No	ClinGen TOPMed gnomAD
CA7532695 rs755105643	109	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7532655 rs760237072	110	R>S		No	ClinGen ExAC gnomAD
rs767296718 CA7532653	119	R>M		No	ClinGen ExAC
rs1406576559 CA392198354	122	Y>S		No	ClinGen TOPMed
CA270056919 rs1036549891	123	H>D		No	ClinGen Ensembl
rs1213329674 CA392198310	125	R>*		No	ClinGen gnomAD
CA392198308 rs1281679162	125	R>Q		No	ClinGen gnomAD
CA392198219 rs1220662342	130	T>A		No	ClinGen gnomAD
rs759380577 COSM962089 CA7532652	131	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA392198146 rs1595507749	133	A>V		No	ClinGen Ensembl
TCGA novel	134	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311940322 CA392198098	135	L>F		No	ClinGen gnomAD
rs1344122592 CA392198066	137	A>V		No	ClinGen TOPMed
TCGA novel	139	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392198007 rs1418352215	140	I>V		No	ClinGen TOPMed
rs568248384	143	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	143	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1252791 rs1175812834 CA392197008	143	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs375697971 CA7532629	145	I>T		No	ClinGen ESP ExAC gnomAD
CA7532628 rs760715241	146	G>E		No	ClinGen ExAC gnomAD
TCGA novel	146	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3981519 rs1303234230 CA392196963	147	D>N	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA270054554 rs980860337	155	E>K		No	ClinGen TOPMed
rs772266766 CA7532626	156	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392196832 rs1272017729	156	G>S		No	ClinGen gnomAD
rs772266766 CA392196827	156	G>V		No	ClinGen ExAC TOPMed gnomAD
CA270054550 rs569540013	158	S>N		No	ClinGen gnomAD
CA392196748 rs1595503222	161	F>L		No	ClinGen Ensembl
rs749681148 CA7532622	161	F>S		No	ClinGen ExAC gnomAD
rs557689722 CA270054540	164	F>Y		No	ClinGen Ensembl
CA392196694 rs1438640766	165	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392196687 rs1392315445	166	K>Q		No	ClinGen gnomAD
rs142231537 CA7532621	169	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756682476 CA7532620	170	K>N		No	ClinGen ExAC gnomAD
CA7532618 rs780794171	173	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7532617 rs754543248	175	I>T		No	ClinGen ExAC gnomAD
rs751221501 CA7532616	176	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392196535 rs1252969370	177	E>K		No	ClinGen TOPMed gnomAD
rs1029898743 CA270054487	179	H>Q		No	ClinGen TOPMed
CA392196505 rs1482158804	179	H>Y		No	ClinGen TOPMed
rs139260307 RCV000905778 CA7532614	181	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392196126 rs1300345972	187	T>I		No	ClinGen gnomAD
rs1375229508 CA392196018	196	L>V		No	ClinGen gnomAD
TCGA novel	199	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7532587 rs753731248	201	T>S		No	ClinGen ExAC gnomAD
rs1169097204 CA392195900	204	T>K		No	ClinGen gnomAD
rs1185432529 CA392195870	206	G>A		No	ClinGen gnomAD
CA7532583 rs766503827	207	V>M		No	ClinGen ExAC gnomAD
rs1479602088 CA392195810	211	P>S		No	ClinGen gnomAD
CA392194579 rs1208359105	214	D>N		No	ClinGen gnomAD
CA7532563 COSM962087 rs371288449	215	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1595488045 CA392194520	218	N>S		No	ClinGen Ensembl
rs939720972 CA270046706	219	A>G		No	ClinGen TOPMed
rs939720972 CA270046691	219	A>V		No	ClinGen TOPMed
rs777206178 COSM962085 CA7532561	221	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	224	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7532560 rs764687720	227	F>L		No	ClinGen ExAC gnomAD
TCGA novel	227	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363026209 CA392194372	230	V>A		No	ClinGen gnomAD
rs761189645 CA7532559	230	V>I		No	ClinGen ExAC
CA7532557 rs771568540	234	G>A		No	ClinGen ExAC TOPMed gnomAD
CA392194323 rs771568540	234	G>E		No	ClinGen ExAC TOPMed gnomAD
rs745388181 CA7532556	236	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7532555 rs112105930	237	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392194255 rs1211860945	239	H>Q		No	ClinGen gnomAD
TCGA novel	240	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353752381 CA392194248	240	F>V		No	ClinGen TOPMed
rs1384815473 CA392193508	247	T>A		No	ClinGen TOPMed
CA392193496 rs1327722337	247	T>I		No	ClinGen TOPMed
CA7532536 rs748879837 COSM1721967	253	G>E	NS [Cosmic]	No	ClinGen cosmic curated ExAC
rs749767524 CA270044483	254	K>Q		No	ClinGen Ensembl
CA392193377 rs1411945203	254	K>R		No	ClinGen TOPMed gnomAD
CA7532535 rs772884935	257	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	258	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392193285 rs1401613331	259	Y>S		No	ClinGen TOPMed gnomAD
COSM3401758 rs373951833 CA7532532	260	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7532533 rs373951833	260	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392193240 rs1460556787	261	S>N		No	ClinGen gnomAD
rs1435286059 CA392193186	264	E>K		No	ClinGen gnomAD
rs762475213 CA7532518	265	E>Q		No	ClinGen ExAC gnomAD
rs373567194 CA7532516	266	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7532517 rs772829990	266	K>T		No	ClinGen ExAC gnomAD
CA7532515 rs139890415	267	K>N		No	ClinGen ESP ExAC gnomAD
rs776351346 CA7532514	270	L>H		No	ClinGen ExAC gnomAD
CA270044038 rs200697450	271	T>I		No	ClinGen ExAC gnomAD
CA7532513 rs200697450	271	T>K		No	ClinGen ExAC gnomAD
CA7532512 rs528059360	273	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs191718161 CA7532511	274	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1200093582 CA392192853	279	A>V		No	ClinGen gnomAD
rs1228670802 CA392192811	283	L>V		No	ClinGen gnomAD
CA7532507 rs756357682	286	C>R		No	ClinGen ExAC gnomAD
COSM962082 rs781351864 CA7532505	289	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	292	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7532484 rs747415847	297	E>G		No	ClinGen ExAC gnomAD
CA392192338 COSM962081 rs1236617686	297	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs780534350 CA7532483	299	S>A		No	ClinGen ExAC
rs1004186250 CA392192297	300	S>C		No	ClinGen TOPMed
CA270042399 rs1004186250	300	S>R		No	ClinGen TOPMed
rs1002361004 CA270042378	301	Q>H		No	ClinGen gnomAD
CA7532482 rs758963165	302	V>L		No	ClinGen ExAC gnomAD
rs750956577 CA7532481	303	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766531920 CA7532480	303	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766531920 CA392192257	303	R>L		No	ClinGen ExAC TOPMed gnomAD
CA392192248 rs1191376572	304	T>R		No	ClinGen gnomAD
CA270042360 rs548976187	309	N>S		No	ClinGen 1000Genomes
TCGA novel	311	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270042358 rs758670067	313	K>R		No	ClinGen Ensembl
rs1230645823 CA392192104	315	S>R		No	ClinGen TOPMed gnomAD
CA7532475 rs775487750	316	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs535767161 COSM1373094 CA7532477	316	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs767545864 CA7532474	318	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs906897784 CA392192077	318	R>L		No	ClinGen TOPMed
CA270042335 rs906897784	318	R>Q		No	ClinGen TOPMed
CA392192072 rs1345755132	319	Y>H		No	ClinGen gnomAD
CA392191403 rs940663892	322	R>P		No	ClinGen TOPMed gnomAD
CA270041765 rs940663892	322	R>Q		No	ClinGen TOPMed gnomAD
CA392191333 rs1280460823	327	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1223816782 CA392191309	328	M>I		No	ClinGen TOPMed
CA392191316 rs1323017000	328	M>K		No	ClinGen TOPMed
rs1402106610 CA392191268	331	S>C		No	ClinGen gnomAD
rs763830882 CA7532456	332	A>V		No	ClinGen ExAC gnomAD
rs755885560 CA7532455	333	K>E		No	ClinGen ExAC gnomAD
rs759404040 CA7532452	336	R>Q		No	ClinGen ExAC gnomAD
rs767353884 CA7532453	336	R>W		No	ClinGen ExAC gnomAD
CA270041691 rs113310192	337	E>G		No	ClinGen Ensembl
rs774105837 CA7532451	339	P>L		No	ClinGen ExAC gnomAD
rs1423086342 CA392191143	339	P>T		No	ClinGen gnomAD
rs1484248878 CA392191126	340	E>Q		No	ClinGen gnomAD
CA7532416 rs747708913	345	G>R		No	ClinGen ExAC gnomAD
rs371056906 CA270040968	350	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7532414 rs371056906	350	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs568197987 COSM1749165 CA7532415	350	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7532413 rs751184580	354	S>T		No	ClinGen ExAC gnomAD
CA7532411 rs376593528	360	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371269803 CA7532408 COSM1207545	364	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1050402603 CA270040940	368	R>C		No	ClinGen TOPMed gnomAD
CA7532407 rs375391381	368	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7532385 rs367941749	384	R>Q		No	ClinGen ESP ExAC gnomAD
rs150697882 CA7532386 COSM3690412	384	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1423245695 CA392203535	385	D>E		No	ClinGen gnomAD
CA7532383 rs765710915	386	S>N		No	ClinGen ExAC gnomAD
CA392203526 rs1261525694	387	A>T		No	ClinGen gnomAD
CA392203508 rs1203597307	389	S>F		No	ClinGen gnomAD
rs1595465873 CA392203512	389	S>P		No	ClinGen Ensembl
CA392203502 rs1484332811	390	T>I		No	ClinGen gnomAD
CA392203495 rs1479047189	392	V>M		No	ClinGen gnomAD
rs762345639 CA7532382	393	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs148081959 CA7532380	393	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148081959 CA7532381	393	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392203470 rs1294193798	394	S>F		No	ClinGen Ensembl
CA7532379 rs746552178	395	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7532378 rs775181364	395	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1196249588 CA392203445	397	H>Y		No	ClinGen gnomAD
rs372366104 CA7532376	398	G>R		No	ClinGen ESP ExAC gnomAD
CA7532375 rs368308860	399	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA392203408 rs1595465784	400	T>P		No	ClinGen Ensembl
rs1024850611 CA270077057	405	V>A		No	ClinGen Ensembl
CA392203343 rs147048964	405	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147048964 CA7532372	405	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755061695 CA7532371	406	R>K		No	ClinGen ExAC gnomAD
CA270077027 rs1022761468	408	S>I		No	ClinGen TOPMed
CA7532369 rs115185530	409	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115185530 CA7532368	409	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751630464 CA7532370	409	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1171660885 CA392203293	410	T>A		No	ClinGen gnomAD
rs897764297 CA270077001	410	T>R		No	ClinGen Ensembl
CA392203267 rs1163142159	412	S>G		No	ClinGen gnomAD
rs1473392124 CA392203241	413	N>K		No	ClinGen gnomAD
CA7532364 rs777175963	414	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	415	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764553573 CA392203219	415	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764553573 CA7532363	415	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1238336263 CA392203212	416	V>A		No	ClinGen gnomAD
CA392203218 rs1456982902	416	V>I		No	ClinGen gnomAD
rs1200157514 CA392203210	417	A>T		No	ClinGen gnomAD
CA7532362 rs760231276	418	V>G		No	ClinGen ExAC TOPMed gnomAD
rs201876553 CA7532361	419	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201876553 CA7532360	419	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759120521 CA7532359	420	A>S		No	ClinGen ExAC gnomAD
CA7532357 rs558094412	422	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs749083799 CA7532356	423	A>T		No	ClinGen ExAC gnomAD
CA7532355 rs777734756	424	Y>C		No	ClinGen ExAC gnomAD
rs1005813085 CA270076894	424	Y>H		No	ClinGen TOPMed
CA7532354 rs769686111	425	S>G		No	ClinGen ExAC gnomAD
CA7532353 rs748131186	425	S>I		No	ClinGen ExAC gnomAD
rs758583807 CA7532351	427	A>T		No	ClinGen ExAC gnomAD
rs750626326 CA7532350	427	A>V		No	ClinGen ExAC gnomAD
CA7532346 rs764653203	430	V>A		No	ClinGen ExAC gnomAD
rs754227679 CA7532348	430	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7532347 rs754227679	430	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7532343 rs572548037	432	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	432	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773969717 CA7532341	433	T>N		No	ClinGen ExAC gnomAD
rs367590368 CA7532340	434	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239369826 CA392203111	434	P>S		No	ClinGen gnomAD
CA7532339 rs772937981	435	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7532338 rs772937981	435	V>M		No	ClinGen ExAC TOPMed gnomAD
CA270076726 rs548249006	436	A>S		No	ClinGen TOPMed gnomAD
rs747997331 CA7532335	438	H>Y		No	ClinGen ExAC gnomAD
rs1405943909 CA392203080	439	S>T		No	ClinGen TOPMed
rs1595465401 CA392203068	441	E>G		No	ClinGen Ensembl
CA392203071 rs772259917	441	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7532333 rs772259917	441	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1367861484 CA392203062	442	L>P		No	ClinGen TOPMed gnomAD
rs931771236 CA270076668	443	M>I		No	ClinGen TOPMed gnomAD
CA392203049 rs1392797392	444	L>S		No	ClinGen gnomAD
rs779277557 CA7532331	445	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7532330 rs757482386	446	S>C		No	ClinGen ExAC gnomAD
rs536486548 CA7532328	447	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7532329 rs754100527 COSM123251	447	R>W	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7532327 rs756530820	450	N>S		No	ClinGen ExAC TOPMed gnomAD
CA392202998 rs1224930878	452	A>V		No	ClinGen TOPMed
CA392202980 rs1215674483	455	S>N		No	ClinGen gnomAD
CA392202973 rs1488561559	456	I>V		No	ClinGen gnomAD
CA392202936 rs1218030159	461	E>K		No	ClinGen gnomAD
CA392202913 rs1310520062	464	A>T		No	ClinGen gnomAD
CA7532323 rs759014211	464	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7532321 rs114372958	465	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs537307351 CA392202898	466	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7532320 rs537307351	466	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs772948960 CA7532319	467	P>A		No	ClinGen ExAC TOPMed gnomAD
rs764894387 CA7532318	467	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772948960 CA392202896	467	P>S		No	ClinGen ExAC TOPMed gnomAD
rs988406897 CA270076578	468	T>N		No	ClinGen Ensembl
rs761718941 CA7532317	469	A>G		No	ClinGen ExAC gnomAD
CA7532316 rs200253000	470	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7532315 rs768782827	473	E>Q		No	ClinGen ExAC gnomAD
CA392202852 rs1421079550	474	A>D		No	ClinGen gnomAD
rs1192645569 CA392202847	475	L>F		No	ClinGen gnomAD
rs745934242 CA7532314	475	L>P		No	ClinGen ExAC TOPMed gnomAD
CA270076551 rs774518297	476	G>A		No	ClinGen ExAC gnomAD
CA7532313 rs774518297	476	G>E		No	ClinGen ExAC gnomAD
rs1177793152	477	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392202834 rs1408628896	478	E>K		No	ClinGen TOPMed
CA392202833 rs1408628896	478	E>Q		No	ClinGen TOPMed
rs777514929 CA270076550	479	L>M		No	ClinGen Ensembl
CA7532312 rs771043512	481	A>T		No	ClinGen ExAC gnomAD
CA392202810 rs1595465071	482	L>M		No	ClinGen Ensembl
CA7532311 rs749427036	483	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7532310 rs374257897	484	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392202792 rs1377099905	484	Q>H		No	ClinGen TOPMed
rs755953347 CA270076530	485	G>R		No	ClinGen Ensembl
CA392202784 rs1319053668	486	H>Y		No	ClinGen gnomAD
rs748550765 CA7532308	488	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748550765 CA392202769	488	G>W		No	ClinGen ExAC TOPMed gnomAD
rs551307319 CA7532305 COSM1562914	490	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA392202749 rs1210513640	491	E>G		No	ClinGen gnomAD
CA7532304 COSM459022 rs765767175	491	E>K	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1465891963 CA392202737	493	Q>K		No	ClinGen gnomAD
CA392202729 rs201318014	494	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7532302 rs201318014	494	V>M		No	ClinGen ExAC TOPMed gnomAD
CA392202718 rs1423142681	495	N>K		No	ClinGen gnomAD
CA7532300 rs764983498	498	V>F		No	ClinGen ExAC gnomAD
CA392202695 rs761699700	499	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1236523599 CA392202687	500	S>N		No	ClinGen gnomAD
CA392202674 rs1205982842	502	L>F		No	ClinGen gnomAD
CA7532297 rs763998751	503	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7532296 rs145058047	503	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA392202636 rs1243138958	508	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1725976 CA392202635 rs1314144098	509	M>L	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1314144098 CA392202634	509	M>V		No	ClinGen gnomAD
CA392202622 rs1247443616	510	G>E		No	ClinGen gnomAD
rs1567200371 CA392202599	514	V>L		No	ClinGen Ensembl
rs770119474 CA7532291	516	L>H		No	ClinGen ExAC gnomAD
rs748497726 CA7532290	517	L>P		No	ClinGen ExAC TOPMed gnomAD
rs755366999 CA7532288	523	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7532289 rs755366999	523	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1595464778 CA392202542	524	E>K		No	ClinGen Ensembl
rs1178155029 CA392202520	527	L>F		No	ClinGen gnomAD
TCGA novel	527	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392202514 rs1595464756	528	D>N		No	ClinGen Ensembl
TCGA novel	528	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7532285 rs757817954	529	I>T		No	ClinGen ExAC TOPMed gnomAD
CA270076295 rs915808887	529	I>V		No	ClinGen TOPMed
rs750019572 CA7532284	531	F>I		No	ClinGen ExAC TOPMed gnomAD
rs780212034 CA270076289	532	F>L		No	ClinGen TOPMed
CA7532283 rs764786323	533	R>C		No	ClinGen ExAC TOPMed gnomAD
rs548650879 CA7532282	533	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392202481 rs764786323	533	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1225393011 CA392202474	534	D>A		No	ClinGen gnomAD
rs1350810558 CA392202464	535	I>S		No	ClinGen gnomAD
rs1239197787 CA392202462	536	R>G		No	ClinGen gnomAD
CA7532281 rs753549302	536	R>H		No	ClinGen ExAC gnomAD
rs763937333 CA392202446	538	T>I		No	ClinGen ExAC gnomAD
CA7532280 rs763937333	538	T>S		No	ClinGen ExAC gnomAD
CA392202435 rs1304838268	540	E>A		No	ClinGen gnomAD
CA7532277 rs376269021	540	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs752551012 CA7532278	540	E>K		No	ClinGen ExAC
CA7532276 rs762935838	541	F>S		No	ClinGen ExAC gnomAD
CA392202326 rs1467223080	547	Q>R		No	ClinGen TOPMed
CA392202296 rs1365683744	550	C>G		No	ClinGen gnomAD
rs1197039442 CA392202282	551	P>L		No	ClinGen gnomAD
CA392202289 rs1215587973	551	P>T		No	ClinGen TOPMed
CA392202276 rs1452045225	552	L>F		No	ClinGen TOPMed
CA7532273 rs761955840	553	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7532274 rs769875158	553	R>W		No	ClinGen ExAC gnomAD
CA270076161 rs201700276	554	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201700276 CA7532272	554	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392202217 rs1286001520	556	F>C		No	ClinGen gnomAD
rs1595464533 CA392202211	556	F>L		No	ClinGen Ensembl
CA392202206 rs1205136995	557	A>T		No	ClinGen gnomAD
CA392202194 rs1253834963	558	C>G		No	ClinGen TOPMed gnomAD
CA7532271 rs768987510	559	K>Q		No	ClinGen ExAC gnomAD
CA7532270 rs747415871	559	K>R		No	ClinGen ExAC gnomAD
rs563506964 CA7532268	561	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7532267 rs746378483	561	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
TCGA novel	562	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401296295 CA392202095	563	V>A		No	ClinGen gnomAD
rs1298733777 CA392202101	563	V>L		No	ClinGen TOPMed gnomAD
CA392202085 rs1382211290	564	V>M		No	ClinGen TOPMed
rs1170994073 CA392202057	565	S>R		No	ClinGen gnomAD
CA7532265 rs756855308	566	L>M		No	ClinGen ExAC gnomAD
CA392202039 rs1328603923	567	L>F		No	ClinGen TOPMed
CA392202037 rs1328603923	567	L>V		No	ClinGen TOPMed
CA270076090 rs375941965	568	I>L		No	ClinGen ESP gnomAD
CA7532263 rs373069405	568	I>T		No	ClinGen ESP ExAC gnomAD
CA7532261 rs752602387	570	T>I		No	ClinGen ExAC gnomAD

No associated diseases with Q7Z6J6

No regional properties for Q7Z6J6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q7Z6J6

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein Cell junction, adherens junction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

3 GO annotations of molecular function

Name	Definition
cytoskeletal protein binding	Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
integrin binding	Binding to an integrin.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

4 GO annotations of biological process

Name	Definition
actomyosin structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
negative regulation of cell motility	Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility.
positive regulation of cell adhesion	Any process that activates or increases the frequency, rate or extent of cell adhesion.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58CU2	EPB41L5	Band 4.1-like protein 5	Bos taurus (Bovine)	PR
Q9HCM4	EPB41L5	Band 4.1-like protein 5	Homo sapiens (Human)	PR
Q9HCS5	EPB41L4A	Band 4.1-like protein 4A	Homo sapiens (Human)	PR
A2A2Y4	FRMD3	FERM domain-containing protein 3	Homo sapiens (Human)	PR
O43491	EPB41L2	Band 4.1-like protein 2	Homo sapiens (Human)	PR
Q9H4G0	EPB41L1	Band 4.1-like protein 1	Homo sapiens (Human)	PR
P11171	EPB41	Protein 4.1	Homo sapiens (Human)	PR
Q9Y2J2	EPB41L3	Band 4.1-like protein 3	Homo sapiens (Human)	PR
P52963	Epb41l4a	Band 4.1-like protein 4A	Mus musculus (Mouse)	PR
Q8BGS1	Epb41l5	Band 4.1-like protein 5	Mus musculus (Mouse)	PR
Q8BHD4	Frmd3	FERM domain-containing protein 3	Mus musculus (Mouse)	PR
Q6P5H6	Frmd5	FERM domain-containing protein 5	Mus musculus (Mouse)	PR
Q0P4Q4	frmd3	FERM domain-containing protein 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
O57457	epb41l4a	Band 4.1-like protein 4	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MLSRLMSGSS	RSLEREYSCT	VRLLDDSEYT	CTIQRDAKGQ	YLFDLLCHHL	NLLEKDYFGI
70	80	90	100	110	120
RFVDPDKQRH	WLEFTKSVVK	QLRSQPPFTM	CFRVKFYPAD	PAALKEEITR	YLVFLQIKRD
130	140	150	160	170	180
LYHGRLLCKT	SDAALLAAYI	LQAEIGDYDS	GKHPEGYSSK	FQFFPKHSEK	LERKIAEIHK
190	200	210	220	230	240
TELSGQTPAT	SELNFLRKAQ	TLETYGVDPH	PCKDVSGNAA	FLAFTPFGFV	VLQGNKRVHF
250	260	270	280	290	300
IKWNEVTKLK	FEGKTFYLYV	SQKEEKKIIL	TYFAPTPEAC	KHLWKCGIEN	QAFYKLEKSS
310	320	330	340	350	360
QVRTVSSSNL	FFKGSRFRYS	GRVAKEVMES	SAKIKREPPE	IHRAGMVPSR	SCPSITHGPR
370	380	390	400	410	420
LSSVPRTRRR	AVHISIMEGL	ESLRDSAHST	PVRSTSHGDT	FLPHVRSSRT	DSNERVAVIA
430	440	450	460	470	480
DEAYSPADSV	LPTPVAEHSL	ELMLLSRQIN	GATCSIEEEK	ESEASTPTAT	EVEALGGELR
490	500	510	520	530	540
ALCQGHSGPE	EEQVNKFVLS	VLRLLLVTMG	LLFVLLLLLI	ILTESDLDIA	FFRDIRQTPE
550	560
FEQFHYQYFC	PLRRWFACKI	RSVVSLLIDT