AiPD: Autoinhibited Protein Database

Q8IZ07

Gene name	ANKRD13A (ANKRD13)
Protein name	Ankyrin repeat domain-containing protein 13A
Names	Protein KE03
Species	Homo sapiens (Human)
KEGG Pathway	hsa:88455
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

165-381 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

165-381 (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 Q8IZ07

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZ07-F1	Predicted				AlphaFoldDB

428 variants for Q8IZ07

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA386656304 rs1593190311	3	S>W		No	ClinGen Ensembl
CA6782231 rs375741955	10	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA386656360 rs1318046030	11	Y>*		No	ClinGen TOPMed
rs756596856 CA6782232	11	Y>H		No	ClinGen ExAC gnomAD
rs1468029433 CA386656367	12	P>L		No	ClinGen gnomAD
rs1408539798 CA386656369	13	L>V		No	ClinGen TOPMed gnomAD
rs1219134577 CA386656392	17	V>I		No	ClinGen gnomAD
CA243480239 rs935017554	21	D>H		No	ClinGen TOPMed
CA683452498 rs1163422323	22	Y>*		No	ClinGen TOPMed
rs1284174475 CA386656435	22	Y>S		No	ClinGen gnomAD
CA6782233 rs200379593	23	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386656439 rs200379593	23	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183137546 CA386656443	24	Q>K		No	ClinGen TOPMed
rs966165725 CA386656457	26	E>K		No	ClinGen TOPMed gnomAD
rs966165725 CA243480269	26	E>Q		No	ClinGen TOPMed gnomAD
rs754182669 CA6782234	27	K>R		No	ClinGen ExAC gnomAD
rs1284858671 CA386656477	28	E>D		No	ClinGen gnomAD
rs757655686 CA386656499	32	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6782235 rs757655686	32	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA386657510 rs1359507721	33	N>H		No	ClinGen TOPMed gnomAD
rs1223523308 CA386657515	33	N>K		No	ClinGen TOPMed
rs773139784 CA6782245	34	V>A		No	ClinGen ExAC gnomAD
CA386657516 rs1566049225	34	V>M		No	ClinGen Ensembl
CA386657531 rs1419424204	36	A>T		No	ClinGen gnomAD
CA386657542 rs1324692733	38	D>H		No	ClinGen TOPMed gnomAD
rs759845338 CA6782246	39	P>A		No	ClinGen ExAC gnomAD
rs1437001799 CA386657554	40	R>*		No	ClinGen TOPMed gnomAD
CA6782247 rs375280495	40	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6782248 rs775458531	41	G>V		No	ClinGen ExAC gnomAD
rs760763747 CA6782249	42	R>G		No	ClinGen ExAC gnomAD
rs138438848 CA6782250	42	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA243487481 rs370789667	43	T>I		No	ClinGen ESP
TCGA novel	47	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386657597 rs1593204213	47	L>P		No	ClinGen Ensembl
TCGA novel	53	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386657639 rs1429126550	54	L>V		No	ClinGen Ensembl
CA386657642 rs1566049337	54	L>W		No	ClinGen Ensembl
CA6782253 rs765655300	56	S>P		No	ClinGen ExAC gnomAD
rs1566049363 CA386657661	57	A>D		No	ClinGen Ensembl
rs1402482787 CA386657665	58	R>*		No	ClinGen TOPMed
CA6782254 rs367870655	58	R>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6782255 rs758058505	61	L>F		No	ClinGen ExAC gnomAD
rs779708726 COSM1245010 CA6782256	62	R>*	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA386657699 rs1313649459	62	R>L		No	ClinGen gnomAD
rs1357206361 CA386657710	63	H>R		No	ClinGen gnomAD
rs746611484 CA6782257	65	A>P		No	ClinGen ExAC gnomAD
CA6782258 rs754566253	65	A>V		No	ClinGen ExAC gnomAD
CA243487491 rs918721721	66	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6782259 rs780555673	68	T>K		No	ClinGen ExAC gnomAD
rs1248711771 CA386657775	69	K>E		No	ClinGen TOPMed gnomAD
CA6782260 rs142776937	70	E>K		No	ClinGen ExAC gnomAD
CA6782261 rs769790065 COSM172581	72	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749046410 CA6782263	72	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6782262 rs769790065	72	R>S		No	ClinGen ExAC gnomAD
CA6782264 rs772210093	74	G>R		No	ClinGen ExAC gnomAD
rs1048934125 CA243487523	76	T>A		No	ClinGen gnomAD
CA386657883 rs1197224794	77	V>I		No	ClinGen TOPMed
CA6782288 rs770316828	79	H>P		No	ClinGen ExAC gnomAD
TCGA novel	81	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1340936485 CA386658038	82	V>A		No	ClinGen gnomAD
rs1279990350 CA386658029	82	V>M		No	ClinGen gnomAD
rs773757209 CA6782289	83	S>R		No	ClinGen ExAC TOPMed gnomAD
CA386658055 rs1282943008	84	T>A		No	ClinGen gnomAD
rs766832970 CA6782291	86	D>G		No	ClinGen ExAC gnomAD
CA386658073 rs1340623523	86	D>N		No	ClinGen TOPMed
CA6782292 rs751802235	88	E>Q		No	ClinGen ExAC gnomAD
CA386658120 rs1422330861	89	M>I		No	ClinGen TOPMed
rs1299557047 CA386658110	89	M>L		No	ClinGen TOPMed
CA6782294 rs767227091	91	Y>F		No	ClinGen ExAC gnomAD
CA6782293 rs147398713	91	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA386658156 rs1265970273	92	T>I		No	ClinGen TOPMed gnomAD
CA386658154 rs1265970273	92	T>K		No	ClinGen TOPMed gnomAD
rs139699900 CA6782297	93	V>I		No	ClinGen ESP ExAC gnomAD
CA6782298 rs753874717	94	L>V		No	ClinGen ExAC TOPMed gnomAD
CA386658191 rs1566050295	95	Q>R		No	ClinGen Ensembl
CA6782301 rs745593819	96	H>Y		No	ClinGen ExAC gnomAD
CA6782302 rs768945364	97	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781353037 CA6782303	97	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1210738050 CA386658263	100	H>N		No	ClinGen TOPMed
CA386658290 rs1593205749	101	N>S		No	ClinGen Ensembl
CA6782305 rs748348102	102	T>A		No	ClinGen ExAC gnomAD
rs1301023804 CA386658315	103	S>P		No	ClinGen gnomAD
rs1301023804 CA386658312	103	S>T		No	ClinGen gnomAD
CA386658317 rs1365788256	103	S>Y		No	ClinGen gnomAD
rs1035209879 CA243488127	104	M>V		No	ClinGen TOPMed gnomAD
CA386658403 rs1316482892	110	P>S		No	ClinGen gnomAD
CA386658420 rs1238042388	111	E>D		No	ClinGen gnomAD
rs1593205815 CA386658433	114	Q>K		No	ClinGen Ensembl
TCGA novel	116	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243488139 rs764892120	117	L>F		No	ClinGen TOPMed gnomAD
CA386658467 rs1593205841	118	E>G		No	ClinGen Ensembl
CA6782308 rs372889145	118	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6782321 rs779811874	119	A>D		No	ClinGen ExAC gnomAD
rs1231965110 CA386659245	119	A>P		No	ClinGen TOPMed gnomAD
CA6782322 rs748435968	120	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	122	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386659294 rs1443451523	123	Y>F		No	ClinGen gnomAD
rs1181752186 CA386659303	124	V>L		No	ClinGen gnomAD
rs917216576 CA243489664	126	M>V		No	ClinGen TOPMed gnomAD
rs369353301 CA6782324	128	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6782325 rs749276610	130	F>I		No	ClinGen ExAC
CA6782326 rs771497155	131	T>I		No	ClinGen ExAC TOPMed gnomAD
CA386659462 rs771497155	131	T>N		No	ClinGen ExAC TOPMed gnomAD
CA386659473 rs1354196717	132	S>G		No	ClinGen TOPMed gnomAD
CA386659501 rs1464219956	133	W>G		No	ClinGen gnomAD
CA6782339 rs766165024	134	V>A		No	ClinGen ExAC gnomAD
rs751295658 CA6782340	139	R>G		No	ClinGen ExAC gnomAD
rs1593212369 CA386659840	140	I>M		No	ClinGen Ensembl
rs902921816 CA243490784	141	C>Y		No	ClinGen TOPMed
CA6782342 rs777815887	144	D>N		No	ClinGen ExAC gnomAD
CA386659938 rs1593212393	145	V>I		No	ClinGen Ensembl
TCGA novel	146	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	146	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM934902 rs1449473254 CA386659990	147	R>H	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs749491845 CA6782343	148	I>V		No	ClinGen ExAC TOPMed gnomAD
rs370163748 CA6782344	151	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6782346 rs746448236	156	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA243490836 rs894655291	156	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764383276 CA6782348	157	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1215030113 CA386660183	158	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1435240253 CA386660214	159	I>T		No	ClinGen TOPMed
CA386660313 rs1325238007	166	N>T		No	ClinGen TOPMed
rs764720723 CA6782353	167	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761504636 CA6782352	167	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1016927100 CA243490889	168	S>N		No	ClinGen TOPMed
CA386660368 rs1477797527	169	W>C		No	ClinGen gnomAD
CA6782354 rs772710854	170	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1593212540 CA386660374	170	I>V		No	ClinGen Ensembl
CA386660406 rs1427407548	173	R>K		No	ClinGen TOPMed gnomAD
CA386660416 rs1318314825	174	R>C		No	ClinGen gnomAD
COSM1182844 rs766253422 CA6782356	174	R>H	Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767317833 CA6782359	176	F>Y		No	ClinGen ExAC gnomAD
rs148691609 CA6782360	177	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6782361 rs376855837	178	F>L		No	ClinGen ESP ExAC
CA6782362 rs182449540	178	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1026299876 CA243490930	180	G>R		No	ClinGen TOPMed
rs758997709 CA6782364	181	E>G		No	ClinGen ExAC gnomAD
rs745887423 CA6782363	181	E>Q		No	ClinGen ExAC gnomAD
CA6782382 rs780258923	183	N>S		No	ClinGen ExAC gnomAD
CA243491211 rs1012068764	185	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs373926911 CA6782384	186	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA243491217 rs866470858	186	E>K		No	ClinGen gnomAD
CA6782385 rs373926911	186	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781429761 CA243491232	188	M>I		No	ClinGen Ensembl
rs1165294397 CA386661179	189	E>D		No	ClinGen gnomAD
rs748494840 CA386661198	191	N>I		No	ClinGen ExAC TOPMed gnomAD
rs748494840 CA6782386	191	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6782387 rs367745440	192	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA386661232 rs1328840456	194	D>E		No	ClinGen gnomAD
CA6782388 rs777439493	194	D>N		No	ClinGen ExAC
CA386661241 rs1378566899	195	K>R		No	ClinGen TOPMed gnomAD
rs748914527 CA6782389	199	T>I		No	ClinGen ExAC gnomAD
rs748914527 CA6782390	199	T>N		No	ClinGen ExAC gnomAD
rs759400191 CA6782392	200	E>K		No	ClinGen ExAC TOPMed gnomAD
CA243491245 rs759400191	200	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1246760784 CA386661298	201	R>C		No	ClinGen gnomAD
CA6782393 rs771991859	201	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA386661305 rs771991859	201	R>L		No	ClinGen ExAC TOPMed gnomAD
CA386661315 rs577498777	202	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6782395 rs59713918	203	D>H		No	ClinGen ExAC gnomAD
rs59713918 CA386661320	203	D>N		No	ClinGen ExAC gnomAD
CA243491253 rs59713918	203	D>Y		No	ClinGen ExAC gnomAD
CA386661372 rs1199287353	206	Q>R		No	ClinGen gnomAD
CA386661400 rs1256070518	208	M>R		No	ClinGen gnomAD
rs376736792 CA6782397	208	M>V		No	ClinGen ESP ExAC
CA243491257 rs920788695	209	E>K		No	ClinGen TOPMed
rs763255679 CA6782398	210	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1481217387 CA386661422 COSM268662	210	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	211	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782399 rs766570220	212	T>S		No	ClinGen ExAC gnomAD
CA6782401 rs755461267	213	L>R		No	ClinGen ExAC gnomAD
rs756549114 CA6782404	215	L>F		No	ClinGen ExAC gnomAD
rs781694896 CA6782403	215	L>S		No	ClinGen ExAC TOPMed gnomAD
rs781694896 CA6782402	215	L>W		No	ClinGen ExAC TOPMed gnomAD
CA386661493 rs1181211109	216	M>T		No	ClinGen TOPMed
CA243491292 rs368511846	217	K>*		No	ClinGen ESP
rs757941658 CA243491300	218	P>A		No	ClinGen Ensembl
CA6782405 rs372209477	220	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1400008735 CA386661552	220	S>N		No	ClinGen gnomAD
rs1400008735 CA386661554	220	S>T		No	ClinGen gnomAD
rs954324818 CA243491305	221	R>G		No	ClinGen Ensembl
CA6782406 rs749004301	222	E>K		No	ClinGen ExAC gnomAD
rs756840160 CA6782407	224	E>G		No	ClinGen ExAC TOPMed gnomAD
CA386661610 rs745337377	225	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6782409 rs745337377	225	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs142252344 CA6782408	225	R>W	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6782411 rs775539484	226	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771938067 CA6782410	226	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782412 rs746901473	229	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768631281 CA6782413	230	P>S		No	ClinGen ExAC gnomAD
rs965453097 CA243491322	232	I>V		No	ClinGen Ensembl
CA386661693 COSM1579784 rs763280451	233	N>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1488177066 CA386661717	235	S>R		No	ClinGen gnomAD
rs759700216 CA6782418	237	D>E		No	ClinGen ExAC TOPMed gnomAD
rs774324350 CA6782417	237	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1174890532 CA386661751	238	T>I		No	ClinGen TOPMed gnomAD
CA6782419 rs369473960	240	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386661786 rs1593213955	241	I>T		No	ClinGen Ensembl
rs1593213973 CA386661797	242	A>G		No	ClinGen Ensembl
rs753303334 CA6782420	242	A>T		No	ClinGen ExAC gnomAD
rs1201055621 CA386662072	253	W>L		No	ClinGen gnomAD
rs775666144 CA6782460	255	T>I		No	ClinGen ExAC gnomAD
CA386662125 rs1376046813	260	V>G		No	ClinGen TOPMed gnomAD
rs151259039 CA6782463	261	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1003885246 CA243497036	264	Y>C		No	ClinGen TOPMed
CA6782465 rs762295453	265	E>K		No	ClinGen ExAC TOPMed gnomAD
CA386662153 rs762295453	265	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6782466 rs765701571	267	K>M		No	ClinGen ExAC TOPMed gnomAD
CA386662346 rs1270406584	269	Y>H		No	ClinGen gnomAD
CA6782494 rs767135350	270	T>S		No	ClinGen ExAC gnomAD
COSM934904 CA6782497 rs763901109	281	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6782498 rs139619351	281	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs757054501 CA6782499	286	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757054501 CA386662645	286	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6782500 rs778669144	287	E>K		No	ClinGen ExAC gnomAD
rs1189512424 CA386662670	288	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1435944435 CA386662683	289	E>K		No	ClinGen gnomAD
TCGA novel	290	K>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1023624728 CA243497999	291	K>E		No	ClinGen Ensembl
TCGA novel	291	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191895504 CA386662722	291	K>R		No	ClinGen TOPMed
TCGA novel	292	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1593221426 CA386662740	292	R>S		No	ClinGen Ensembl
CA386662755 rs1359102851	294	K>E		No	ClinGen gnomAD
CA243499097 rs1042926778	297	R>G		No	ClinGen TOPMed
CA6782515 rs763641706	299	P>L		No	ClinGen ExAC TOPMed gnomAD
CA386663557 rs763641706	299	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757215170 CA6782517	301	E>K		No	ClinGen ExAC gnomAD
rs930019223 CA243499140	303	L>F		No	ClinGen Ensembl
rs1593223995 CA386663591	304	L>P		No	ClinGen Ensembl
TCGA novel	306	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313812596 CA386663621	309	H>Y		No	ClinGen TOPMed
CA386663633 rs144326895	310	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA386663641 rs1325078218	311	F>L		No	ClinGen gnomAD
rs1555248274 CA386663643	312	G>C		No	ClinGen Ensembl
rs1350000908 CA386663646	312	G>D		No	ClinGen TOPMed
CA243499155 rs999186536	313	A>T		No	ClinGen TOPMed gnomAD
rs781431177 CA386663663	315	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6782521 rs781431177	315	G>W		No	ClinGen ExAC TOPMed gnomAD
CA386663781 rs1459268450	317	L>P		No	ClinGen gnomAD
CA243499543 rs949984719	317	L>V		No	ClinGen TOPMed
rs1338548460 CA386663783	318	T>P		No	ClinGen gnomAD
rs756289642 CA6782541	319	T>M		No	ClinGen ExAC TOPMed gnomAD
CA386663798 rs1218118905	320	E>K		No	ClinGen gnomAD
rs1228475100 CA386663814	321	C>Y		No	ClinGen TOPMed
CA6782543 rs753903377	323	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1332855373 CA386663837	323	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	324	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779607468 CA6782545	325	N>D		No	ClinGen ExAC gnomAD
CA243499584 rs771811225	326	N>H		No	ClinGen gnomAD
CA386663870 rs1340882691	326	N>K		No	ClinGen TOPMed
rs1446987643 CA386663864	326	N>S		No	ClinGen TOPMed
CA6782546 rs746358295	328	T>I		No	ClinGen ExAC TOPMed gnomAD
CA386663887 rs746358295	328	T>K		No	ClinGen ExAC TOPMed gnomAD
rs772626602 CA6782547	329	A>D		No	ClinGen ExAC TOPMed gnomAD
CA386663888 rs1432746745	329	A>T		No	ClinGen TOPMed
rs780466148 CA6782548	330	I>V		No	ClinGen ExAC gnomAD
CA6782549 rs746646331	331	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1462038780 CA386663946	334	E>V		No	ClinGen gnomAD
TCGA novel	335	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782551 rs776028800	336	F>L		No	ClinGen ExAC gnomAD
CA6782552 rs150245310	337	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769269891 CA6782553	340	F>L		No	ClinGen ExAC TOPMed gnomAD
CA386664021 rs1339570086	340	F>S		No	ClinGen TOPMed gnomAD
CA243499631 rs1049280571	341	D>V		No	ClinGen TOPMed
CA6782554 rs773190365	342	L>V		No	ClinGen ExAC gnomAD
rs762873412 CA6782555	344	D>N		No	ClinGen ExAC TOPMed gnomAD
CA386664077 rs1313020035	345	R>G		No	ClinGen gnomAD
rs766166768 CA6782556	345	R>K		No	ClinGen ExAC gnomAD
rs886220092 CA243499652	346	D>G		No	ClinGen TOPMed
rs751306654 CA6782557	347	I>T		No	ClinGen ExAC gnomAD
rs764334581 CA6782559	350	P>L		No	ClinGen ExAC gnomAD
CA386664158 rs1215861788	352	E>G		No	ClinGen TOPMed
CA6782561 rs757465378	353	L>V		No	ClinGen ExAC gnomAD
rs1263330241 CA386664178	354	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1197505812 CA386664196	356	R>G		No	ClinGen gnomAD
CA6782563 rs370433255	358	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758913072 CA6782564	359	K>R		No	ClinGen ExAC gnomAD
rs1454545411 CA386664381	361	K>E		No	ClinGen gnomAD
TCGA novel	362	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762126665 CA6782582	363	M>L		No	ClinGen ExAC gnomAD
CA243500189 rs969469946	363	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	364	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386664581 rs1304816502	370	F>S		No	ClinGen gnomAD
CA6782583 rs765416553	371	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1202279592 CA386664618	373	S>P		No	ClinGen TOPMed
TCGA novel	374	L>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782585 rs758997511	377	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs766870223 CA6782586	378	V>F		No	ClinGen ExAC TOPMed gnomAD
CA386664769 rs1243696277	383	D>H		No	ClinGen gnomAD
rs373804069 CA243500207	387	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs373804069 CA6782587	387	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6782588 rs755427453	387	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6782589 COSM934906 rs755427453	387	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs367703492 CA243500209	388	T>M		No	ClinGen ESP TOPMed gnomAD
CA243500229 rs992313512	389	S>I		No	ClinGen gnomAD
rs992313512 CA386664806	389	S>N		No	ClinGen gnomAD
rs372319311 CA243500262	389	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423016679 CA386664809	390	A>T		No	ClinGen gnomAD
rs770313128 CA6782594	391	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	399	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386664876 rs1326607842	399	I>S		No	ClinGen TOPMed gnomAD
rs745782030 CA6782596	400	K>E		No	ClinGen ExAC gnomAD
CA6782597 rs771973183	400	K>R		No	ClinGen ExAC gnomAD
rs1464679788 CA386664891	402	E>K		No	ClinGen gnomAD
rs775362594 CA6782598	406	G>R		No	ClinGen ExAC gnomAD
CA6782600 rs765507638	409	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	411	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	412	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782619 rs768541474	413	I>T		No	ClinGen ExAC gnomAD
TCGA novel	422	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149017101 CA6782622	422	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs145843175 CA6782621	422	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA386665046 rs1199994308	423	I>T		No	ClinGen TOPMed
CA386665081 rs1474467679	428	V>A		No	ClinGen gnomAD
CA6782625 rs767967381	430	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6782626 rs753168827	431	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1593227992 CA386665101	431	C>W		No	ClinGen Ensembl
rs761074615 CA6782627	431	C>Y		No	ClinGen ExAC gnomAD
CA6782628 rs368389044	433	T>I		No	ClinGen ESP ExAC gnomAD
CA243500789 rs916926439	434	A>P		No	ClinGen gnomAD
rs756796674 CA6782630	435	E>K		No	ClinGen ExAC TOPMed gnomAD
rs374461686 CA243500790	435	E>V		No	ClinGen Ensembl
rs778502476 CA6782631	436	E>K		No	ClinGen ExAC gnomAD
rs1270321171 CA386665138	437	S>F		No	ClinGen TOPMed gnomAD
CA386665146 rs1322384623	439	S>P		No	ClinGen TOPMed
CA243500794 rs949645953	441	N>K		No	ClinGen gnomAD
rs1333719473 CA386665217	449	S>*		No	ClinGen TOPMed
rs1333719473 CA386665218	449	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs746922617 CA6782635	450	A>T		No	ClinGen ExAC gnomAD
TCGA novel	451	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243502330 rs914801976	451	S>P		No	ClinGen TOPMed
rs142742962 CA6782655	452	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA243502347 rs1041682065	453	I>L		No	ClinGen TOPMed
rs111400359 CA243502353	454	T>A		No	ClinGen TOPMed
CA386665804 rs111400359	454	T>S		No	ClinGen TOPMed
rs779700058 CA6782656	455	N>D		No	ClinGen ExAC TOPMed gnomAD
rs544700124 CA243502358	459	D>N		No	ClinGen Ensembl
CA6782658 rs751544802	460	Q>E		No	ClinGen ExAC gnomAD
rs138034856 CA6782661	461	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138034856 CA6782660	461	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326760476 CA386665905	464	E>D		No	ClinGen gnomAD
CA386665917 rs1362633322	465	I>M		No	ClinGen TOPMed
rs779049689 CA6782663	466	P>S		No	ClinGen ExAC
CA6782666 rs775484007	467	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6782668 rs143581063	470	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA243502415 rs376652102	471	V>I		No	ClinGen ESP TOPMed gnomAD
TCGA novel	473	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1012050261 CA243502418	474	N>S		No	ClinGen TOPMed
CA6782669 rs777085804	478	V>A		No	ClinGen ExAC gnomAD
CA6782670 rs551577101	479	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386666132 rs1182929875	481	Q>*		No	ClinGen gnomAD
rs1262992764 CA386666142	481	Q>R		No	ClinGen TOPMed
rs772801496 CA6782672	483	E>D		No	ClinGen ExAC TOPMed gnomAD
CA243502433 rs878926406	485	Y>N		No	ClinGen Ensembl
CA243502438 rs947717321	486	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs765998597 CA6782674	487	I>V		No	ClinGen ExAC TOPMed gnomAD
CA386666421 rs1566064464	496	L>P		No	ClinGen Ensembl
CA386666441 rs1398496803	498	E>D		No	ClinGen gnomAD
CA386666509 rs1410347702	502	S>I		No	ClinGen gnomAD
CA386667627 rs1436296076	504	E>D		No	ClinGen gnomAD
CA386667615 rs1373464285	504	E>Q		No	ClinGen gnomAD
CA6782693 rs774112727	505	L>F		No	ClinGen ExAC gnomAD
rs2287174 VAR_048276 CA6782694	505	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767039693 CA6782695	507	G>E		No	ClinGen ExAC gnomAD
CA6782696 rs752642688	508	P>R		No	ClinGen ExAC gnomAD
rs756011134 CA6782697 COSM934907	510	S>L	endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA386667773 rs1566065935	513	G>R		No	ClinGen Ensembl
CA6782701 rs758650747	516	Q>*		No	ClinGen ExAC gnomAD
CA386667909 rs1280628694	519	T>I		No	ClinGen TOPMed gnomAD
rs370650390 CA6782702	520	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs149916969 CA6782704	522	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA243503304 rs962743997	523	Q>*		No	ClinGen Ensembl
CA6782705 rs781330413	523	Q>R		No	ClinGen ExAC gnomAD
rs183992793 CA6782706	524	Y>H		No	ClinGen 1000Genomes ExAC
CA6782707 rs770284838	526	R>K		No	ClinGen ExAC gnomAD
rs751848363 CA6782721	527	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1000830052 CA243503837	528	I>M		No	ClinGen TOPMed gnomAD
rs755163956 CA6782722	530	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1246000070 CA386668303	532	L>F		No	ClinGen TOPMed
rs1302885978 CA386668317	533	L>F		No	ClinGen gnomAD
rs781150657 CA6782723	535	S>T		No	ClinGen ExAC gnomAD
CA243503847 rs112537960	536	T>A		No	ClinGen gnomAD
rs756112503 CA6782725	538	G>S		No	ClinGen ExAC gnomAD
rs778468318 CA6782726	540	C>Y		No	ClinGen ExAC gnomAD
rs779353067 CA6782729	542	S>R		No	ClinGen ExAC gnomAD
rs1392338173 CA386668462	542	S>R		No	ClinGen gnomAD
rs771489251 CA6782728	542	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM200849 rs1373075190 CA386668489	543	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6782731 rs745518438	544	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6782730 rs745518438	544	L>R		No	ClinGen ExAC TOPMed gnomAD
rs774895845 CA6782732	545	S>G		No	ClinGen ExAC gnomAD
CA6782734 rs199565526 CA6782735	545	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750163831 CA6782739	546	E>D		No	ClinGen ExAC gnomAD
CA6782737 rs765023435	546	E>G		No	ClinGen ExAC
CA6782736 rs761738913	546	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA6782740 rs79189647	547	T>K		No	ClinGen ExAC gnomAD
CA243503935 rs79189647	547	T>R		No	ClinGen ExAC gnomAD
rs144667475 CA243503940	549	R>C		No	ClinGen ESP TOPMed gnomAD
rs752836978 CA6782741	549	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1365943967 CA386668611	551	D>H		No	ClinGen TOPMed
TCGA novel	551	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782743 rs764264544	553	D>G		No	ClinGen ExAC gnomAD
rs1293444526 CA386668700	556	L>V		No	ClinGen TOPMed
TCGA novel	557	A>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782745 rs754368413	558	M>T		No	ClinGen ExAC gnomAD
rs1187494416 CA386668729	558	M>V		No	ClinGen gnomAD
rs1406161985 CA386668759	559	E>A		No	ClinGen TOPMed
rs1463029205 CA386668752	559	E>K		No	ClinGen gnomAD
CA386668783 rs1222150128	560	L>P		No	ClinGen gnomAD
CA386668816 rs1566066954	563	K>Q		No	ClinGen Ensembl
rs1354426063 CA386668839	564	E>G		No	ClinGen TOPMed gnomAD
CA386668852 rs1373223884	565	L>Q		No	ClinGen TOPMed
rs1248415965 CA386668856	566	E>K		No	ClinGen gnomAD
rs139554422 CA6782746	567	E>K		No	ClinGen ESP ExAC gnomAD
rs1052403700 CA243503965	568	W>*		No	ClinGen TOPMed
CA6782748 rs779444239	571	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6782751 rs758660209	573	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs746632017 CA6782752	574	E>K		No	ClinGen ExAC gnomAD
CA386669013 rs1566067041	578	E>K		No	ClinGen Ensembl
CA386669058 rs1275172216	584	Q>*		No	ClinGen gnomAD
rs144212333 CA6782755	584	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6782757 rs769677196	587	L>F		No	ClinGen ExAC gnomAD
rs1476247658 CA386669085	589	D>N		No	ClinGen gnomAD
TCGA novel	590	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8IZ07

2 regional properties for Q8IZ07

Type	Name	Position	InterPro Accession
domain	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	141 - 383	IPR002181
conserved_site	Fibrinogen, conserved site	333 - 345	IPR020837

Functions

		Description
EC Number
Subcellular Localization	Cell membrane Late endosome	Interaction with EGFR may enhance association with the cell membrane
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.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
ubiquitin-dependent protein binding	Binding to a protein upon ubiquitination of the target protein.

2 GO annotations of biological process

Name	Definition
negative regulation of protein localization to endosome	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to endosome.
negative regulation of receptor internalization	Any process that stops, prevents, or reduces the frequency, rate or extent of receptor internalization.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q80UP5	Ankrd13a	Ankyrin repeat domain-containing protein 13A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSSACDAGDH	YPLHLLVWKN	DYRQLEKELQ	GQNVEAVDPR	GRTLLHLAVS	LGHLESARVL
70	80	90	100	110	120
LRHKADVTKE	NRQGWTVLHE	AVSTGDPEMV	YTVLQHRDYH	NTSMALEGVP	ELLQKILEAP
130	140	150	160	170	180
DFYVQMKWEF	TSWVPLVSRI	CPNDVCRIWK	SGAKLRVDIT	LLGFENMSWI	RGRRSFIFKG
190	200	210	220	230	240
EDNWAELMEV	NHDDKVVTTE	RFDLSQEMER	LTLDLMKPKS	REVERRLTSP	VINTSLDTKN
250	260	270	280	290	300
IAFERTKSGF	WGWRTDKAEV	VNGYEAKVYT	VNNVNVITKI	RTEHLTEEEK	KRYKADRNPL
310	320	330	340	350	360
ESLLGTVEHQ	FGAQGDLTTE	CATANNPTAI	TPDEYFNEEF	DLKDRDIGRP	KELTIRTQKF
370	380	390	400	410	420
KAMLWMCEEF	PLSLVEQVIP	IIDLMARTSA	HFARLRDFIK	LEFPPGFPVK	IEIPLFHVLN
430	440	450	460	470	480
ARITFGNVNG	CSTAEESVSQ	NVEGTQADSA	SHITNFEVDQ	SVFEIPESYY	VQDNGRNVHL
490	500	510	520	530	540
QDEDYEIMQF	AIQQSLLESS	RSQELSGPAS	NGGISQTNTY	DAQYERAIQE	SLLTSTEGLC
550	560	570	580
PSALSETSRF	DNDLQLAMEL	SAKELEEWEL	RLQEEEAELQ	QVLQLSLTDK