AiPD: Autoinhibited Protein Database

Q8TAL5

Gene name	C9orf43
Protein name	Uncharacterized protein C9orf43
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:257169
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

266-346 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

266-346 (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 Q8TAL5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TAL5-F1	Predicted				AlphaFoldDB

399 variants for Q8TAL5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775153528 CA5196908	5	D>H		No	ClinGen ExAC gnomAD
CA5196907 rs775153528	5	D>Y		No	ClinGen ExAC gnomAD
rs1315083717 CA374571281	6	E>K		No	ClinGen gnomAD
rs763996934 COSM119663 CA374571344	10	D>E	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374571337 rs1352573542	10	D>H		No	ClinGen gnomAD
CA374571349 rs1288623032	11	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1588099990 CA374571365	12	T>P		No	ClinGen Ensembl
CA5196910 rs753395769	13	T>A		No	ClinGen ExAC gnomAD
CA374571388 rs1254650919	14	C>R		No	ClinGen gnomAD
CA5196912 CA5196913 rs764961326	16	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1588100019 CA374571437	18	V>I		No	ClinGen Ensembl
rs1588100023 CA374571458	19	C>F		No	ClinGen Ensembl
CA374571511 rs1588100040	23	Q>P		No	ClinGen Ensembl
CA374571521 rs1588100049	24	C>S		No	ClinGen Ensembl
CA374571525 rs1234479345	24	C>Y		No	ClinGen TOPMed
CA374571539 rs1379697649	25	W>*		No	ClinGen TOPMed gnomAD
rs1039244418 CA374571573	28	I>L		No	ClinGen TOPMed gnomAD
rs1039244418 CA198565643	28	I>V		No	ClinGen TOPMed gnomAD
rs140393057 CA5196915	29	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140393057 CA5196916	29	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756627091 CA5196917	30	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1050885321 CA198565653	30	R>H		No	ClinGen TOPMed gnomAD
rs778187103 CA5196918	31	I>V		No	ClinGen ExAC gnomAD
rs749352310 CA5196919	33	R>T		No	ClinGen ExAC gnomAD
CA374571645 rs892765376	34	G>R		No	ClinGen TOPMed gnomAD
CA198565669 rs892765376	34	G>S		No	ClinGen TOPMed gnomAD
rs1232300939 CA374571653	34	G>V		No	ClinGen TOPMed gnomAD
CA374571662 rs1336829363	35	H>R		No	ClinGen gnomAD
CA5196921 rs770952202	36	P>A		No	ClinGen ExAC gnomAD
rs367568001 CA5196922	37	R>*		No	ClinGen 1000Genomes ExAC gnomAD
COSM1104234 rs773877768 CA5196923	37	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5196925 rs372019948	40	G>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5196926 rs372019948	40	G>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs548386317 CA198565720	44	K>T		No	ClinGen 1000Genomes
CA5196929 rs761863039	46	P>H		No	ClinGen ExAC gnomAD
rs1564397926 CA374571806	47	L>P		No	ClinGen Ensembl
rs749954086 CA5196931	48	D>A		No	ClinGen ExAC gnomAD
rs762605848 CA5196932	50	E>A		No	ClinGen ExAC gnomAD
TCGA novel	50	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463963777 CA374571890	51	D>G		No	ClinGen gnomAD
CA5196947 rs768285318	52	K>R		No	ClinGen ExAC
rs761775195 CA5196949	53	L>V		No	ClinGen ExAC gnomAD
CA374571928 rs1292728849	54	P>L		No	ClinGen TOPMed
rs1381616869 CA374571933	55	V>L		No	ClinGen TOPMed
rs879080563 CA198565852	57	T>A		No	ClinGen Ensembl
CA5196951 rs369075240	58	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA374571966 rs1339139154	59	V>I		No	ClinGen gnomAD
CA5196952 rs35207865	60	D>H		No	ClinGen ExAC gnomAD
TCGA novel	60	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169475490 CA374571992	61	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	63	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs965819274 CA198565870	63	D>N		No	ClinGen TOPMed
CA5196955 rs759268837	63	D>V		No	ClinGen ExAC
rs1294183949 CA374572040	65	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs538917360 CA5196957	66	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA198565882 rs924405143	68	A>P		No	ClinGen Ensembl
rs978197731 CA198565883	69	H>R		No	ClinGen TOPMed
TCGA novel	71	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757749488 CA5196958	73	E>G		No	ClinGen ExAC gnomAD
CA198565884 rs955858759	73	E>Q		No	ClinGen Ensembl
CA374572148 rs1188186634	74	C>R		No	ClinGen gnomAD
CA374572153 rs1185510079	74	C>Y		No	ClinGen TOPMed
CA374572163 rs1419694043	75	T>A		No	ClinGen gnomAD
TCGA novel	77	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465208159 CA374572187	77	T>S		No	ClinGen TOPMed
rs750486753 CA5196960	78	K>E		No	ClinGen ExAC gnomAD
rs758456205 CA5196961	78	K>T		No	ClinGen ExAC TOPMed gnomAD
CA5196964 rs755255430	80	H>R		No	ClinGen ExAC gnomAD
CA5196965 rs781072419	81	S>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	81	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5196967 rs769847240	83	L>F		No	ClinGen ExAC TOPMed gnomAD
rs974979462 CA198565941	84	S>C		No	ClinGen TOPMed gnomAD
CA374572267 rs1226659295	84	S>P		No	ClinGen gnomAD
TCGA novel	84	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374572278 rs1317188195	85	Q>*		No	ClinGen gnomAD
CA374572280 rs922165268	85	Q>P		No	ClinGen TOPMed gnomAD
rs922165268 CA198565946	85	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	86	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558548983 CA5196968	86	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA374572305 rs1445061068	87	S>*		No	ClinGen gnomAD
rs770309069 CA374572320	88	K>N		No	ClinGen ExAC TOPMed gnomAD
CA374572349 rs1472395827	90	Y>*		No	ClinGen gnomAD
CA5196973 rs767216305	91	S>C		No	ClinGen ExAC gnomAD
CA5196972 rs575127978	91	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA198565991 rs138681690	92	K>R		No	ClinGen ESP TOPMed gnomAD
CA374572365 rs138681690	92	K>T		No	ClinGen ESP TOPMed gnomAD
rs1446098265 CA374572739	97	P>L		No	ClinGen gnomAD
CA5196995 rs765544741	98	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5196996 rs765544741	98	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1443114214 CA374572755	100	G>D		No	ClinGen gnomAD
rs201404466 CA5196998	101	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228337922 CA374572765	102	P>A		No	ClinGen TOPMed
CA5196999 rs751583285	102	P>H		No	ClinGen ExAC TOPMed gnomAD
CA5197000 rs751583285	102	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5197001 rs767822145	103	D>N		No	ClinGen ExAC TOPMed gnomAD
CA198569750 rs1019084558	103	D>V		No	ClinGen Ensembl
CA198569749 rs767822145	103	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA374572784 rs752930565	105	S>N		No	ClinGen ExAC TOPMed gnomAD
CA5197002 rs752930565	105	S>T		No	ClinGen ExAC TOPMed gnomAD
CA374572792 rs1197486748	106	L>F		No	ClinGen TOPMed gnomAD
CA198569755 rs967578310	106	L>W		No	ClinGen TOPMed gnomAD
rs113088354 CA374572794	107	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777377384 CA5197004	107	I>S		No	ClinGen ExAC gnomAD
CA5197003 rs113088354	107	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146324389 CA5197005	108	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197006 rs757138150	109	C>S		No	ClinGen ExAC TOPMed gnomAD
rs757138150 CA5197007	109	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs771522904 CA5197009	112	R>S		No	ClinGen ExAC gnomAD
rs1430633793 CA374572834	113	L>F		No	ClinGen TOPMed gnomAD
CA198569777 rs896654268	114	P>S		No	ClinGen TOPMed gnomAD
rs1398651675 CA374572845	115	K>E		No	ClinGen gnomAD
rs957377786 CA198569783	115	K>T		No	ClinGen TOPMed gnomAD
CA374573369 rs1329316468	116	F>L		No	ClinGen TOPMed
rs768185422 CA5197031	117	P>A		No	ClinGen ExAC gnomAD
CA198572876 rs938881968	117	P>R		No	ClinGen Ensembl
rs912289731 CA198572887	118	V>A		No	ClinGen TOPMed gnomAD
CA374573382 rs1247640687	118	V>M		No	ClinGen gnomAD
CA374573432 rs1588108258	121	L>F		No	ClinGen Ensembl
CA5197033 rs200504411	123	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5197034 rs552516202	124	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	126	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs531818263 CA374573482	127	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs531818263 CA5197036	127	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1192935353 CA374573478	127	P>T		No	ClinGen TOPMed
CA5197037 rs772767522	128	C>F		No	ClinGen ExAC TOPMed gnomAD
rs889789570 CA198572917	131	D>N		No	ClinGen gnomAD
CA5197040 rs764201836	133	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5197041 rs550825026	135	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1247806431 CA374573586	138	L>F		No	ClinGen gnomAD
rs765014037 CA5197043	138	L>S		No	ClinGen ExAC TOPMed gnomAD
rs901662078 CA198572928	139	W>*		No	ClinGen Ensembl
rs750231161 CA5197045	143	E>A		No	ClinGen ExAC
rs1281857705 CA374573657	144	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5197046 rs758317850	144	T>K		No	ClinGen ExAC TOPMed
CA374573689 rs1564406929	146	I>T		No	ClinGen Ensembl
CA374573861 rs751461957	150	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1252483213 CA374573880	152	G>R		No	ClinGen gnomAD
CA5197071 rs138296577	156	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs138296577 CA374573942	156	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5197072 rs201811495	159	S>L		No	ClinGen ExAC TOPMed gnomAD
CA198574201 rs533864262	160	A>T		No	ClinGen 1000Genomes TOPMed
CA374573996 rs1564408927	160	A>V		No	ClinGen Ensembl
CA374574141 rs1289399108	163	S>C		No	ClinGen TOPMed gnomAD
CA374574145 rs1289399108	163	S>G		No	ClinGen TOPMed gnomAD
rs1490778570 CA374574147	163	S>N		No	ClinGen gnomAD
CA5197100 rs769812005	163	S>R		No	ClinGen ExAC gnomAD
CA374574195 rs1166121235	168	G>A		No	ClinGen TOPMed
rs771203600 CA5197104	169	L>I		No	ClinGen ExAC gnomAD
CA5197105 rs771203600	169	L>V		No	ClinGen ExAC gnomAD
CA5197107 rs772028569	171	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1425662640 CA374574215	172	N>S		No	ClinGen gnomAD
rs775243076 CA5197108	172	N>Y		No	ClinGen ExAC gnomAD
CA5197110 rs142991325	175	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376734622 CA5197111	178	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5197113 rs148106673	178	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197112 rs148106673	178	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197115 rs755347052	179	V>I		No	ClinGen ExAC gnomAD
CA5197118 rs140205519	181	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs777770556 CA5197119	182	P>R		No	ClinGen ExAC
CA5197121 rs757442694	183	G>A		No	ClinGen ExAC gnomAD
CA5197122 rs779057672	184	M>I		No	ClinGen ExAC
rs562322186 CA198575279	184	M>R		No	ClinGen 1000Genomes
rs1248175132 CA374574279	184	M>V		No	ClinGen gnomAD
rs746124027 CA5197123	185	I>V		No	ClinGen ExAC gnomAD
CA5197125 rs369164769	186	V>M		No	ClinGen ESP ExAC gnomAD
rs373965001 CA198575284	187	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5197126 rs373965001	187	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5197127 rs768770299	188	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374574300 rs768770299	188	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5197128 rs776275050	189	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	189	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374574305 rs1406170663	189	P>T		No	ClinGen gnomAD
rs1428522581 CA374574311	190	T>A		No	ClinGen TOPMed
CA374574320 rs1160464964	191	P>L		No	ClinGen gnomAD
rs1588111009 CA374574324	192	V>A		No	ClinGen Ensembl
CA5197129 rs761448636	192	V>L		No	ClinGen ExAC gnomAD
CA5197130 rs761448636	192	V>M		No	ClinGen ExAC gnomAD
CA198575308 rs377628510	193	Q>L		No	ClinGen ESP TOPMed gnomAD
rs369694632 CA5197132	194	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs141550105 CA5197131	194	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197133 rs767704452	198	F>L		No	ClinGen ExAC gnomAD
CA374574370 rs1370898367	199	S>N		No	ClinGen TOPMed gnomAD
CA374574367 rs1478790147	199	S>R		No	ClinGen Ensembl
rs1055337068 CA198575341	200	S>*		No	ClinGen TOPMed
CA5197134 rs753071171	200	S>P		No	ClinGen ExAC
rs754311431 CA198575369	203	L>P		No	ClinGen gnomAD
CA374574402 rs1203183591	204	P>R		No	ClinGen TOPMed
rs764627587 CA5197137	204	P>T		No	ClinGen ExAC gnomAD
TCGA novel	205	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374574409 rs1442658865	205	L>R		No	ClinGen gnomAD
rs1180634581 CA374574411	206	W>R		No	ClinGen gnomAD
rs1231594603 CA374574422	207	A>D		No	ClinGen gnomAD
rs1251896305 CA374574435	209	S>P		No	ClinGen TOPMed
rs186534707 COSM243417 CA5197141	210	E>K	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs758663749 CA5197142	211	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746865234 CA5197144	213	P>S		No	ClinGen ExAC gnomAD
CA5197146 rs768680450	214	Q>*		No	ClinGen ExAC gnomAD
CA5197145 rs768680450	214	Q>E		No	ClinGen ExAC gnomAD
CA5197147 rs748114271	214	Q>R		No	ClinGen ExAC gnomAD
rs539945190 CA198575459	216	L>V		No	ClinGen Ensembl
rs1564411068 CA374574480	217	L>M		No	ClinGen Ensembl
rs755478543 CA5197150	217	L>P		No	ClinGen ExAC gnomAD
rs1288707193 CA374574484	218	K>Q		No	ClinGen gnomAD
CA5197151 rs200549177	219	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200549177 CA374574492	219	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1049547399 CA198576132	221	L>*		No	ClinGen Ensembl
COSM357118 CA5197177 rs762216326	223	G>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs1328342749 CA374574534	224	G>R		No	ClinGen TOPMed
CA374574545 rs1191123480	225	K>R		No	ClinGen gnomAD
rs375387134 CA5197178	229	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5197179 rs368689694	229	L>P		No	ClinGen ESP ExAC gnomAD
CA374574603 rs1422494821	233	M>I		No	ClinGen gnomAD
rs1452108172 CA374574598	233	M>V		No	ClinGen TOPMed
rs755255479 CA5197183	235	I>M		No	ClinGen ExAC gnomAD
CA5197182 rs551801116	235	I>T		No	ClinGen 1000Genomes ExAC
CA198576172 rs1008137038	235	I>V		No	ClinGen Ensembl
rs781076077 CA5197184	237	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA198576186 rs866292730	237	L>M		No	ClinGen gnomAD
CA374574639 rs1315677385	239	M>L		No	ClinGen gnomAD
CA5197185 rs147595352	241	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5197187 rs777818445	243	N>S		No	ClinGen ExAC gnomAD
rs755999475 CA5197186	243	N>Y		No	ClinGen ExAC gnomAD
rs1407865347 CA374574678	244	L>F		No	ClinGen TOPMed
CA5197188 rs749207190	244	L>P		No	ClinGen ExAC gnomAD
rs778399315 CA5197190	245	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770388466 CA5197189	245	P>S		No	ClinGen ExAC gnomAD
TCGA novel	246	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5197191 rs745469839	250	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5197193 rs776857944	250	R>Q		No	ClinGen ExAC gnomAD
rs762276425 CA374574723	251	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5197194 rs762276425	251	P>T		No	ClinGen ExAC TOPMed gnomAD
VAR_061597 rs41313331 CA5197195	252	D>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763396807 CA5197197	253	S>R		No	ClinGen ExAC gnomAD
rs773715977 CA5197196	253	S>T		No	ClinGen ExAC TOPMed gnomAD
rs766500320 CA5197198	255	I>T		No	ClinGen ExAC gnomAD
rs1189371227 CA374574817	258	K>E		No	ClinGen gnomAD
CA198576264 rs1031980741	259	M>I		No	ClinGen Ensembl
TCGA novel	259	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5197199 rs147812340	261	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA374574908 rs1564412506	263	I>T		No	ClinGen Ensembl
rs1156708030 CA374574900	263	I>V		No	ClinGen TOPMed gnomAD
rs1588112125 CA374574920	264	H>P		No	ClinGen Ensembl
rs201657547 CA5197200	264	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs148905915 CA5197202	265	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1104237 CA5197203 rs755891099	265	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs148905915 CA374574932	265	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374574950 rs1397356006	266	L>F		No	ClinGen TOPMed gnomAD
CA374574980 rs1237576981	268	L>P		No	ClinGen gnomAD
rs763827480 CA5197205	269	E>*		No	ClinGen ExAC TOPMed gnomAD
rs763827480 CA5197204	269	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM3763551 rs111748634 CA5197229	271	P>A	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs201215268 CA5197230	274	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5197231 rs746600411	274	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5197232 rs151254029	276	P>S		No	ClinGen ESP ExAC gnomAD
CA374575621 rs1265416414	277	E>V		No	ClinGen gnomAD
CA5197233 rs200902357	278	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5197234 rs749735235	278	R>H		No	ClinGen ExAC TOPMed gnomAD
rs571864386 CA5197235	280	K>R		No	ClinGen 1000Genomes
rs1407331139 CA374575694	281	K>T		No	ClinGen TOPMed
rs1197266068 CA374575709	282	L>S		No	ClinGen Ensembl
rs774951478 CA5197239	283	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1199889759 CA374575752	284	N>K		No	ClinGen gnomAD
CA5197240 rs746409820	284	N>Y		No	ClinGen ExAC gnomAD
CA5197242 rs772124466	287	T>A		No	ClinGen ExAC TOPMed gnomAD
rs775446349 CA5197243	288	E>G		No	ClinGen ExAC gnomAD
CA374575825 rs1260366171	289	G>C		No	ClinGen gnomAD
rs780870570 CA5197256	289	G>V		No	ClinGen ExAC TOPMed gnomAD
CA374575908 rs1564414419	291	R>G		No	ClinGen Ensembl
CA5197258 rs757656424	292	K>Q		No	ClinGen ExAC gnomAD
CA5197262 rs779425987	293	Q>*		No	ClinGen ExAC
TCGA novel	295	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA198577307 rs868823418	296	R>Q		No	ClinGen Ensembl
CA5197264 rs772513539	296	R>W		No	ClinGen ExAC TOPMed gnomAD
rs780181921 CA5197270	297	Q>K		No	ClinGen ExAC gnomAD
CA5197271 rs747102171	297	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1588113380 CA374576044	298	Q>R		No	ClinGen Ensembl
CA5197273 rs776781582	299	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs191493809 CA5197272	299	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs140460592 CA5197274	300	Q>R		No	ClinGen ESP ExAC gnomAD
CA374576165 COSM279488 rs1356197164	305	K>N	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs769507026 CA5197275	305	K>Q		No	ClinGen ExAC gnomAD
CA5197276 rs773000641	306	K>N		No	ClinGen ExAC gnomAD
rs1588113425 CA374576191	307	V>G		No	ClinGen Ensembl
rs1588113437 CA374576225	309	T>K		No	ClinGen Ensembl
rs766294427 CA198577391	311	I>L		No	ClinGen ExAC gnomAD
rs766294427 CA5197278	311	I>V		No	ClinGen ExAC gnomAD
CA374576277 rs1325563982	313	K>T		No	ClinGen gnomAD
rs781250277 CA5197291	315	E>K		No	ClinGen ExAC gnomAD
CA5197293 rs145630336	321	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1259056162 CA374576520	322	S>N		No	ClinGen TOPMed
rs1564415201 CA374576552	323	D>G		No	ClinGen Ensembl
CA198577656 rs962962889	326	I>T		No	ClinGen TOPMed gnomAD
CA5197295 rs772986146	327	Q>H		No	ClinGen ExAC gnomAD
CA5197294 rs138361218	327	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411624958 CA374576659	329	T>P		No	ClinGen gnomAD
CA5197296 rs745638713	331	H>N		No	ClinGen ExAC gnomAD
CA5197298 rs142848142	331	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197297 rs545206014	331	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA198577724 rs745638713	331	H>Y		No	ClinGen ExAC gnomAD
CA198577773 rs1046346449	335	V>L		No	ClinGen Ensembl
rs267602092 CA198577775	336	T>I		No	ClinGen Ensembl
COSM1496990 rs145109883 CA5197302	338	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA374576801 rs1354923753	339	H>R		No	ClinGen TOPMed
rs1468208005 CA374576816	340	D>G		No	ClinGen TOPMed
rs763882417 CA5197303	340	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5197305 rs771894456	341	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5197306 rs573828696	341	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs751941724 CA5197307	342	L>V		No	ClinGen ExAC gnomAD
CA374577078 rs1357696526	350	G>R		No	ClinGen TOPMed
CA374577169 rs1456275077	355	M>K		No	ClinGen gnomAD
rs768051136 CA5197327	356	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA374577216 rs1317868785	357	Q>*		No	ClinGen gnomAD
CA5197329 rs752751913	358	Q>*		No	ClinGen ExAC gnomAD
CA5197330 rs756135659	359	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1339042478 CA374577294	360	Q>P		No	ClinGen gnomAD
rs749414753 CA5197332	361	M>I		No	ClinGen ExAC gnomAD
rs777938353 CA5197331	361	M>V		No	ClinGen ExAC gnomAD
TCGA novel	364	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374577386 rs1299774766	364	G>R		No	ClinGen gnomAD
CA5197334 rs778569194	365	T>I		No	ClinGen ExAC gnomAD
CA5197335 rs745717115	366	T>I		No	ClinGen ExAC gnomAD
CA5197336 rs745717115	366	T>S		No	ClinGen ExAC gnomAD
COSM175482 rs538217577 CA5197338	367	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs538217577 CA5197337	367	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5197340 rs776216123	369	Q>*		No	ClinGen ExAC gnomAD
rs143283507 CA5197355	372	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197354 rs780002880	372	T>S		No	ClinGen ExAC TOPMed gnomAD
CA374577696 rs1213172346	374	R>G		No	ClinGen TOPMed
CA374577719 rs1174695693	376	K>E		No	ClinGen gnomAD
CA374577745 rs1488788838	377	M>I		No	ClinGen Ensembl
rs746495192 CA5197356	378	N>D		No	ClinGen ExAC TOPMed gnomAD
rs747731814 CA5197358	378	N>K		No	ClinGen ExAC gnomAD
rs111841972 CA5197357 COSM3763552	378	N>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs769307499 CA5197359	379	Y>C		No	ClinGen ExAC gnomAD
rs772870167 CA5197360	380	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs577430418 CA5197361	381	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5197362 rs200230637	382	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA374577784 rs775890908	383	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1045106218 CA198580303	383	A>T		No	ClinGen TOPMed
COSM1730364 rs775890908 CA5197363	383	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs373582633 CA198580318	384	D>N		No	ClinGen ESP TOPMed gnomAD
CA374577796 rs1234227870	385	F>S		No	ClinGen gnomAD
rs780986577 CA198580320	388	S>G		No	ClinGen gnomAD
rs1341167246 CA374577820	388	S>I		No	ClinGen gnomAD
CA374577836 rs1202698984	390	K>N		No	ClinGen gnomAD
CA374577833 rs1564419718	390	K>R		No	ClinGen Ensembl
rs571162344 CA198580331	391	S>C		No	ClinGen gnomAD
rs1564420114 CA374578185	391	S>R		No	ClinGen Ensembl
CA374578226 rs1163263053	394	L>M		No	ClinGen gnomAD
CA5197382 rs774509229	395	Y>C		No	ClinGen ExAC gnomAD
rs1319893115 CA374578325	399	P>L		No	ClinGen gnomAD
CA5197384 rs777159283	401	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5197385 rs117243015	402	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA198580488 rs966330254	403	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	406	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866012526 CA198580495	408	V>G		No	ClinGen Ensembl
rs765306455 CA5197386	408	V>M		No	ClinGen ExAC gnomAD
rs75476466 CA5197388	410	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374578524 rs1323392367	412	P>L		No	ClinGen TOPMed gnomAD
rs1463316620 CA374578546	414	A>G		No	ClinGen gnomAD
TCGA novel	414	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374578543 rs1266879599	414	A>T		No	ClinGen TOPMed gnomAD
rs766745816 CA5197389	415	Q>R		No	ClinGen ExAC gnomAD
rs751374928 CA5197390	417	A>S		No	ClinGen ExAC TOPMed gnomAD
rs952183507 CA198580513	418	R>G		No	ClinGen TOPMed
CA374578591 rs1180438627	418	R>S		No	ClinGen gnomAD
rs1416595880 CA374578605	419	Q>L		No	ClinGen gnomAD
CA374578603 rs1416595880	419	Q>R		No	ClinGen gnomAD
TCGA novel	420	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	423	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767246402 CA5197393	429	I>F		No	ClinGen ExAC gnomAD
rs1358753682 CA374578791	430	M>I		No	ClinGen gnomAD
rs1321442224 CA374578790	430	M>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5197394 rs752612810	431	A>V		No	ClinGen ExAC gnomAD
CA5197395 rs756018087	432	S>N		No	ClinGen ExAC gnomAD
CA5197396 rs777262140	432	S>R		No	ClinGen ExAC
CA5197397 rs748836938	433	T>I		No	ClinGen ExAC gnomAD
rs1233815392 CA374578813	434	G>D		No	ClinGen gnomAD
CA5197398 rs756883051	443	R>T		No	ClinGen ExAC gnomAD
CA198580550 rs909654166	446	Q>H		No	ClinGen TOPMed
CA198580556 rs947792389	447	D>A		No	ClinGen TOPMed
CA374578987 rs201837409	447	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA374578973 rs1229645347	447	D>H		No	ClinGen gnomAD
rs1354214393 CA374578992	448	T>A		No	ClinGen TOPMed
rs895536099 CA198580563 CA374579017	449	D>E		No	ClinGen gnomAD
rs140407932 CA5197403	450	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769000529 CA5197401	450	D>H		No	ClinGen ExAC gnomAD
rs140407932 CA5197402	450	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5197404 rs191242384	453	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1588117016 CA374579106	455	D>A		No	ClinGen Ensembl
CA374579108 rs1588117016	455	D>G		No	ClinGen Ensembl
CA374579097 rs1238392956	455	D>N		No	ClinGen gnomAD
CA374579120 rs1473627799	456	Q>*		No	ClinGen gnomAD
rs1564420829 CA374579124	456	Q>R		No	ClinGen Ensembl
rs1455139538 CA374579157	458	S>F		No	ClinGen TOPMed
CA5197407 rs41276815	459	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564420901 CA374579174	460	A>T		No	ClinGen Ensembl
rs1379200716 CA374579221	462	E>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q8TAL5

No regional properties for Q8TAL5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8TAL5

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

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
MDLPDESQWD	ETTCGLAVCQ	HPQCWATIRR	IERGHPRILG	SSCKTPLDAE	DKLPVLTVVD
70	80	90	100	110	120
ILDSGFAAHH	LPECTFTKAH	SLLSQSSKFY	SKFHGRPPKG	LPDKSLINCT	NRLPKFPVLN
130	140	150	160	170	180
LNETQLPCPE	DVRNMVVLWI	PEETEIHVSQ	HGKKKRKNSA	VKSKSFLGLS	GNQSAGTRVG
190	200	210	220	230	240
TPGMIVPPPT	PVQLSEQFSS	DFLPLWAQSE	ALPQDLLKEL	LPGGKQTMLC	PEMKIKLAMM
250	260	270	280	290	300
KKNLPLEKNR	PDSVISSKMF	LSIHRLTLER	PALRYPERLK	KLHNLKTEGY	RKQQQRQQQQ
310	320	330	340	350	360
QQQQKKVKTP	IKKQEAKKKA	KSDPGIQSTS	HKHPVTTVHD	RLYGYRTLPG	QNSDMKQQQQ
370	380	390	400	410	420
MEKGTTSKQD	STERPKMNYY	DHADFHHSVK	SPELYETEPT	NKDISAPVDA	VPEAQAARQK
430	440	450	460
KISFNFSEIM	ASTGWNSELK	LLRILQDTDD	EDEEDQSSGA	E