AiPD: Autoinhibited Protein Database

Q9BTV7

Gene name	CABLES2 (C20orf150)
Protein name	CDK5 and ABL1 enzyme substrate 2
Names	Interactor with CDK3 2, Ik3-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81928
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

62-141 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

62-141 (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 Q9BTV7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BTV7-F1	Predicted				AlphaFoldDB

403 variants for Q9BTV7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA409556080 rs1555891472	3	A>G		No	ClinGen Ensembl
rs985357978 CA317275449	3	A>P		No	ClinGen TOPMed
rs924966606 CA317275444	4	A>T		No	ClinGen TOPMed
CA409556070 rs1222512037	4	A>V		No	ClinGen TOPMed
rs966430580 CA317275436	5	A>V		No	ClinGen TOPMed gnomAD
CA317275433 rs1020690890	7	G>A		No	ClinGen TOPMed
rs1384379941 CA409556045	7	G>R		No	ClinGen TOPMed gnomAD
rs1384379941 CA409556047	7	G>S		No	ClinGen TOPMed gnomAD
CA409556039 rs1020690890	7	G>V		No	ClinGen TOPMed
CA317275432 rs1013772123	8	G>R		No	ClinGen TOPMed
rs1463043427 CA409556023	9	A>S		No	ClinGen TOPMed
rs1463043427 CA409556025	9	A>T		No	ClinGen TOPMed
rs1468540907 CA409556013	10	P>A		No	ClinGen TOPMed gnomAD
rs1365270055 CA409556006	10	P>L		No	ClinGen TOPMed gnomAD
CA409556010 rs1365270055	10	P>Q		No	ClinGen TOPMed gnomAD
CA409556008 rs1365270055	10	P>R		No	ClinGen TOPMed gnomAD
rs1468540907 CA409556012	10	P>S		No	ClinGen TOPMed gnomAD
rs1468540907 CA409556015	10	P>T		No	ClinGen TOPMed gnomAD
CA409556004 rs1271585501	11	G>R		No	ClinGen TOPMed
CA409555986 rs1250790930	12	P>L		No	ClinGen TOPMed gnomAD
rs1250790930 CA409555988	12	P>R		No	ClinGen TOPMed gnomAD
rs1002455567 CA317275410	12	P>S		No	ClinGen TOPMed gnomAD
rs887809337 CA317275407	13	A>D		No	ClinGen TOPMed gnomAD
rs1214988701 CA409555980	13	A>S		No	ClinGen TOPMed gnomAD
rs887809337 CA409555976	13	A>V		No	ClinGen TOPMed gnomAD
CA409555972 rs1392401188	14	P>A		No	ClinGen TOPMed
CA409555968 rs1282980827	14	P>L		No	ClinGen gnomAD
rs1392401188 CA409555974	14	P>T		No	ClinGen TOPMed
rs1306865251 CA409555960	15	G>R		No	ClinGen TOPMed
CA317275391 rs993437583	16	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	16	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897926945 CA317275377	17	A>T		No	ClinGen TOPMed
rs1337626794 CA409555924	18	G>E		No	ClinGen TOPMed
CA409555928 rs1286344895	18	G>R		No	ClinGen TOPMed
CA317275368 rs943878486	20	P>S		No	ClinGen TOPMed
CA409555887 rs1255275668	22	P>A		No	ClinGen TOPMed
rs1327552563 CA409555875	23	A>D		No	ClinGen TOPMed
rs1397827980 CA409555879	23	A>T		No	ClinGen TOPMed
rs912397668 CA317275356	25	P>A		No	ClinGen TOPMed
rs1050143512 CA317275352	25	P>R		No	ClinGen TOPMed
CA317275349 rs981469111	26	T>P		No	ClinGen Ensembl
rs1431147512 CA409555834	27	S>W		No	ClinGen TOPMed
rs1402059310 CA409555810	29	A>V		No	ClinGen TOPMed
CA409555780 rs1325865911	32	P>L		No	ClinGen gnomAD
rs1298666825 CA409555774	33	P>S		No	ClinGen TOPMed
rs979108950 CA317275332	37	R>G		No	ClinGen TOPMed
rs1471663725 CA409555732	39	R>L		No	ClinGen gnomAD
rs1232123760 CA409555728	40	G>W		No	ClinGen TOPMed
rs1182332496 CA409555717	41	D>E		No	ClinGen TOPMed gnomAD
CA409555709 rs1201035653	43	R>W		No	ClinGen TOPMed
CA409555705 rs1439003863	44	R>C		No	ClinGen gnomAD
CA409555701 rs913659156	44	R>H		No	ClinGen TOPMed gnomAD
CA317275328 rs913659156	44	R>L		No	ClinGen TOPMed gnomAD
CA317275324 rs868316661	45	R>L		No	ClinGen TOPMed gnomAD
CA409555691 rs1171135074	46	Q>R		No	ClinGen TOPMed
CA409555685 rs1468555641	47	A>S		No	ClinGen gnomAD
CA9945297 rs755759738	51	F>V		No	ClinGen ExAC
rs1433917999 CA409555645	53	N>S		No	ClinGen gnomAD
rs1174884520 CA409555639	54	N>D		No	ClinGen TOPMed
rs1383229550 CA409555635	54	N>I		No	ClinGen TOPMed
CA409555631 rs1434874404	55	I>V		No	ClinGen TOPMed
CA409555620 rs1300676886	56	S>F		No	ClinGen TOPMed
CA409555610 rs1233855560	58	D>G		No	ClinGen TOPMed
CA409555614 rs1312909504	58	D>N		No	ClinGen TOPMed
rs1257729819 CA409555592	61	P>H		No	ClinGen TOPMed
rs867698105 CA409555585	62	P>L		No	ClinGen TOPMed
CA317275313 rs867698105	62	P>Q		No	ClinGen TOPMed
CA409555589 rs1327037129	62	P>S		No	ClinGen TOPMed
CA409555582 rs1465921472	63	S>G		No	ClinGen TOPMed
rs1393060383 CA409555564	65	G>S		No	ClinGen TOPMed gnomAD
rs1433312246 CA409555545	66	P>L		No	ClinGen TOPMed
CA409555549 rs1195068883	66	P>S		No	ClinGen TOPMed gnomAD
rs1478153749 CA409555543	67	G>S		No	ClinGen TOPMed gnomAD
rs1002893390 CA317275303	69	E>K		No	ClinGen TOPMed
rs1457193637 CA409555506	70	K>E		No	ClinGen TOPMed
rs952349966 CA317275297	71	P>T		No	ClinGen TOPMed gnomAD
rs184691263 CA9945296	72	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA317275290 rs993468645	74	P>L		No	ClinGen TOPMed gnomAD
rs1281621849 CA409555445	75	P>H		No	ClinGen gnomAD
rs1210827236 CA409555440	76	A>S		No	ClinGen TOPMed gnomAD
rs897793136 CA317275273	81	P>L		No	ClinGen TOPMed
rs1346124022 CA409555316	87	P>A		No	ClinGen gnomAD
rs1241412064 CA409555312	87	P>Q		No	ClinGen gnomAD
rs1601481474 CA409555281	90	P>A		No	ClinGen Ensembl
CA409555258 rs1218894451	92	G>R		No	ClinGen TOPMed
CA409555251 rs1601481463	92	G>V		No	ClinGen Ensembl
CA409555237 rs1307778960	94	P>S		No	ClinGen gnomAD
CA409555228 rs1264529319	95	A>S		No	ClinGen TOPMed
rs1488618643 CA409555222	95	A>V		No	ClinGen TOPMed
rs1443127261 CA409555206	97	T>A		No	ClinGen gnomAD
CA409555199 rs1331782257	97	T>I		No	ClinGen TOPMed gnomAD
rs1403803929 CA409555184	99	A>S		No	ClinGen TOPMed gnomAD
CA409555178 rs1387506427	99	A>V		No	ClinGen gnomAD
rs1418926315 CA409555170	100	P>L		No	ClinGen gnomAD
rs1195458071 CA409555156	101	Q>L		No	ClinGen gnomAD
rs1195458071 CA409555157	101	Q>P		No	ClinGen gnomAD
rs1196201362 CA409555122	104	L>F		No	ClinGen gnomAD
CA409555102 rs763440011	105	S>R		No	ClinGen ExAC TOPMed gnomAD
rs568248844 CA409555065	107	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568248844 CA9945290	107	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770166252 CA9945289	108	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA409555053 rs770166252	108	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA409555019 rs1284450738	110	P>S		No	ClinGen gnomAD
rs748351072 CA9945288	111	T>N		No	ClinGen ExAC gnomAD
CA317275215 rs932452414	113	L>F		No	ClinGen TOPMed
TCGA novel	115	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409554916 rs1434453814	117	G>R		No	ClinGen gnomAD
rs1226356588 CA409554890	118	Q>H		No	ClinGen TOPMed
CA409554867 rs1299058493	120	Q>*		No	ClinGen TOPMed gnomAD
rs199509900 CA9945262	123	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9945261 rs774214864	123	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs913025341 CA317262963	125	T>M		No	ClinGen gnomAD
rs375247829 CA9945259	127	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401011448 CA409553015	128	R>G		No	ClinGen gnomAD
CA9945258 rs555344970	128	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA409552956 rs757856217	136	D>E		No	ClinGen ExAC gnomAD
rs200510635 CA9945253	138	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9945252 rs762212350	139	G>R		No	ClinGen ExAC gnomAD
CA409552940 rs1423656050	139	G>V		No	ClinGen TOPMed gnomAD
CA9945250 rs200977696	141	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409552927 rs1198061759	141	A>V		No	ClinGen TOPMed gnomAD
CA409552925 rs1210543454	142	P>S		No	ClinGen TOPMed
CA409552911 rs1456516154	144	Q>L		No	ClinGen gnomAD
CA9945207 rs755270357	146	T>I		No	ClinGen ExAC TOPMed gnomAD
CA317262560 rs755270357	146	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1196122176 CA409552864	148	H>R		No	ClinGen gnomAD
rs1370406687 CA409552832	150	S>F		No	ClinGen TOPMed
CA409552846 rs1262191709	150	S>P		No	ClinGen gnomAD
rs766506219 CA9945205	151	G>E		No	ClinGen ExAC gnomAD
rs371230015 COSM1247059 CA317262545	153	P>L	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA9945204 rs182928742	153	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs764087406 CA9945202	155	H>L		No	ClinGen ExAC gnomAD
rs1601474111 CA409552706	157	G>D		No	ClinGen Ensembl
CA9945200 rs775302055	159	K>N		No	ClinGen ExAC gnomAD
rs771723662 CA409552634	161	T>I		No	ClinGen ExAC gnomAD
rs771723662 CA9945199	161	T>N		No	ClinGen ExAC gnomAD
rs1465550696 CA409552618	162	H>R		No	ClinGen gnomAD
CA409552625 rs1303965350	162	H>Y		No	ClinGen gnomAD
CA409552573 rs1376011738	165	K>E		No	ClinGen gnomAD
CA409552551 rs1172989477	166	N>H		No	ClinGen gnomAD
CA317262492 rs939378311	166	N>K		No	ClinGen TOPMed gnomAD
rs41284974 CA9945198	167	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409552532 rs1451057881	167	M>V		No	ClinGen TOPMed
rs773813601 CA9945197	168	R>K		No	ClinGen ExAC gnomAD
CA409552454 rs202000885	170	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9945194 rs777404967	172	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1259412694 CA409552400	173	R>S		No	ClinGen gnomAD
rs748637399 CA9945189	175	S>C		No	ClinGen ExAC gnomAD
rs748637399 CA409552363	175	S>G		No	ClinGen ExAC gnomAD
CA9945188 rs781646273	175	S>N		No	ClinGen ExAC gnomAD
rs772954205 CA9945154	178	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9945152 rs761161808	179	L>V		No	ClinGen ExAC
rs1438751705 CA409551510	181	C>F		No	ClinGen gnomAD
CA409551507 rs1445209474	182	A>T		No	ClinGen TOPMed
rs1165234593 CA409551497	183	K>R		No	ClinGen TOPMed
rs373241073 CA9945148	184	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1028894 rs747530163 CA9945149	184	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9945146 rs746103333	187	C>R		No	ClinGen ExAC TOPMed gnomAD
rs141752965 CA9945145	188	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757461175 CA9945144	188	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1196307487 CA409551457	190	F>C		No	ClinGen TOPMed gnomAD
rs1489944612 CA409551449	191	S>L		No	ClinGen gnomAD
CA409551444 rs1217888126	192	V>F		No	ClinGen TOPMed gnomAD
rs1217888126 CA409551446	192	V>I		No	ClinGen TOPMed gnomAD
CA9945140 rs150535079	195	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA317261233 rs150535079	195	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9945141 rs573945287	195	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758213967 CA9945138	196	G>E		No	ClinGen ExAC gnomAD
rs369586037 CA317261216	198	G>D		No	ClinGen ESP TOPMed
CA9945136 rs373923225	200	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9945135 rs373923225	200	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9945137 rs375112262	200	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs906483351 CA317261192	201	I>F		No	ClinGen TOPMed
rs1343317562 CA409551396	201	I>T		No	ClinGen gnomAD
CA317260394 rs1015771315	205	R>T		No	ClinGen Ensembl
CA409551350 rs1291752792	207	D>N		No	ClinGen gnomAD
CA409551328 rs774735184	209	Q>H		No	ClinGen ExAC gnomAD
CA9945109 rs771284501	211	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1226934537 CA409551312	211	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs763108229 CA409551311	212	R>G		No	ClinGen ExAC TOPMed gnomAD
CA409551302 rs1601472617	213	H>P		No	ClinGen Ensembl
CA9945107 rs773429550	213	H>Y		No	ClinGen ExAC gnomAD
CA409551296 rs1330199477	214	P>A		No	ClinGen gnomAD
COSM1247058 CA317260376 rs890242719	214	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs202116054 CA9945105	216	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141754801 CA9945103	217	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745770793 CA9945102	218	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1195669175 CA409551267	219	S>C		No	ClinGen TOPMed gnomAD
rs1242427088	219	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9945101 rs778885001	220	V>L		No	ClinGen ExAC gnomAD
CA409551265 rs778885001	220	V>M		No	ClinGen ExAC gnomAD
CA409551255 rs1238848513	221	S>F		No	ClinGen gnomAD
rs1176752607 CA409551253	222	S>P		No	ClinGen TOPMed gnomAD
CA9945098 rs777548833	223	E>K		No	ClinGen ExAC TOPMed gnomAD
CA409551247 rs777548833	223	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs755704697 CA9945097	223	E>V		No	ClinGen ExAC gnomAD
rs1569015490 CA409551236	224	M>I		No	ClinGen Ensembl
CA317260322 rs1053678931	224	M>V		No	ClinGen Ensembl
CA409551220 rs1242241335	227	E>K		No	ClinGen gnomAD
CA409551211 rs1484011512	228	L>V		No	ClinGen gnomAD
rs1354409332 CA409551206	229	E>Q		No	ClinGen gnomAD
CA9945095 rs766979508	232	E>K		No	ClinGen ExAC gnomAD
CA409551131 rs1425363349	235	A>V		No	ClinGen TOPMed
rs760064871 CA409551118	236	D>E		No	ClinGen ExAC TOPMed gnomAD
CA409551120 rs1369226029	236	D>V		No	ClinGen TOPMed gnomAD
rs1407473396 CA409551093	238	K>R		No	ClinGen TOPMed
rs765488829 CA9945071	240	V>M		No	ClinGen ExAC gnomAD
rs776946463 CA9945069	243	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	244	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368640508 CA9945067	246	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409550147 rs1220804567	246	L>P		No	ClinGen gnomAD
CA409550111 rs1295417511	248	P>L		No	ClinGen gnomAD
CA9945066 rs775419347	248	P>S		No	ClinGen ExAC TOPMed gnomAD
rs147017711 CA9945065	249	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9945063 rs200257257	251	A>T		No	ClinGen ExAC TOPMed gnomAD
CA409549980 rs1157812283	255	H>Y		No	ClinGen TOPMed
CA409549926 rs1469375390	258	D>N		No	ClinGen gnomAD
TCGA novel	264	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9945058 rs746591913	265	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779409851 CA9945057	266	P>T		No	ClinGen ExAC gnomAD
CA9945055 rs138893645	267	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370103781 CA9945056	267	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs972724624 CA317259429	268	P>R		No	ClinGen TOPMed
CA9945054 rs765658613	268	P>S		No	ClinGen ExAC gnomAD
rs1601472223 CA409549778	271	P>T		No	ClinGen Ensembl
rs757627316 CA409549767	272	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9945052 rs143243918	272	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143243918 CA9945051	272	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9945053 rs757627316	272	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1323978648 CA409549749	274	L>P		No	ClinGen TOPMed gnomAD
rs1185111936 CA409549744 COSM1028892	275	P>S	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs760953162 CA9945050	276	G>W		No	ClinGen ExAC gnomAD
CA9945048 rs375624937	277	S>*		No	ClinGen ESP ExAC TOPMed
CA9945049 rs41284972	277	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772962793 CA9945046	279	H>Y		No	ClinGen ExAC gnomAD
CA409549714 rs1447795095	280	K>T		No	ClinGen gnomAD
CA409549700 rs1396098139	282	A>D		No	ClinGen TOPMed gnomAD
CA409549699 rs1396098139	282	A>G		No	ClinGen TOPMed gnomAD
CA409549698 rs1396098139	282	A>V		No	ClinGen TOPMed gnomAD
CA9945045 rs769583416	283	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748004904 CA9945044	284	T>A		No	ClinGen ExAC gnomAD
rs1038431977 COSM1307596 CA317259361	286	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs768347161 CA9945042	287	A>P		No	ClinGen ExAC gnomAD
CA409549674 rs768347161	287	A>T		No	ClinGen ExAC gnomAD
rs1367530062 CA409549670	287	A>V		No	ClinGen TOPMed
rs779649559 CA9945040	288	P>S		No	ClinGen ExAC gnomAD
CA9945039 rs145291451	289	A>V		No	ClinGen ESP ExAC gnomAD
CA9945037 rs779628073	290	S>N		No	ClinGen ExAC gnomAD
CA9945038 rs746402060	290	S>R		No	ClinGen ExAC gnomAD
rs754299913 CA9945035 CA9945036	290	S>R		No	ClinGen ExAC TOPMed gnomAD
rs774025150 CA9945003	294	G>E		No	ClinGen ExAC gnomAD
TCGA novel	294	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601471939 CA409549597	297	V>G		No	ClinGen Ensembl
CA9944999 rs150007624	297	V>M	Variant assessed as Somatic; 0.0002315 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA409549594 rs1165764506	298	G>R		No	ClinGen TOPMed
CA409549592 rs1569015037	298	G>V		No	ClinGen Ensembl
CA409549567 rs1239675972	302	E>K		No	ClinGen TOPMed gnomAD
rs1601471927 CA409549549	304	N>T		No	ClinGen Ensembl
rs1429937106 CA409549540	305	P>R		No	ClinGen gnomAD
rs1404846379 CA409549517	309	D>H		No	ClinGen gnomAD
rs758418477 CA9944993	311	P>L	Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409549479 rs1204268431	314	P>S		No	ClinGen Ensembl
CA9944990 rs756053952	316	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9944989 rs146853618	320	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9944988 rs377753672	320	R>H		No	ClinGen ExAC gnomAD
rs1322951663 CA409549430	321	V>A		No	ClinGen TOPMed
rs759284590 CA409549392	325	A>E		No	ClinGen ExAC TOPMed gnomAD
rs759284590 CA9944987	325	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9944985 rs765990633	326	S>L	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs998299167 CA317258650	328	M>V		No	ClinGen gnomAD
rs1490160277 CA409549299	329	T>N		No	ClinGen gnomAD
rs770984242 CA9944955	331	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409549264 rs1305743487	332	I>M		No	ClinGen gnomAD
rs1317001262 CA409549273	332	I>V		No	ClinGen gnomAD
rs748040117 CA409549235	334	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1044079708 CA317258157	335	V>M		No	ClinGen TOPMed gnomAD
rs1365457922 CA409549149	341	K>Q		No	ClinGen gnomAD
CA409549114 rs1158801422	343	D>H		No	ClinGen gnomAD
CA409549093 rs1301835562	344	M>T		No	ClinGen gnomAD
CA409549069 rs1345851738	346	E>K		No	ClinGen gnomAD
CA9944948 rs750044349	347	T>N		No	ClinGen ExAC TOPMed gnomAD
CA409549048 rs750044349	347	T>S		No	ClinGen ExAC TOPMed gnomAD
rs764670356 CA9944947	349	R>G		No	ClinGen ExAC gnomAD
CA9944945 rs753286424	350	E>D		No	ClinGen ExAC gnomAD
rs761324566 CA9944946 COSM3707910	350	E>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764646116 CA9944944	352	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	354	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9944941 rs772369022	354	H>Q		No	ClinGen ExAC gnomAD
rs761136183 CA9944942	354	H>R		No	ClinGen ExAC gnomAD
rs759686579 CA9944939	356	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA409548936 rs1325181858	356	K>R		No	ClinGen gnomAD
rs1224429771 CA409548910	359	L>M		No	ClinGen gnomAD
rs771053248 CA9944937	361	K>N		No	ClinGen ExAC gnomAD
rs929886876 CA317257952	363	R>K		No	ClinGen gnomAD
rs1569014528 CA409547716	366	K>*		No	ClinGen Ensembl
rs1197884558 CA409547703	366	K>N		No	ClinGen gnomAD
rs769945340 CA9944914	366	K>R		No	ClinGen ExAC gnomAD
CA409547700 rs746957337	367	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9944912 rs775505837	367	R>Q		No	ClinGen ExAC gnomAD
rs746957337 CA9944913	367	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1569014515 CA409547669	368	E>D		No	ClinGen Ensembl
CA9944910 rs745735762	368	E>Q		No	ClinGen ExAC gnomAD
rs778553140 CA9944908	369	M>T		No	ClinGen ExAC gnomAD
CA409547660 rs1569014512	369	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA409547640 rs756963039	370	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200810639 CA9944906	370	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756963039 CA9944907	370	R>W		No	ClinGen ExAC TOPMed gnomAD
rs755552145 CA9944904	372	L>P		No	ClinGen ExAC gnomAD
CA9944903 rs752198184	373	S>L		No	ClinGen ExAC TOPMed gnomAD
CA409547584 rs752198184	373	S>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751996005 CA409547518	376	C>W		No	ClinGen ExAC TOPMed gnomAD
CA9944898 rs766614146	380	P>H		No	ClinGen ExAC gnomAD
CA409547469 rs766614146	380	P>L		No	ClinGen ExAC gnomAD
CA9944896 rs61742254	381	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409547460 rs61742254	381	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9944895 rs765414889	382	T>M		No	ClinGen ExAC TOPMed gnomAD
CA409547386 rs1354346707	385	M>I		No	ClinGen gnomAD
rs776840076 CA9944893	385	M>T		No	ClinGen ExAC gnomAD
rs1293177002 CA409547397	385	M>V		No	ClinGen gnomAD
rs373616857 CA409547346	387	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9944891 rs773415363	388	V>M		No	ClinGen ExAC gnomAD
rs1193476536 CA409547323	389	Y>D		No	ClinGen TOPMed
CA409547281 rs1396082657	391	E>Q		No	ClinGen TOPMed
CA409547238 rs1335443631	394	V>I		No	ClinGen gnomAD
CA9944890 rs774215699	395	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	397	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409547145 rs770570446	399	L>H		No	ClinGen ExAC gnomAD
CA9944889 rs770570446	399	L>P		No	ClinGen ExAC gnomAD
rs1346027997 CA409547089	402	Q>E		No	ClinGen gnomAD
TCGA novel	402	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9944888 rs748940847	404	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148608970 CA9944887	404	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs148608970 CA317253259	404	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755750542 CA9944886	405	K>*		No	ClinGen ExAC gnomAD
COSM1412961 rs143971422 CA9944884	408	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1601470925 CA409546937	409	G>S		No	ClinGen Ensembl
CA9944881 rs766780171	410	A>T		No	ClinGen ExAC gnomAD
CA409546907 rs1481624342	411	C>R		No	ClinGen gnomAD
CA317253224 rs376503850	412	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9944879 rs376503850	412	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409546827 rs1601470909	416	A>G		No	ClinGen Ensembl
CA409546819 rs1569014434	417	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs762106674 CA9944876	418	I>M		No	ClinGen ExAC gnomAD
rs1039329951 CA317253192	418	I>V		No	ClinGen TOPMed
rs764028051 CA9944874	420	S>N		No	ClinGen ExAC gnomAD
CA9944875 rs764028051	420	S>T		No	ClinGen ExAC gnomAD
CA409546699 rs1266509625	423	R>C		No	ClinGen gnomAD
CA409546692 rs748439067	423	R>L		No	ClinGen TOPMed gnomAD
CA317253170 rs748439067	423	R>P		No	ClinGen TOPMed gnomAD
rs137984777 CA409546647	425	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9944872 rs779972278	426	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9944870 rs201701496	427	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6089219 VAR_026532 CA9944869	428	T>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1385901238 CA636611100	429	Q>LWDDFVSSPLIR*		No	ClinGen gnomAD
CA317253128 rs200996959	431	I>M		No	ClinGen ExAC TOPMed gnomAD
CA317253134 rs1013007126	431	I>T		No	ClinGen Ensembl
CA9944867 rs747757270	431	I>V		No	ClinGen ExAC gnomAD
CA409546540 rs767993157	432	D>H		No	ClinGen ExAC TOPMed gnomAD
rs767993157 CA9944865	432	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	432	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754223254 CA9944837	434	L>S		No	ClinGen ExAC TOPMed gnomAD
CA317252897 rs946398811	437	R>G		No	ClinGen TOPMed gnomAD
rs1330053623 CA409546293 COSM1177197	439	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409546286 rs1429640918	439	R>P		No	ClinGen TOPMed gnomAD
CA409546288 COSM1412960 rs1429640918	439	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1369267909 CA409546237	441	N>S		No	ClinGen gnomAD
CA409546223 rs1165504299	442	R>G		No	ClinGen gnomAD
rs756336623 CA9944834	444	D>N		No	ClinGen ExAC gnomAD
rs1312889162 CA409546153	445	L>V		No	ClinGen TOPMed
CA409546133 rs1569014327	446	I>T		No	ClinGen Ensembl
CA9944833 rs752757373	447	G>E		No	ClinGen ExAC gnomAD
rs752757373 CA409546103	447	G>V		No	ClinGen ExAC gnomAD
rs762899891 CA9944831	448	F>S		No	ClinGen ExAC TOPMed gnomAD
CA9944830 rs750303048	450	F>L		No	ClinGen ExAC gnomAD
rs1482006427 CA409545964	453	L>P		No	ClinGen TOPMed gnomAD
rs776476831 CA9944827	454	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409545925 rs1287202994	455	A>S		No	ClinGen gnomAD
rs760347786 CA9944825	456	L>S		No	ClinGen ExAC gnomAD
rs955944816 CA317252829	459	A>V		No	ClinGen Ensembl
CA409545826 rs1409632953	461	Y>H		No	ClinGen gnomAD
TCGA novel	462	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409545781 rs1347504970	462	L>P		No	ClinGen TOPMed
rs369535488 CA9944822	464	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9944821 rs775062048	465	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1425911189 CA409545732	465	N>S		No	ClinGen gnomAD
rs199572235 CA317252814	466	Q>E		No	ClinGen TOPMed gnomAD
rs200133603 CA9944820	466	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs749662209 CA9944819	467	V>A		No	ClinGen ExAC TOPMed gnomAD
CA409545710 rs1241484962	467	V>M		No	ClinGen TOPMed
CA409545688 rs1181144267	468	L>S		No	ClinGen gnomAD
CA317252797 rs375213613	469	P>A		No	ClinGen ESP
TCGA novel	470	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409545635 rs1488155304	471	Y>C		No	ClinGen gnomAD
TCGA novel	472	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9944816 rs751037345	473	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs576077601 COSM1028887 CA9944815	473	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA9944814 rs576077601	473	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs754984687 CA409545591	474	L>F		No	ClinGen ExAC gnomAD
rs754984687 CA9944813	474	L>I		No	ClinGen ExAC gnomAD
rs751635728 CA9944812	474	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1228106350 CA409545531	477	Q>H		No	ClinGen gnomAD
CA317252752 CA9944811 rs765219271	478	F>L		No	ClinGen ExAC gnomAD

No associated diseases with Q9BTV7

1 regional properties for Q9BTV7

Type	Name	Position	InterPro Accession
domain	Cyclin, N-terminal	367 - 460	IPR006671

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

3 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAAAAAGGAP	GPAPGPAGPP	PPAAPTSAAR	APPQALRRRG	DSRRRQAALF	FLNNISLDGR
70	80	90	100	110	120
PPSLGPGGEK	PPPPPAEARE	PPAPPPPEPP	TGLPARTPAP	QGLLSPTQVP	TGLGLDGQRQ
130	140	150	160	170	180
RKRVTSQRCS	LEFLEDAVGC	APAQRTKHTS	GSPRHKGLKK	THFIKNMRQY	DTRNSRIVLI
190	200	210	220	230	240
CAKRSLCAAF	SVLPYGEGLR	ISDLRVDSQK	QRHPSGGVSV	SSEMVFELEG	VELGADGKVV
250	260	270	280	290	300
SYAKFLYPTN	ALVTHKSDSH	GLLPTPRPSV	PRTLPGSRHK	PAPTKSAPAS	TELGSDVGDT
310	320	330	340	350	360
LEYNPNLLDD	PQWPCGKHKR	VLIFASYMTT	VIEYVKPSDL	KKDMNETFRE	KFPHVKLTLS
370	380	390	400	410	420
KIRSLKREMR	SLSEECSLEP	VTVAMAYVYF	EKLVLQGKLS	KQNRKLCAGA	CVLLAAKISS
430	440	450	460	470
DLRKSGVTQL	IDKLEERFRF	NRRDLIGFEF	TVLVALELAL	YLPENQVLPH	YRRLTQQF