AiPD: Autoinhibited Protein Database

Q9BSJ6

Gene name	PIMREG
Protein name	Protein PIMREG
Names	CALM-interactor expressed in thymus and spleen, PICALM-interacting mitotic regulator, Regulator of chromosome segregation protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54478
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

82-184 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

82-184 (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 Q9BSJ6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BSJ6-F1	Predicted				AlphaFoldDB

253 variants for Q9BSJ6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8328704 rs764915829	3	S>P		No	ClinGen ExAC gnomAD
CA8328706 rs566576406	4	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA287336613 rs566576406	4	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8328705 rs750058649	4	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1192167435 CA397398739	11	S>Y		No	ClinGen gnomAD
COSM179430 rs779599791 CA8328707	12	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1000834317 CA287336619	13	R>C		No	ClinGen TOPMed gnomAD
rs374481767 CA8328709	13	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374481767 CA8328708	13	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161537210 CA397398750	14	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748576011 CA8328711	14	R>W		No	ClinGen ExAC gnomAD
CA397398756 rs1466012139	15	R>T		No	ClinGen TOPMed
rs770254628 CA8328712	16	S>F		No	ClinGen ExAC gnomAD
rs1458187687 CA397398761	16	S>P		No	ClinGen gnomAD
CA287336639 rs12944305	17	L>F		No	ClinGen Ensembl
CA397398765 rs12944305	17	L>I		No	ClinGen Ensembl
CA8328713 rs778210436	19	H>Q		No	ClinGen ExAC
CA8328714 rs749512564	20	Q>E		No	ClinGen ExAC gnomAD
CA8328716 rs774421655	20	Q>H		No	ClinGen ExAC gnomAD
CA8328715 rs770930490	20	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs760561167 CA8328717	22	Q>E		No	ClinGen ExAC gnomAD
rs760561167 CA397398798	22	Q>K		No	ClinGen ExAC gnomAD
CA8328718 rs768529853	24	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1597348600 CA397398818	25	D>N		No	ClinGen Ensembl
rs538339231 CA8328720	26	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538339231 CA8328721	26	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8328722 rs765010759	27	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1000648363 CA287336668	27	K>R		No	ClinGen TOPMed gnomAD
CA397398842 rs762605666	28	E>D		No	ClinGen ExAC gnomAD
rs552031712 CA8328723	28	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8328725 rs765842685	29	L>V		No	ClinGen ExAC
CA287336679 rs754516528	30	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1460447169 CA397398850	30	Q>K		No	ClinGen gnomAD
rs1313771941 CA397398861	32	V>M		No	ClinGen Ensembl
TCGA novel	33	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597348629 CA397398874	34	S>G		No	ClinGen Ensembl
rs781774914 CA8328728	34	S>N		No	ClinGen ExAC gnomAD
CA8328729 rs753251571	34	S>R		No	ClinGen ExAC gnomAD
CA287336688 rs767498929	35	H>R		No	ClinGen Ensembl
rs756606281 CA8328730	38	T>A		No	ClinGen ExAC gnomAD
CA8328732 rs749475836	40	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8328731 rs146482733	40	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	41	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287336695 rs971409418	42	A>P		No	ClinGen TOPMed gnomAD
CA397398923 rs971409418	42	A>T		No	ClinGen TOPMed gnomAD
CA8328734 rs778881884	42	A>V		No	ClinGen ExAC gnomAD
CA8328737 rs776613529	45	S>T		No	ClinGen ExAC gnomAD
rs761722810 CA8328738	48	R>G		No	ClinGen ExAC gnomAD
CA8328739 rs769587443	48	R>K		No	ClinGen ExAC TOPMed gnomAD
CA287336708 rs1019664728	50	F>L		No	ClinGen Ensembl
CA397398991 rs1447222881	53	R>G		No	ClinGen TOPMed
rs1207392299 CA397399027 COSM983014	59	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs140937935 CA397399042	61	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8328741 rs140937935	61	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8328742 rs766109028	63	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8328743 rs773848161	64	R>C		No	ClinGen ExAC TOPMed gnomAD
CA397399060 rs773848161	64	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8328744 rs143072744	64	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8328745 rs143072744	64	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756624399 CA8328747	65	A>S		No	ClinGen ExAC TOPMed gnomAD
rs756624399 CA287336737	65	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8328748 rs202153214	65	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs754180364 CA8328749	66	G>R		No	ClinGen ExAC gnomAD
COSM983015 CA8328751 rs779235053	67	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8328752 rs536667515	68	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA397399077 rs1298058420	68	S>Y		No	ClinGen gnomAD
rs1349214684 CA397399086	69	W>*		No	ClinGen gnomAD
CA287336755 rs11538169	70	K>R		No	ClinGen Ensembl
rs11538170 CA8328753	71	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA287336759 rs985923035	73	E>G		No	ClinGen TOPMed gnomAD
CA397399131 rs1306350153	76	E>D		No	ClinGen gnomAD
rs1322388500 CA397399127	76	E>Q		No	ClinGen TOPMed gnomAD
CA397399136 rs1217191599	77	P>R		No	ClinGen gnomAD
CA287336762 rs553078680	77	P>S		No	ClinGen 1000Genomes
CA8328755 rs748078705	78	G>S		No	ClinGen ExAC gnomAD
rs1272345349 CA397399161	81	G>D		No	ClinGen gnomAD
CA8328756 rs769725124	81	G>S		No	ClinGen ExAC gnomAD
rs749152070 CA8328758	83	Q>R		No	ClinGen ExAC TOPMed gnomAD
COSM473218 CA8328759 rs151147808	84	A>T	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA287336778 rs984879215	85	A>G		No	ClinGen Ensembl
rs1308921764 CA397399190	86	A>V		No	ClinGen gnomAD
CA397399195 rs1189634352	87	R>C		No	ClinGen gnomAD
CA8328760 COSM983016 rs374285551	87	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA397399221 rs1314670549	91	S>N		No	ClinGen TOPMed
rs1597348799 CA397399225	91	S>R		No	ClinGen Ensembl
rs759209078 CA8328761	92	A>T		No	ClinGen ExAC gnomAD
CA397399229 rs1284720304	92	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8328764 rs767141459	94	G>D		No	ClinGen ExAC gnomAD
CA397399248 rs1309018920	95	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775098716 CA8328765	96	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1567650510 CA397399255	97	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1391357222 CA397399723	99	R>G		No	ClinGen TOPMed
rs775259948 CA8328787 COSM983017	99	R>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1452406931 CA397399746	102	E>K		No	ClinGen gnomAD
CA8328789 rs535718766	103	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA397399771 rs1466345201	105	Q>E		No	ClinGen gnomAD
CA397399801 rs1423236100	109	K>E		No	ClinGen gnomAD
CA397399822 rs1395083803	111	L>P		No	ClinGen TOPMed
CA8328791 rs201538714	112	V>G		No	ClinGen ExAC TOPMed gnomAD
CA8328793 rs750743384	113	E>G		No	ClinGen ExAC gnomAD
CA287337826 rs1034992973	116	V>A		No	ClinGen TOPMed gnomAD
CA397399856 rs1034992973	116	V>G		No	ClinGen TOPMed gnomAD
rs150484121 CA8328795	116	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8328796 rs150484121	116	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs911301429 CA287337827	117	K>N		No	ClinGen gnomAD
rs1567651395 CA397399861	117	K>R		No	ClinGen Ensembl
rs1435226233 CA397399870	118	A>G		No	ClinGen gnomAD
CA8328797 rs755143786	119	R>G		No	ClinGen ExAC TOPMed gnomAD
CA287337832 rs964065023	119	R>K		No	ClinGen TOPMed
rs757103421 CA8328800	121	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8328799 rs144086256	121	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1331430303 CA397399924	124	G>E		No	ClinGen TOPMed gnomAD
rs1266509856 CA397399917	124	G>R		No	ClinGen gnomAD
rs1209459128 CA397399955	127	K>N		No	ClinGen gnomAD
TCGA novel	127	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8328802 rs146863338	129	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397399975 rs1235314695	130	G>R		No	ClinGen TOPMed
TCGA novel	132	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397399994 rs1307562769	132	P>S		No	ClinGen TOPMed
CA397400000 rs139220217	133	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs779918863 CA8328805	133	T>N		No	ClinGen ExAC gnomAD
CA8328804 rs139220217	133	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597350244 CA397400010	134	H>P		No	ClinGen Ensembl
rs879051285 CA287337860	135	S>N		No	ClinGen Ensembl
CA8328808 rs746625514	135	S>R		No	ClinGen ExAC gnomAD
CA287337863 rs1047740848	136	L>P		No	ClinGen Ensembl
rs1399515392 CA397400043	138	Q>*		No	ClinGen TOPMed gnomAD
CA8328809 rs534280809	138	Q>H		No	ClinGen 1000Genomes ExAC
rs1276994292 CA397400046	138	Q>R		No	ClinGen gnomAD
CA287337876 rs928826564	140	S>I		No	ClinGen TOPMed
CA397400070 rs1597350282	141	T>P		No	ClinGen Ensembl
rs762411331 CA8328811	142	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8328812 rs199514811	142	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762411331 CA287337883	142	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1229316265 CA397400093	144	S>A		No	ClinGen gnomAD
rs1202217070 CA397400103	145	G>E		No	ClinGen gnomAD
rs1343021859 CA397400099	145	G>R		No	ClinGen gnomAD
CA8328819 rs752671456	147	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1473119360 CA397400131	148	P>H		No	ClinGen TOPMed gnomAD
rs1473119360 CA397400130	148	P>L		No	ClinGen TOPMed gnomAD
CA397400127 rs1254336242	148	P>S		No	ClinGen gnomAD
TCGA novel	150	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397400162 rs1375546183	151	S>L		No	ClinGen gnomAD
rs779032256 CA8328821	152	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374776299 CA287337904	153	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374776299 CA8328823	153	A>T	Variant assessed as Somatic; 0.0002322 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs111825948 CA8328824	153	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397400185 rs746673933	154	D>E		No	ClinGen ExAC gnomAD
rs1371002419 CA397400203	156	W>*		No	ClinGen gnomAD
CA8328827 rs780772986	157	E>G		No	ClinGen ExAC gnomAD
rs566851364 CA8328826	157	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8328828 rs747655708	159	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747655708 CA397400233	159	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1275450840 CA397400251	160	H>Q		No	ClinGen gnomAD
rs1315956579 CA397400248	160	H>R		No	ClinGen TOPMed
rs1235540303 CA397400244	160	H>Y		No	ClinGen TOPMed gnomAD
rs769292163 CA8328829	161	H>P		No	ClinGen ExAC gnomAD
CA8328830 rs773771421	162	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369882202 CA8328831	162	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8328832 rs771291523	165	V>I		No	ClinGen ExAC gnomAD
rs761716545 CA397400301	166	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761716545 CA8328835	166	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8328834 rs759828075	166	R>W		No	ClinGen ExAC TOPMed gnomAD
CA287337947 rs919959374	170	H>Q		No	ClinGen TOPMed gnomAD
rs1371056143 CA397400336	170	H>R		No	ClinGen gnomAD
rs1457244993 CA397400340	171	A>T		No	ClinGen gnomAD
rs750395409 CA8328839	172	H>Y		No	ClinGen ExAC gnomAD
CA397400363 rs1388671591	173	P>L		No	ClinGen gnomAD
rs772701110 CA8328843	175	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8328842 COSM983019 rs772701110	175	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769329195 CA8328841	175	R>W		No	ClinGen ExAC gnomAD
rs905293793 CA287337974	176	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs139450838 CA8328845	176	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	177	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8328847 rs527690413	179	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8328846 rs200670174	179	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1233437656 CA397400408	180	E>K		No	ClinGen TOPMed
CA8328848 rs749827421	182	A>T		No	ClinGen ExAC gnomAD
CA8328850 rs774901405	184	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771379702 CA8328849	184	R>W		No	ClinGen ExAC gnomAD
rs1567651771 CA397400454	186	P>A		No	ClinGen Ensembl
rs1189893982 CA397400456	186	P>H		No	ClinGen gnomAD
rs1423115297 CA397400462	187	Y>C		No	ClinGen gnomAD
CA287337992 rs368127473	189	S>T		No	ClinGen Ensembl
CA397400491 rs775632055	191	E>*		No	ClinGen ExAC gnomAD
CA8328853 rs775632055	191	E>Q		No	ClinGen ExAC gnomAD
rs764270316 CA8328855	192	P>A		No	ClinGen ExAC gnomAD
CA397400509 rs1326758004	193	L>F		No	ClinGen TOPMed
CA397400516 rs1597350527	194	C>R		No	ClinGen Ensembl
CA397400527 rs1433023230	195	S>P		No	ClinGen TOPMed gnomAD
rs947186048 CA287338013	195	S>Y		No	ClinGen Ensembl
CA287338015 rs564586671	196	P>H		No	ClinGen 1000Genomes
rs1181199820 CA397400553	197	S>R		No	ClinGen TOPMed gnomAD
rs1473444703 CA397400558	198	E>G		No	ClinGen gnomAD
CA8328881 rs138322441	198	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397400564 rs1184675650	199	S>A		No	ClinGen gnomAD
VAR_056873 rs16955870 CA287338553	199	S>C		No	ClinGen UniProt Ensembl dbSNP
rs753482541 CA397400573	200	D>E		No	ClinGen ExAC gnomAD
TCGA novel	201	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432707958 CA397400576	201	S>G		No	ClinGen gnomAD
CA8328883 rs529735107	203	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1435811421 CA397400598	204	E>G		No	ClinGen gnomAD
CA8328885 rs750899532	204	E>Q		No	ClinGen ExAC gnomAD
CA8328886 rs201409597	205	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780301926 CA8328887	207	G>R		No	ClinGen ExAC gnomAD
CA8328888 rs747423630	208	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8328889 rs566268883 COSM983022	208	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8328891 rs748326651	209	G>E		No	ClinGen ExAC gnomAD
rs773307441 CA8328893	212	H>Q		No	ClinGen ExAC gnomAD
rs1272364280 CA397400650	213	L>F		No	ClinGen gnomAD
rs771639896 CA287338576	214	Q>R		No	ClinGen Ensembl
rs1288542858 CA397400664	215	K>Q		No	ClinGen TOPMed
CA287338578 rs933307625	217	S>F		No	ClinGen TOPMed gnomAD
CA397400681 rs1233692285	218	Q>E		No	ClinGen gnomAD
rs1338459048 CA397400685	218	Q>H		No	ClinGen TOPMed
CA8328895 rs772096192	218	Q>R		No	ClinGen ExAC gnomAD
CA8328898 rs760528872	220	L>P		No	ClinGen ExAC
rs757411566 CA287338598	223	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8328900 rs753500897	224	I>T		No	ClinGen ExAC gnomAD
CA287338603 rs761461615	225	M>K		No	ClinGen ExAC TOPMed gnomAD
CA8328901 rs761461615	225	M>T		No	ClinGen ExAC TOPMed gnomAD
rs377526630 CA8328903	226	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8328902 rs764680036	226	A>T		No	ClinGen ExAC
CA8328904 rs377526630	226	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348953288 CA397400736	227	E>K		No	ClinGen gnomAD
rs1294914597 CA397400751 COSM311075	228	E>D	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1433767105 CA397400744	228	E>K		No	ClinGen gnomAD
rs1567652594 CA397400753	229	R>G		No	ClinGen Ensembl
rs754092325 CA8328953	231	Q>*		No	ClinGen ExAC gnomAD
rs970644003 CA287338929	234	S>C		No	ClinGen TOPMed gnomAD
rs757428013 CA8328956	236	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8328957 rs112042172	236	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757428013 CA287338934	236	R>S		No	ClinGen ExAC TOPMed gnomAD
rs750549941 CA8328958	237	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1244431160 CA397401016	237	Q>H		No	ClinGen TOPMed
CA8328959 rs758440968	238	G>A		No	ClinGen ExAC TOPMed gnomAD
CA397401021 rs758440968	238	G>D		No	ClinGen ExAC TOPMed gnomAD
CA397401019 rs1172443758	238	G>R		No	ClinGen gnomAD
CA397401022 rs758440968	238	G>V		No	ClinGen ExAC TOPMed gnomAD
CA397401025 rs1162927691	239	F>V		No	ClinGen gnomAD
CA8328961 rs748019857	240	I>M		No	ClinGen ExAC
rs1392501449 CA397401032	240	I>V		No	ClinGen gnomAD
CA397401041 rs1326592630	241	L>P		No	ClinGen gnomAD
rs1443224324 CA397401038	241	L>V		No	ClinGen gnomAD
CA397401044 rs1284465291	242	K>*		No	ClinGen TOPMed
rs868445629 CA287338947	242	K>N		No	ClinGen TOPMed
CA397401052 rs1381082854	243	D>Y		No	ClinGen gnomAD
rs1298353350 CA397401068	245	Y>C		No	ClinGen gnomAD
CA8328963 rs201352756	246	A>T		No	ClinGen ExAC TOPMed gnomAD
CA287338951 rs940897642	246	A>V		No	ClinGen gnomAD
CA397401083 rs1361579756	248	P>A		No	ClinGen TOPMed
CA8328964 rs748972545	248	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774119308 CA8328966	249	P>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9BSJ6

No regional properties for Q9BSJ6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BSJ6

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleolus	Partially localizes to the nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 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.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MASRWQNMGT	SVRRRSLQHQ	EQLEDSKELQ	PVVSHQETSV	GALGSLCRQF	QRRLPLRAVN
70	80	90	100	110	120
LNLRAGPSWK	RLETPEPGQQ	GLQAAARSAK	SALGAVSQRI	QESCQSGTKW	LVETQVKARR
130	140	150	160	170	180
RKRGAQKGSG	SPTHSLSQKS	TRLSGAAPAH	SAADPWEKEH	HRLSVRMGSH	AHPLRRSRRE
190	200	210	220	230	240
AAFRSPYSST	EPLCSPSESD	SDLEPVGAGI	QHLQKLSQEL	DEAIMAEERK	QALSDRQGFI

LKDVYASP