AiPD: Autoinhibited Protein Database

Q9BRJ6

Gene name	C7orf50 (FP15621)
Protein name	Uncharacterized protein C7orf50
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84310
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-131 (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 Q9BRJ6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BRJ6-F1	Predicted				AlphaFoldDB

226 variants for Q9BRJ6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA366558968 rs1185896715	3	K>Q		No	ClinGen gnomAD
rs1486812173 CA366558947	4	Q>*		No	ClinGen TOPMed gnomAD
CA366558911 rs1238250475	6	R>T		No	ClinGen gnomAD
rs1334562460 CA366558892	7	K>R		No	ClinGen gnomAD
rs1157014170 CA366558882	8	V>I		No	ClinGen TOPMed
rs1215576469 CA366558847	10	E>D		No	ClinGen gnomAD
rs1445600437 CA366558841	11	V>M		No	ClinGen gnomAD
CA366558806 rs1286984961	13	E>G		No	ClinGen TOPMed gnomAD
CA366558799 rs1229490595	14	K>E		No	ClinGen gnomAD
CA366558753 rs780756375	16	N>K		No	ClinGen ExAC gnomAD
rs1380939664 CA366558731	18	K>R		No	ClinGen gnomAD
rs1380939664 CA366558732	18	K>T		No	ClinGen gnomAD
CA366558724 rs1443809369	19	L>P		No	ClinGen TOPMed
rs756663742 CA4115887	21	K>R		No	ClinGen ExAC gnomAD
rs190705576 CA366558686	22	A>E		No	ClinGen 1000Genomes
rs190705576 CA4115885	22	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1457764519 CA366558665	24	A>P		No	ClinGen gnomAD
rs370307866 CA4115883	25	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4115881 rs762786980	26	G>E		No	ClinGen ExAC gnomAD
rs1393629770 CA366558632	26	G>R		No	ClinGen gnomAD
CA4115880 rs752512974	27	P>S		No	ClinGen ExAC gnomAD
rs1210803252 CA366558573	31	P>L		No	ClinGen TOPMed
CA366558577 rs1305654236	31	P>S		No	ClinGen gnomAD
CA4115876 rs776377782	32	E>V		No	ClinGen ExAC TOPMed gnomAD
CA366558543 rs1468464587	33	A>V		No	ClinGen TOPMed gnomAD
rs1271789548 CA366558537	34	A>T		No	ClinGen gnomAD
rs138313744 CA4115874	36	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1444210301 CA366558506	36	S>N		No	ClinGen gnomAD
rs1444210301 CA366558504	36	S>T		No	ClinGen gnomAD
rs199870517 CA4115872	38	E>K		No	ClinGen ExAC gnomAD
TCGA novel	40	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370210570 CA366558435	41	G>D		No	ClinGen gnomAD
COSM744041 CA4115870 rs780594128	41	G>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA366558429 rs1459531818	42	S>T		No	ClinGen gnomAD
rs770215840	43	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1170015636 CA366558412	43	K>T		No	ClinGen gnomAD
rs755489999	44	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4115021 rs779290600	44	G>D		No	ClinGen ExAC gnomAD
CA366554218 rs1254026960	44	G>S		No	ClinGen gnomAD
rs749774764 CA4115019	45	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1215639487 CA366554173	46	A>G		No	ClinGen gnomAD
rs1183328543 CA366554167	47	V>M		No	ClinGen TOPMed
rs1341813726 CA366554145	48	L>P		No	ClinGen gnomAD
rs755674297 CA4115017 CA4115018	49	R>S		No	ClinGen ExAC gnomAD
rs61746340 CA4115015 CA152401031	51	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756929186 CA4115013	52	L>R		No	ClinGen ExAC gnomAD
rs1343009216 CA366554097	52	L>V		No	ClinGen gnomAD
rs916626971 CA152401008	53	D>H		No	ClinGen gnomAD
CA152400997 rs34458355	54	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34458355 CA4115011	54	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34458355 CA152401002	54	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA152400987 rs1039539130	56	P>S		No	ClinGen TOPMed
rs1039539130 CA366554029	56	P>T		No	ClinGen TOPMed
CA4115009 rs762835781	57	E>*		No	ClinGen ExAC TOPMed gnomAD
CA366554016 rs762835781	57	E>K		No	ClinGen ExAC TOPMed gnomAD
CA366554014 rs762835781	57	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs200946845 CA152400955	58	L>V		No	ClinGen 1000Genomes
rs1436353007 CA366553942	61	E>A		No	ClinGen TOPMed
CA4115008 rs766500876	62	E>*		No	ClinGen ExAC gnomAD
rs766500876 CA4115007	62	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1340660864 CA366553891	64	R>S		No	ClinGen TOPMed
rs760753745 CA4115006	65	V>I		No	ClinGen ExAC gnomAD
CA366553804 rs1405310498	70	L>V		No	ClinGen gnomAD
CA4115002 rs568083670	71	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366553772 rs769063494	72	K>N		No	ClinGen ExAC TOPMed gnomAD
CA366553767 rs1208031191	73	E>K		No	ClinGen gnomAD
CA4114999 rs780625610	74	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4115000 rs548289252	74	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152400887 rs745401578	77	E>*		No	ClinGen ExAC TOPMed gnomAD
rs77232774 CA4114996	77	E>A		No	ClinGen ExAC gnomAD
rs77232774 CA152400871	77	E>G		No	ClinGen ExAC gnomAD
CA4114997 rs745401578	77	E>K		No	ClinGen ExAC TOPMed gnomAD
CA366553698 rs757017147	78	E>*		No	ClinGen ExAC gnomAD
CA4114995 rs757017147	78	E>Q		No	ClinGen ExAC gnomAD
CA4114994 rs528543231	79	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777493246 CA4114993	80	Q>H		No	ClinGen ExAC gnomAD
rs565740979 CA4114992	81	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs369667950 CA4114991	81	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs552397511 CA4114988	83	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4114989 rs759425021	83	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1475177221 CA366553530	85	A>T		No	ClinGen gnomAD
CA366553499 rs1363576228	86	G>D		No	ClinGen TOPMed
CA152400843 rs919268585	90	Q>R		No	ClinGen TOPMed
rs1256052723 CA366553401	91	H>P		No	ClinGen gnomAD
CA4114987 rs767557603	91	H>Q		No	ClinGen ExAC gnomAD
rs774621441 CA4114986	92	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774621441 CA4114985	92	P>R		No	ClinGen ExAC TOPMed gnomAD
rs770445177 CA4114981	96	R>C		No	ClinGen ExAC gnomAD
rs770445177 CA152400795	96	R>G		No	ClinGen ExAC gnomAD
rs112167514 CA366553299	97	S>*		No	ClinGen ExAC TOPMed gnomAD
rs112167514 CA4114980	97	S>L		No	ClinGen ExAC TOPMed gnomAD
rs112167514 CA366553297	97	S>W		No	ClinGen ExAC TOPMed gnomAD
COSM1246952 CA366553286 rs1380005750	98	G>E	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA366553260 rs1428898717	99	A>D		No	ClinGen TOPMed gnomAD
rs563611992 CA366553241	100	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA4114976 rs563611992	100	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1562985017 CA366553225	101	L>V		No	ClinGen Ensembl
rs1428804242 CA366553206	102	A>G		No	ClinGen TOPMed
rs769143130 CA152400744	104	D>E		No	ClinGen Ensembl
rs752563514 CA4114974	104	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs745438424 CA152400743	106	L>F		No	ClinGen Ensembl
rs1185370811 CA366553154	107	C>S		No	ClinGen gnomAD
CA4114972 rs141577426	107	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152400730 rs548628243	108	R>T		No	ClinGen Ensembl
CA366549907 rs1275451497	109	W>*		No	ClinGen gnomAD
CA4114946 rs765752020	109	W>R		No	ClinGen ExAC gnomAD
CA366549901 rs1334711776	110	A>G		No	ClinGen TOPMed
CA4114945 rs375651721	110	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375651721 CA366549904	110	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114944 rs777065089	112	K>E		No	ClinGen ExAC TOPMed gnomAD
rs373367953 CA152390139	113	H>Q		No	ClinGen ESP TOPMed gnomAD
CA4114941 rs150287143	113	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114942 rs756348763 COSM1235974	113	H>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1412223940 CA366549879	114	K>E		No	ClinGen gnomAD
CA4114940 rs772823157	115	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1433637336 COSM1698320 CA366549861	116	W>*	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1433637336 CA366549860	116	W>S		No	ClinGen TOPMed gnomAD
rs889374340 CA152390134	120	K>N		No	ClinGen TOPMed
rs141160829 CA4114938	121	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114936 rs749113578	123	Q>*		No	ClinGen ExAC gnomAD
rs749113578 CA4114935	123	Q>E		No	ClinGen ExAC gnomAD
CA4114934 rs148266418	124	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA366549787 rs1252532896	125	W>*		No	ClinGen TOPMed gnomAD
CA366549778 rs1187095520	126	L>F		No	ClinGen gnomAD
CA366549769 rs1484759363	127	L>V		No	ClinGen TOPMed gnomAD
rs745761634 CA4114932	128	L>P		No	ClinGen ExAC gnomAD
CA4114931 rs777973267	129	H>Y		No	ClinGen ExAC gnomAD
rs752764633 CA4114929	130	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4114930 rs371169937	130	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366549694 rs1230691490	132	D>G		No	ClinGen gnomAD
CA366549690 rs1172904260	133	S>C		No	ClinGen TOPMed
rs765558669 CA4114928	133	S>T		No	ClinGen ExAC gnomAD
CA4114927 rs572274429	134	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA366549676 rs1583291524	134	D>N		No	ClinGen Ensembl
CA366549269 rs1467299566	137	P>L		No	ClinGen TOPMed
rs1409254401 CA366549271	137	P>S		No	ClinGen gnomAD
rs1365223972 CA366549254	138	D>G		No	ClinGen gnomAD
rs774990038 CA4114896	139	E>D		No	ClinGen ExAC gnomAD
CA4114897 rs763562941	139	E>Q		No	ClinGen ExAC gnomAD
CA366549238 rs1180131216	139	E>V		No	ClinGen TOPMed
rs1479236889 CA366549223	140	H>Q		No	ClinGen gnomAD
CA366549218 rs1301493056	141	F>I		No	ClinGen gnomAD
CA366549220 rs1301493056	141	F>L		No	ClinGen gnomAD
CA4114892 rs374996617	143	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1583278076 CA366549194	143	T>P		No	ClinGen Ensembl
CA4114893 rs374996617	143	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1436506757 CA366549158 COSM484578	145	L>M	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs930691658 CA152383773	146	A>T		No	ClinGen TOPMed
TCGA novel	148	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4114891 rs564565004	148	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs920701029 CA152383757	149	E>Q		No	ClinGen Ensembl
CA366549102 rs1342246206	149	E>V		No	ClinGen gnomAD
CA366549082 rs1392878518	150	G>V		No	ClinGen TOPMed
TCGA novel	150	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366549080 rs1392878518	150	G>E		No	ClinGen TOPMed
rs771010979 CA4114890	150	G>R		No	ClinGen ExAC gnomAD
CA366549066 rs1275183201	151	L>P		No	ClinGen gnomAD
rs779205834 CA4114888	153	G>D		No	ClinGen ExAC gnomAD
rs61753418 CA152383720	154	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4114886 rs61753418	154	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371796177 CA4114887	154	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA152383709 COSM1173267 rs755245319	155	A>P	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA366549025 rs1562964776	155	A>V		No	ClinGen Ensembl
CA4114883 rs750777216	156	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4114882 rs750777216	156	R>G		No	ClinGen ExAC TOPMed gnomAD
CA366549010 rs781514793	156	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4114881 rs781514793	156	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1416341546 CA366548982	158	L>Q		No	ClinGen gnomAD
rs575875464 CA366548968	159	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4114879 rs575875464	159	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4114880 rs575875464	159	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366548945 rs1254674212	160	V>A		No	ClinGen gnomAD
CA4114876 rs752181478	160	V>M		No	ClinGen ExAC gnomAD
CA152383665 rs997864577	161	Q>E		No	ClinGen TOPMed
rs368280136 CA4114875	163	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368280136 CA4114874	163	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366548806 rs1258984718	167	M>I		No	ClinGen TOPMed
rs776335835 CA4114873	168	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766276633 CA366548795	168	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766276633 CA4114872	168	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776335835 CA152383640	168	R>W		No	ClinGen ExAC TOPMed gnomAD
rs968423550 CA152383628	170	L>P		No	ClinGen TOPMed
rs968423550 CA366548774	170	L>R		No	ClinGen TOPMed
rs773297965 CA4114870	172	E>D		No	ClinGen ExAC gnomAD
CA152383626 rs147627148	172	E>G		No	ClinGen ESP TOPMed gnomAD
CA366548736 rs772071813	173	E>*		No	ClinGen ExAC TOPMed
CA4114869 rs772071813	173	E>K		No	ClinGen ExAC TOPMed
CA366548710 rs1354934600	174	G>A		No	ClinGen TOPMed gnomAD
CA366548708 rs1354934600	174	G>D		No	ClinGen TOPMed gnomAD
CA4114868 rs749359637	174	G>R		No	ClinGen ExAC gnomAD
CA366548696 rs1450479253	175	S>C		No	ClinGen gnomAD
rs368307638 CA366548690	176	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114866 rs368307638	176	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs746072312 CA4114865	177	P>A		No	ClinGen ExAC gnomAD
CA4114864 rs781602730	177	P>H		No	ClinGen ExAC gnomAD
CA366548674 rs781602730	177	P>R		No	ClinGen ExAC gnomAD
rs746072312 CA366548676	177	P>S		No	ClinGen ExAC gnomAD
rs746072312 CA366548677	177	P>T		No	ClinGen ExAC gnomAD
rs146984114 CA4114862	178	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs146984114 COSM1194384 CA4114861	178	P>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs146984114 CA4114860	178	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs541834801 CA4114863	178	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs750339990	179	L>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs750339990	179	L>C	Variant assessed as Somatic; 4.682e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs375372981 CA366548661	179	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750339990	179	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1009529921 CA4114852	179	L>R		No	ClinGen TOPMed
rs375372981 CA4114856	179	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA152383480 rs886707371	180	P>A		No	ClinGen Ensembl
rs201499059 CA4114851	180	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143252016 CA152383428	181	G>R		No	ClinGen 1000Genomes
rs773105173 CA4114849	182	R>G		No	ClinGen ExAC gnomAD
rs1562964292 CA366548630	182	R>T		No	ClinGen Ensembl
CA366548613 rs1562964282	183	A>V		No	ClinGen Ensembl
rs761790538 CA4114845	185	R>C		No	ClinGen ExAC gnomAD
CA4114844 rs754169086	185	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4114843 rs372720975	187	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114842 rs142388850	187	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142388850 CA4114841	187	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288559563 CA366548559	188	Q>L		No	ClinGen gnomAD
rs747403710 CA4114838	190	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA152383309 rs917034483	191	Q>H		No	ClinGen Ensembl
rs1583277016 CA366548533	191	Q>K		No	ClinGen Ensembl
CA366548529 rs1278652970	191	Q>R		No	ClinGen TOPMed
CA366548514 rs1348706752	193	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1425082621 CA366548492	195	S>K		No	ClinGen gnomAD

No associated diseases with Q9BRJ6

1 regional properties for Q9BRJ6

Type	Name	Position	InterPro Accession
domain	WKF domain	104 - 165	IPR019327

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

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9CXL3		Uncharacterized protein C7orf50 homolog	Mus musculus (Mouse)	PR
Q5I0E3		Uncharacterized protein C7orf50 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAKQKRKVPE	VTEKKNKKLK	KASAEGPLLG	PEAAPSGEGA	GSKGEAVLRP	GLDAEPELSP
70	80	90	100	110	120
EEQRVLERKL	KKERKKEERQ	RLREAGLVAQ	HPPARRSGAE	LALDYLCRWA	QKHKNWRFQK
130	140	150	160	170	180
TRQTWLLLHM	YDSDKVPDEH	FSTLLAYLEG	LQGRARELTV	QKAEALMREL	DEEGSDPPLP
190
GRAQRIRQVL	QLLS