AiPD: Autoinhibited Protein Database

Q96MD7

Gene name	C9orf85
Protein name	Uncharacterized protein C9orf85
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:138241
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-53 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-53 (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 Q96MD7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96MD7-F1	Predicted				AlphaFoldDB

145 variants for Q96MD7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs773033019 CA5080526	3	S>F		No	ClinGen ExAC gnomAD
CA373645333 rs546890458	4	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1225190866 CA373645367	7	N>S		No	ClinGen gnomAD
rs201124888 CA5080529	9	A>T		No	ClinGen TOPMed
rs774432760 CA5080531	9	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759665303 CA5080532	10	R>G		No	ClinGen ExAC gnomAD
CA373645402 COSM3720279 rs1589239393 COSM3720280	10	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5080533 rs767438531	11	S>F		No	ClinGen ExAC gnomAD
CA373645418 rs756647095	12	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5080535 rs756647095	12	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764661189 CA5080536	12	R>T		No	ClinGen ExAC TOPMed gnomAD
rs757678668 CA5080538	13	P>S		No	ClinGen ExAC gnomAD
CA373645472 rs779819278	16	H>N		No	ClinGen ExAC gnomAD
rs779819278 CA5080539	16	H>Y		No	ClinGen ExAC gnomAD
rs763884967 CA194208789	17	Q>L		No	ClinGen TOPMed
rs763884967 CA194208788	17	Q>R		No	ClinGen TOPMed
CA373645503 rs1435534607	18	N>T		No	ClinGen TOPMed gnomAD
CA373645517 rs1175712243	19	T>K		No	ClinGen gnomAD
CA5080542 rs746588848	22	F>L		No	ClinGen ExAC gnomAD
CA5080543 rs754543593	23	K>E		No	ClinGen ExAC gnomAD
rs1006080136 CA194208790	25	D>E		No	ClinGen Ensembl
CA5080544 rs147625713	25	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1355031592 CA373645579	26	K>R		No	ClinGen gnomAD
rs1355031592 CA373645578	26	K>T		No	ClinGen gnomAD
CA373645590 rs1448792992	27	F>L		No	ClinGen gnomAD
rs370413052 CA5080546	28	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs370413052 CA5080545	28	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014738207 CA194208791	29	K>E		No	ClinGen gnomAD
rs773122954 CA373645599	29	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5080547 rs773122954	29	K>T		No	ClinGen ExAC TOPMed gnomAD
CA5080548 rs759542071	30	S>G		No	ClinGen ExAC TOPMed gnomAD
CA373645610 rs992508988	31	V>L		No	ClinGen TOPMed gnomAD
CA194208792 rs992508988	31	V>M		No	ClinGen TOPMed gnomAD
rs1199325405 CA373645616	32	Q>*		No	ClinGen gnomAD
CA5080549 rs770566545	32	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs372706730 CA5080550	34	K>N		No	ClinGen ESP ExAC TOPMed
CA373645631 rs1197202637	34	K>T		No	ClinGen gnomAD
rs1421835269 CA373650329	36	I>V		No	ClinGen gnomAD
rs766674633 CA5080604	39	K>N		No	ClinGen ExAC TOPMed gnomAD
rs752367752 CA5080605	40	L>I		No	ClinGen ExAC gnomAD
CA373650369 rs1173330241	42	D>N		No	ClinGen gnomAD
CA5080606 rs375164421	43	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031859977 CA194212335	43	G>R		No	ClinGen TOPMed
CA5080608 rs753337640	46	Q>*		No	ClinGen ExAC gnomAD
rs756775217 CA5080609	46	Q>R		No	ClinGen ExAC gnomAD
CA5080610 rs202202290	47	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370829883 CA5080611	47	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5080612 rs368378761	48	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779957894 CA5080613	48	C>Y		No	ClinGen ExAC
CA5080614 rs996234640	49	K>E		No	ClinGen TOPMed
rs1029594818 CA194212337	50	E>A		No	ClinGen gnomAD
rs746773159 CA5080616	53	E>K		No	ClinGen ExAC gnomAD
CA5080617 rs755304528	55	R>C		No	ClinGen ExAC gnomAD
CA5080618 rs142178034	55	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5080619 rs748244374	57	K>N		No	ClinGen ExAC gnomAD
rs1006790385 CA194212339	57	K>T		No	ClinGen Ensembl
rs769845562 CA5080621	60	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373650514 rs1489246617	63	P>L		No	ClinGen gnomAD
rs1327558413 CA373650556 COSM3848740 COSM3848741	69	K>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs773607141 CA5080622	70	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1361394425 CA373644803	74	L>V		No	ClinGen gnomAD
CA5080644 rs749332710	75	Q>E		No	ClinGen ExAC gnomAD
CA5080646 rs774825282	76	K>N		No	ClinGen ExAC gnomAD
rs1429961000 CA373644824	77	T>A		No	ClinGen TOPMed gnomAD
rs1429961000 CA373644825	77	T>S		No	ClinGen TOPMed gnomAD
CA5080647 rs573033747	78	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA194215109 rs1044117513	80	D>Y		No	ClinGen Ensembl
rs201027513 CA5080649	82	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1430030100 CA373644866	83	H>R		No	ClinGen TOPMed
CA373644864 rs1168240470	83	H>Y		No	ClinGen TOPMed
rs141823356 CA5080651	84	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373644881 rs1198199991	85	M>I		No	ClinGen TOPMed
rs772829488 CA5080652	85	M>T		No	ClinGen ExAC gnomAD
rs762543748 CA373644888	86	C>F		No	ClinGen ExAC gnomAD
CA373644887 rs762543748	86	C>S		No	ClinGen ExAC gnomAD
rs766494564 CA5080654	86	C>W		No	ClinGen ExAC gnomAD
CA5080653 rs762543748	86	C>Y		No	ClinGen ExAC gnomAD
rs1239666370 CA373644896	87	R>S		No	ClinGen gnomAD
rs1181635664 CA373644900	88	P>L		No	ClinGen gnomAD
rs1181635664 CA373644901	88	P>Q		No	ClinGen gnomAD
rs751477022 CA5080655	88	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751477022 CA373644897	88	P>T		No	ClinGen ExAC TOPMed gnomAD
rs766075508 CA194215110	89	C>R		No	ClinGen TOPMed
CA373644914 rs1441751533	90	A>V		No	ClinGen gnomAD
TCGA novel	96	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767296962 CA5080659	97	A>T		No	ClinGen ExAC TOPMed gnomAD
rs371510447 CA5080660	97	A>V		No	ClinGen ESP ExAC gnomAD
rs562350593 CA5080661	99	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373644982 rs1564101720	100	G>E		No	ClinGen Ensembl
rs777834408 CA5080666	105	I>V		No	ClinGen ExAC gnomAD
rs753976839 CA5080667	107	I>F		No	ClinGen ExAC gnomAD
rs757324049 COSM2779954 COSM2779953 CA5080669	108	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1589279528 CA373646030	110	S>C		No	ClinGen Ensembl
rs1589279528 CA373646028	110	S>G		No	ClinGen Ensembl
rs1260137236 CA373646055	111	L>P		No	ClinGen gnomAD
rs903019733 CA194216325	111	L>V		No	ClinGen TOPMed gnomAD
rs1202065098 CA373646076	112	P>L		No	ClinGen gnomAD
rs1462696838 CA373646167	116	R>K		No	ClinGen TOPMed
rs1413999149 CA373646224	118	E>D		No	ClinGen TOPMed
rs1589279556 CA373646212	118	E>G		No	ClinGen Ensembl
rs1166947237 CA373646226	119	C>S		No	ClinGen TOPMed
CA373646337 rs1589279568	123	I>V		No	ClinGen Ensembl
CA373646413 rs1460656807	126	H>Y		No	ClinGen gnomAD
CA373646445 rs1381767059	127	H>R		No	ClinGen gnomAD
rs1178882820 CA373646427	127	H>Y		No	ClinGen gnomAD
CA373646467 rs1416863429	128	N>K		No	ClinGen gnomAD
CA373646461 rs1191105630	128	N>S		No	ClinGen TOPMed
rs1191105630 CA373646460	128	N>T		No	ClinGen TOPMed
rs111817606 CA5080740	130	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA194216329 rs911890855	130	R>H		No	ClinGen TOPMed gnomAD
rs1468048783 CA373646528	131	L>F		No	ClinGen gnomAD
rs1405813733 CA373646600	134	S>*		No	ClinGen gnomAD
rs1333681151 CA373646630	135	S>I		No	ClinGen gnomAD
CA194216330 rs944816243	136	D>N		No	ClinGen TOPMed gnomAD
rs1390929801 CA373646662	136	D>V		No	ClinGen gnomAD
CA194216331 rs1039083611	138	P>S		No	ClinGen gnomAD
rs1313990973 CA373646743	141	A>D		No	ClinGen gnomAD
CA194216332 rs921993005	142	S>A		No	ClinGen TOPMed gnomAD
CA194216334 rs1049189606	143	R>*		No	ClinGen TOPMed gnomAD
rs756540819 CA5080742	143	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1239664409 CA373646783	144	V>I		No	ClinGen gnomAD
CA194216336 rs1012358333	146	G>E		No	ClinGen TOPMed gnomAD
rs376908230 CA194216335	146	G>R		No	ClinGen Ensembl
rs1176218231 CA373646802	147	T>I		No	ClinGen TOPMed gnomAD
rs140727570 CA194216338	150	A>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs140727570 CA373646815	150	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs140727570 CA194216337	150	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1168624094 CA373646880	159	V>L		No	ClinGen TOPMed
CA194216339 rs759301384	162	V>G		No	ClinGen Ensembl
CA194216340 rs140925550	163	E>K		No	ClinGen TOPMed gnomAD
rs140925550 CA194216341	163	E>Q		No	ClinGen TOPMed gnomAD
rs1398432239 CA373646920	164	M>I		No	ClinGen gnomAD
CA373646914 rs1173229364	164	M>T		No	ClinGen gnomAD
rs1394942029 CA373646962	167	H>P		No	ClinGen TOPMed
CA373646982 rs1425398419	168	Y>C		No	ClinGen TOPMed gnomAD
CA373646972 rs1294276658	168	Y>N		No	ClinGen gnomAD
rs951800949 CA194216342	169	V>G		No	ClinGen TOPMed gnomAD
CA373647054 rs1589279667	172	A>D		No	ClinGen Ensembl
CA5080745 rs556375288	172	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373647064 rs1344771488	173	G>S		No	ClinGen TOPMed gnomAD
rs1219062518 CA373647103	175	E>K		No	ClinGen TOPMed gnomAD
rs1219062518 CA373647098	175	E>Q		No	ClinGen TOPMed gnomAD
CA373647130 rs1220844852	176	L>F		No	ClinGen TOPMed
CA373647143 rs1368099241	177	L>M		No	ClinGen TOPMed
CA373647154 rs1589279687	178	T>P		No	ClinGen Ensembl

No associated diseases with Q96MD7

No regional properties for Q96MD7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96MD7

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

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9CQ90		Uncharacterized protein C9orf85 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSSQKGNVAR	SRPQKHQNTF	SFKNDKFDKS	VQTKKINAKL	HDGVCQRCKE	VLEWRVKYSK
70	80	90	100	110	120
YKPLSKPKKC	VKCLQKTVKD	SYHIMCRPCA	CELEVCAKCG	KKEDIVIPWS	LPLLPRLECS
130	140	150	160	170
GRILAHHNLR	LPCSSDSPAS	ASRVAGTTGA	HHHAQLIFVF	LVEMGFHYVG	QAGLELLTS