AiPD: Autoinhibited Protein Database

Q9H972

Gene name	C14orf93
Protein name	Uncharacterized protein C14orf93
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:60686
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

247-321 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

247-321 (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 Q9H972

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H972-F1	Predicted				AlphaFoldDB

369 variants for Q9H972

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1428005117 CA388962496	4	S>G		No	ClinGen TOPMed
CA7108567 rs781032765	4	S>R		No	ClinGen ExAC gnomAD
rs772268895 CA7108566	9	F>L		No	ClinGen ExAC TOPMed gnomAD
rs746152449 CA7108565	14	G>S		No	ClinGen ExAC TOPMed gnomAD
CA388962358 rs1171203749	15	S>T		No	ClinGen gnomAD
rs778370143 CA7108561	16	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756697894 CA7108560	18	R>K		No	ClinGen ExAC gnomAD
CA388962323 rs756697894	18	R>T		No	ClinGen ExAC gnomAD
CA388962304 rs1471640737	20	C>Y		No	ClinGen gnomAD
rs1231364636 CA388962292	21	C>W		No	ClinGen gnomAD
CA388962296 rs1182713037	21	C>Y		No	ClinGen gnomAD
rs759076674 CA7108557	23	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1006646947 CA257726676	24	C>R		No	ClinGen TOPMed
CA388962260 rs1566687808	24	C>S		No	ClinGen Ensembl
rs1225382368 CA388962246	25	K>R		No	ClinGen TOPMed
CA257726672 rs751181693	26	S>I		No	ClinGen ExAC TOPMed gnomAD
rs751181693 CA7108556	26	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1345499541 CA388962237	26	S>R		No	ClinGen gnomAD
CA388962213 rs1226559781	27	E>D		No	ClinGen gnomAD
CA7108555 rs765967235	29	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7108553 rs115384436	34	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7108554 rs115384436	34	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761798223 CA7108551	35	S>F		No	ClinGen ExAC gnomAD
rs200166838 CA7108549	39	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	41	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480502131 CA388962040	42	P>S		No	ClinGen TOPMed
CA7108547 rs779151194	43	S>I		No	ClinGen ExAC TOPMed gnomAD
rs771075602 CA7108546	44	T>N		No	ClinGen ExAC gnomAD
rs771075602 CA388962010	44	T>S		No	ClinGen ExAC gnomAD
CA7108545 rs749318625	45	P>S		No	ClinGen ExAC TOPMed gnomAD
CA388961959 rs1189936783	49	T>S		No	ClinGen gnomAD
TCGA novel	50	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	52	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7108544 rs778053279	54	A>V		No	ClinGen ExAC
rs1247259008 CA388961890	55	V>I		No	ClinGen gnomAD
rs948839943 CA257726611	56	Q>E		No	ClinGen TOPMed gnomAD
rs531858490 CA257726602	60	Q>*		No	ClinGen 1000Genomes
rs1331156151 CA388961804	61	L>F		No	ClinGen TOPMed gnomAD
CA388961774 rs1227277463	64	V>I		No	ClinGen gnomAD
rs756663389 CA7108543	65	I>N		No	ClinGen ExAC gnomAD
CA388961742 rs917355740 CA257726588	67	Q>H		No	ClinGen TOPMed gnomAD
CA388961743 rs1448381640	67	Q>L		No	ClinGen gnomAD
CA7108541 rs562860252	68	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753294201 CA7108542	68	R>W		No	ClinGen ExAC gnomAD
rs765989872 CA7108538	70	D>E		No	ClinGen ExAC gnomAD
rs139334143 CA7108539	70	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7108537 rs762579504	72	A>P		No	ClinGen ExAC TOPMed gnomAD
CA388961717 rs762579504	72	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1411791778 CA388961707	73	V>M		No	ClinGen TOPMed gnomAD
rs1445473905 COSM1493208 CA388961690	74	G>D	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7108536 rs371712195	74	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388961630 rs1186471999	79	A>D		No	ClinGen gnomAD
rs1594649707 CA388961620	80	L>P		No	ClinGen Ensembl
rs764776575 CA7108535	80	L>V		No	ClinGen ExAC gnomAD
CA7108534 rs367913660	85	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7108533 rs776512632	86	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7108532 rs768502210	88	E>K		No	ClinGen ExAC
CA7108529 rs374314595	92	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775155549 CA7108528	92	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369465260 CA257726522	95	E>K		No	ClinGen Ensembl
CA388961263 rs1364583518	97	V>M		No	ClinGen gnomAD
CA388961232 rs1289951721	99	D>H		No	ClinGen gnomAD
rs781681124 CA7108520	103	G>E		No	ClinGen ExAC gnomAD
rs1451078598 CA388961089	105	V>G		No	ClinGen gnomAD
rs755443128 CA7108519	105	V>M		No	ClinGen ExAC gnomAD
rs1190550899 CA388961076	106	S>Y		No	ClinGen gnomAD
CA388961024 rs1326709817	108	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1477005439 CA388961020	109	D>N		No	ClinGen TOPMed gnomAD
rs1442970666 CA388960992	110	E>A		No	ClinGen TOPMed
rs1247894369 CA388960942	112	G>V		No	ClinGen gnomAD
rs747395566 CA7108518	114	S>N		No	ClinGen ExAC gnomAD
rs1222622969 CA388960916	114	S>R		No	ClinGen gnomAD
rs747395566 CA257726499	114	S>T		No	ClinGen ExAC gnomAD
rs141894847 CA7108516	115	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780340965 CA7108517	115	R>W		No	ClinGen ExAC TOPMed gnomAD
CA388960859 rs1309627536	117	H>Y		No	ClinGen gnomAD
TCGA novel	118	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7108515 rs750117060	119	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA388960780 rs764903510	121	P>S		No	ClinGen ExAC gnomAD
CA7108514 rs764903510	121	P>T		No	ClinGen ExAC gnomAD
rs953732587 CA257726486	124	P>A		No	ClinGen TOPMed gnomAD
rs953732587 CA388960719	124	P>T		No	ClinGen TOPMed gnomAD
rs1405600324 CA388960700	125	G>E		No	ClinGen gnomAD
CA7108513 rs753363567	125	G>R		No	ClinGen ExAC gnomAD
CA7108512 rs753363567	125	G>W		No	ClinGen ExAC gnomAD
CA388960688 rs1459699154	126	P>T		No	ClinGen TOPMed
rs1243546408 CA388960658	128	K>E		No	ClinGen TOPMed
rs1306394470 CA388960642	129	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	131	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7108508 rs138757183	132	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7108507 rs759432044	134	A>G		No	ClinGen ExAC TOPMed gnomAD
CA388960564 rs759432044	134	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388960557 rs1385464667	135	F>V		No	ClinGen TOPMed
CA257726390 rs1035215805	137	A>T		No	ClinGen TOPMed
CA7108504 rs748171284	138	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7108501 rs747519122	141	V>G		No	ClinGen ExAC TOPMed
rs375192351 CA7108502	141	V>M		No	ClinGen ExAC TOPMed gnomAD
rs780435740 CA7108499	142	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA388960444 rs1462519198	144	E>*		No	ClinGen TOPMed
CA7108497 rs746255436	145	C>R		No	ClinGen ExAC gnomAD
rs1310855442 CA388960429	145	C>Y		No	ClinGen TOPMed gnomAD
CA7108496 rs3751495	146	D>N		No	ClinGen ExAC gnomAD
rs202082073 CA388960387	148	V>L		No	ClinGen ExAC TOPMed gnomAD
rs202082073 CA7108494	148	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7108493 rs763574563	149	G>D		No	ClinGen ExAC gnomAD
CA7108491 rs752534226	151	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7108489 rs759344169	152	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7108488 rs774291164	156	I>T		No	ClinGen ExAC TOPMed gnomAD
rs149459821 CA388960244	160	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA257726277 rs898194929	160	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs149459821 CA7108487	160	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1433522600 CA388960225	161	Q>H		No	ClinGen TOPMed
rs1281882267 CA388960195	164	A>S		No	ClinGen TOPMed
rs934737658 CA257726275	167	V>M		No	ClinGen TOPMed gnomAD
rs199619657 CA7108486	171	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7108485 rs200818446	172	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1245430555 CA388960062	176	A>T		No	ClinGen gnomAD
CA7108484 rs137867108	178	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7108483 rs775813907	181	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7108482 rs775813907	181	M>T		No	ClinGen ExAC TOPMed gnomAD
rs779321297 CA7108479	182	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7108480 rs575344242	182	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA7108478 rs770561857	185	G>E		No	ClinGen ExAC gnomAD
CA7108477 rs746926401	186	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs545851295 CA7108476	187	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257726184 rs545851295	187	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7108474 rs752262999	189	A>V		No	ClinGen ExAC TOPMed gnomAD
VAR_050875 CA7108473 rs3829409	190	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1365483730 CA388959879	192	E>K		No	ClinGen TOPMed
CA7108471 rs115989104	193	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388959847 rs1015725666	194	A>D		No	ClinGen TOPMed gnomAD
CA257726169 rs1015725666	194	A>G		No	ClinGen TOPMed gnomAD
CA388959850 rs1015725666	194	A>V		No	ClinGen TOPMed gnomAD
CA7108468 rs753957455	195	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201062000 CA7108469	195	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388958774 rs1292712001	201	V>L		No	ClinGen gnomAD
CA7108443 rs780162600	202	D>N		No	ClinGen ExAC gnomAD
CA7108442 rs377232628	204	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs545530184 CA257724819	205	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7108440 rs545530184	205	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7108439 rs761012131	207	S>A		No	ClinGen ExAC gnomAD
rs759639648 CA7108436	209	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1345614066 CA388958670	209	G>S		No	ClinGen gnomAD
COSM169894 CA7108435 rs766879288	213	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766879288 CA7108434	213	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1462918039 CA388958619	213	R>Q		No	ClinGen gnomAD
CA388958593 rs1197915954	216	V>A		No	ClinGen gnomAD
rs763173219 CA7108432	218	A>V		No	ClinGen ExAC gnomAD
rs1181722585 CA388958533	221	K>E		No	ClinGen gnomAD
rs1436345121 CA388958524	221	K>R		No	ClinGen gnomAD
CA7108430 rs372808152	222	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA388958498 rs1594635508	222	Q>H		No	ClinGen Ensembl
CA7108429 rs182983042	222	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7108427 rs768233107	223	L>F		No	ClinGen ExAC gnomAD
CA7108428 rs768233107	223	L>I		No	ClinGen ExAC gnomAD
rs1389685754 CA388958468	224	S>L		No	ClinGen gnomAD
CA388958473 rs1225278955	224	S>P		No	ClinGen gnomAD
rs553343257 CA7108426	225	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs553343257 CA388958456	225	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs150643298 CA257724758	229	L>V		No	ClinGen 1000Genomes gnomAD
rs780068233 CA7108425	231	I>M		No	ClinGen ExAC gnomAD
rs745634755 CA7108423	233	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs529811646 CA7108424	233	R>W		No	ClinGen ExAC gnomAD
TCGA novel	234	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594635242 CA388958286	235	T>P		No	ClinGen Ensembl
CA7108421 rs756255543	236	P>A		No	ClinGen ExAC TOPMed gnomAD
CA388958214 rs1430055462	238	T>I		No	ClinGen gnomAD
rs1471279623 CA388958229	238	T>P		No	ClinGen gnomAD
TCGA novel	242	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7108420 rs201840699	242	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7108419 rs767762132	244	T>N		No	ClinGen ExAC gnomAD
rs1594635102 CA388958118	244	T>P		No	ClinGen Ensembl
rs766785577 CA7108416	247	P>S		No	ClinGen ExAC gnomAD
rs1387882056 CA388958029	248	P>L		No	ClinGen TOPMed
CA388958035 rs1566680635	248	P>S		No	ClinGen Ensembl
rs1404424716 CA388958021	249	P>S		No	ClinGen TOPMed
rs773419092 CA7108414	250	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201600502 CA7108413	250	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201600502 CA388957996	250	R>L		No	ClinGen ExAC TOPMed gnomAD
CA257724719 rs878931408	253	D>G		No	ClinGen gnomAD
CA7108411 rs776382429	254	M>V		No	ClinGen ExAC TOPMed gnomAD
CA257724714 rs953430604	255	L>F		No	ClinGen TOPMed gnomAD
rs369743782 CA7108410	255	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7108408 rs775194846	258	A>T		No	ClinGen ExAC TOPMed gnomAD
rs745854199 CA7108406	260	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388957748 rs1398969706	263	S>T		No	ClinGen gnomAD
CA388957695 rs1410264332	266	E>Q		No	ClinGen gnomAD
rs1239100993 CA388957668	267	E>*		No	ClinGen TOPMed
rs1159365337 CA388957646	268	S>A		No	ClinGen gnomAD
CA7108404 rs757040963	269	G>R		No	ClinGen ExAC gnomAD
rs1442102363 CA388957606	270	P>L		No	ClinGen TOPMed
rs749089379 CA7108403	271	G>E		No	ClinGen ExAC gnomAD
CA388957545 rs1185239885	273	T>I		No	ClinGen gnomAD
rs1185239885 CA388957551	273	T>N		No	ClinGen gnomAD
CA7108402 rs540473017	274	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs755254257 CA7108401	275	E>K		No	ClinGen ExAC gnomAD
CA7108400 rs751635736	275	E>V		No	ClinGen ExAC gnomAD
CA257724660 rs900653587	278	H>P		No	ClinGen TOPMed gnomAD
rs900653587 CA388957464	278	H>R		No	ClinGen TOPMed gnomAD
rs766522355 CA7108399	278	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA388957425 rs574783130	281	G>A		No	ClinGen gnomAD
rs574783130 CA257724651	281	G>E		No	ClinGen gnomAD
rs374503197 CA257724653	281	G>R		No	ClinGen ESP TOPMed gnomAD
CA7108398 rs758809596	283	T>A		No	ClinGen ExAC gnomAD
rs199624358 CA7108396	284	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs762200583 CA7108395	285	S>C		No	ClinGen ExAC TOPMed gnomAD
CA388957384 rs762200583	285	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1429326192 CA388957389	285	S>T		No	ClinGen gnomAD
CA388957359 rs1319124114	287	C>F		No	ClinGen gnomAD
CA388957362 rs1319124114	287	C>Y		No	ClinGen gnomAD
rs551489672 CA7108394	290	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1389323910 CA388957144 COSM954596	299	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs774828374 CA7108391	299	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7108392 rs774828374	299	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1389323910 CA388957139	299	R>S		No	ClinGen TOPMed gnomAD
rs771658477 CA388957100	301	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1242166141 CA388957093 COSM697486	301	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7108390 rs771658477	301	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1197592731 CA388957001	306	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7108371 rs201928747	307	K>E		No	ClinGen ExAC
rs1385401971 CA388955698	307	K>N		No	ClinGen TOPMed gnomAD
CA7108370 rs764589563	308	L>V		No	ClinGen ExAC gnomAD
rs1309656841 CA388955649	311	N>S		No	ClinGen gnomAD
CA7108369 rs760376973	312	V>L		No	ClinGen ExAC TOPMed gnomAD
CA388955630 rs1223444345	313	H>R		No	ClinGen gnomAD
rs909598827 CA257722101	314	N>K		No	ClinGen Ensembl
CA388955558 rs1285335952	318	N>D		No	ClinGen gnomAD
CA7108368 rs752340794	319	D>E		No	ClinGen ExAC gnomAD
rs767085101 CA7108367	322	F>V		No	ClinGen ExAC gnomAD
rs867582464 CA257722089	325	S>F		No	ClinGen Ensembl
TCGA novel	326	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388955389 rs1409144404	327	S>R		No	ClinGen gnomAD
rs1253435160 CA388955382	328	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7108343 rs762473616	329	K>T		No	ClinGen ExAC gnomAD
rs765164391 CA7108342	330	S>F		No	ClinGen ExAC gnomAD
rs765164391 CA7108341	330	S>Y		No	ClinGen ExAC gnomAD
CA388955310 rs1245453755	333	N>S		No	ClinGen gnomAD
rs149144438 CA7108339	334	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	334	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM348908 CA388955281 rs1259103728	335	S>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1314673254 CA388955266	336	V>A		No	ClinGen TOPMed gnomAD
rs776347050 CA7108338	336	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766439022 CA257721925	337	V>M		No	ClinGen TOPMed gnomAD
rs916201883 CA257721921	339	F>L		No	ClinGen TOPMed gnomAD
CA388955230 rs1384746935	339	F>L		No	ClinGen gnomAD
CA388955229 rs1384746935	339	F>V		No	ClinGen gnomAD
rs1427840250 CA388955189	342	E>Q		No	ClinGen TOPMed
TCGA novel	343	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388955064 rs1381645271	350	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7108337 rs772331300	352	P>A		No	ClinGen ExAC gnomAD
rs1468068441 CA388955053	352	P>L		No	ClinGen TOPMed
CA388955055 rs772331300	352	P>T		No	ClinGen ExAC gnomAD
CA388955015 rs1453967812	354	N>S		No	ClinGen gnomAD
rs1364523399 CA388954924	359	E>D		No	ClinGen gnomAD
rs755260913 CA7108305	362	G>E		No	ClinGen ExAC TOPMed gnomAD
rs991708114 CA257721911	362	G>R		No	ClinGen TOPMed
rs747378985 CA7108304	363	A>V		No	ClinGen ExAC gnomAD
CA7108302 rs779625511	365	V>A		No	ClinGen ExAC gnomAD
CA257720963 rs866599948	369	L>F		No	ClinGen TOPMed
CA257720957 rs145175744	373	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA7108301 COSM183200 rs758103437	373	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7108300 rs201780521	376	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7108299 COSM416238 rs778432140	376	R>H	Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA388954560 rs1378373775	381	P>A		No	ClinGen gnomAD
rs1435792627 CA388954537	384	G>D		No	ClinGen gnomAD
rs753666332 CA7108297	384	G>S		No	ClinGen ExAC gnomAD
rs764119648 CA7108296	388	K>R		No	ClinGen ExAC gnomAD
TCGA novel	389	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	389	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	390	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17851131 CA257720929	394	R>L		No	ClinGen ExAC TOPMed gnomAD
CA388954465 rs17851131	394	R>P		No	ClinGen ExAC TOPMed gnomAD
rs17851131 CA7108295 COSM3814512	394	R>Q	Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752601310 CA7108294	396	R>C		No	ClinGen ExAC TOPMed gnomAD
rs896312157 CA257720910	396	R>H		No	ClinGen TOPMed gnomAD
CA7108293 rs766708876	397	R>*		No	ClinGen ExAC gnomAD
CA7108292 rs763309358	397	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1375584441 CA388954448	398	Y>H		No	ClinGen TOPMed
rs769714470 CA7108290	399	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs571035369 CA7108291	399	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1382513774 CA388954398	402	A>T		No	ClinGen gnomAD
CA388954384 rs1313468460	403	N>D		No	ClinGen gnomAD
CA7108267 rs753389294	403	N>T		No	ClinGen ExAC gnomAD
rs777509752 CA7108266	404	R>*		No	ClinGen ExAC gnomAD
rs777509752 CA388954373	404	R>G		No	ClinGen ExAC gnomAD
COSM954595 CA7108265 rs375199270	404	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	405	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388954326 rs1165158055	408	M>V		No	ClinGen TOPMed
CA388954258 rs1387355602	413	P>S		No	ClinGen gnomAD
rs1465362084 CA388954225	415	D>G		No	ClinGen TOPMed
CA388954219 rs1332109662	416	Q>K		No	ClinGen TOPMed
CA257720724 rs866376987	416	Q>R		No	ClinGen Ensembl
CA388954204 rs912868784	417	R>C		No	ClinGen TOPMed gnomAD
CA257720722 rs912868784	417	R>G		No	ClinGen TOPMed gnomAD
CA7108262 rs759429838	417	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1185332952 CA388954193	418	L>P		No	ClinGen gnomAD
rs1190345508 CA388954112	424	E>D		No	ClinGen gnomAD
CA388954116 rs1240983386	424	E>G		No	ClinGen gnomAD
rs1286215851 CA388954079	427	M>T		No	ClinGen gnomAD
rs761742072 CA7108259	428	S>T		No	ClinGen ExAC gnomAD
CA7108258 rs776831743	431	E>A		No	ClinGen ExAC gnomAD
CA7108256 rs761209915	434	L>R		No	ClinGen ExAC gnomAD
rs150172494 CA7108255	435	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140810441 CA7108253	436	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7108252 rs778360819	438	G>R		No	ClinGen ExAC gnomAD
CA7108251 rs770626435	439	V>M		No	ClinGen ExAC gnomAD
rs1449739063 CA388953909	440	W>*		No	ClinGen gnomAD
rs1299028266 CA388953890	441	V>A		No	ClinGen gnomAD
rs1023343891 CA257720676	442	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA257720669 rs371284571	443	R>C		No	ClinGen ESP TOPMed
rs139611172 CA7108250	443	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201625315 CA7108248	446	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143379381 CA7108247	446	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs143379381 CA388953840	446	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189793867 CA388953834	447	F>L		No	ClinGen TOPMed
CA7108245 rs754753731	448	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139896542 CA7108246	448	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168985281 CA388953813	449	A>T		No	ClinGen gnomAD
CA7108244 rs751386041	450	Q>R		No	ClinGen ExAC gnomAD
CA7108243 rs150592497	451	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199579220 CA7108242	451	R>H		No	ClinGen ExAC gnomAD
CA7108241 rs756163727	456	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA388953716 rs1594583493	457	Y>H		No	ClinGen Ensembl
CA7108240 rs764283356	458	H>Q		No	ClinGen ExAC gnomAD
CA388953699 rs1320076181	458	H>Y		No	ClinGen gnomAD
rs77775453 CA257720643	461	A>V		No	ClinGen Ensembl
CA388953604 rs1302713549	465	H>P		No	ClinGen TOPMed
rs775931819 CA7108238	465	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs201544800 CA257720637	468	K>E		No	ClinGen Ensembl
CA388953564 rs1436859650	469	A>T		No	ClinGen gnomAD
rs1419019672 CA388953548	470	N>S		No	ClinGen gnomAD
TCGA novel	470	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768012200 CA7108237	471	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759834095 CA7108236	471	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768012200 CA388953540	471	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	473	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175134021 CA388952930	473	Y>C		No	ClinGen gnomAD
rs1479186396 CA388952915	474	G>E		No	ClinGen TOPMed gnomAD
rs1479186396 CA388952911	474	G>V		No	ClinGen TOPMed gnomAD
rs1254971077 CA388952863	479	R>G		No	ClinGen TOPMed
rs770462277 CA7108234	479	R>K		No	ClinGen ExAC gnomAD
CA7108230 rs747666701	481	P>L		No	ClinGen ExAC gnomAD
CA7108228 rs755026329	490	P>L		No	ClinGen ExAC gnomAD
rs1203060175 CA388952785	490	P>T		No	ClinGen gnomAD
CA7108226 rs779937802	491	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388952780 rs779937802	491	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1033760061 CA257720542	492	L>P		No	ClinGen TOPMed
rs1194586898 CA388952752	495	P>S		No	ClinGen TOPMed
rs369770761 CA7108224	496	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7108221 rs200546806	501	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1431730242	501	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201601407 CA7108220	503	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7108219 rs767995896	505	G>A		No	ClinGen ExAC gnomAD
CA388952679 rs1594582500	505	G>R		No	ClinGen Ensembl
rs760132892 CA7108218	507	E>K		No	ClinGen ExAC TOPMed gnomAD
rs202244698 CA7108217	508	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388952650 rs1418198421	509	A>S		No	ClinGen gnomAD
rs766721014 CA7108216	511	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7108214 rs569598847	514	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1566663012 CA388952592	518	P>H		No	ClinGen Ensembl
CA7108213 rs769584408	518	P>T		No	ClinGen ExAC gnomAD
rs1211054228 CA388952588	519	H>Y		No	ClinGen gnomAD
rs1282457043 CA388952570	521	T>N		No	ClinGen gnomAD
CA7108212 rs761397472	523	C>Y		No	ClinGen ExAC gnomAD
rs768682499 CA7108210	524	P>R		No	ClinGen ExAC gnomAD
rs368902387 CA7108211	524	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388952527 rs1401002169	527	N>K		No	ClinGen TOPMed
CA388952463 rs1302963539	536	K>R		No	ClinGen gnomAD
rs1182558962 CA613316340	538	E>K		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H972

No regional properties for Q9H972

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H972

Functions

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

1 GO annotations of cellular component

Name	Definition
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

1 GO annotations of molecular function

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

3 GO annotations of biological process

Name	Definition
anatomical structure development	The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8K2W9		Uncharacterized protein C14orf93 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSFSATILFS	PPSGSEARCC	CCACKSETNG	GNTGSQGGNP	PPSTPITVTG	HGLAVQSSEQ
70	80	90	100	110	120
LLHVIYQRVD	KAVGLAEAAL	GLARANNELL	KRLQEEVGDL	RQGKVSIPDE	DGESRAHSSP
130	140	150	160	170	180
PEEPGPLKES	PGEAFKALSA	VEEECDSVGS	GVQVVIEELR	QLGAASVGPG	PLGFPATQRD
190	200	210	220	230	240
MRLPGCTLAA	SEAAPLLNPL	VDDYVASEGA	VQRVLVPAYA	KQLSPATQLA	IQRATPETGP
250	260	270	280	290	300
ENGTKLPPPR	PEDMLNAAAA	LDSALEESGP	GSTGELRHSL	GLTVSPCRTR	GSGQKNSRRK
310	320	330	340	350	360
RDLVLSKLVH	NVHNHITNDK	RFNGSESIKS	SWNISVVKFL	LEKLKQELVT	SPHNYTDKEL
370	380	390	400	410	420
KGACVAYFLT	KRREYRNSLN	PFKGLKEKEE	KKLRSRRYRL	FANRSSIMRH	FGPEDQRLWN
430	440	450	460	470	480
DVTEELMSDE	EDSLNEPGVW	VARPPRFRAQ	RLTELCYHLD	ANSKHGTKAN	RVYGPPSDRL
490	500	510	520	530
PSAEAQLLPP	ELYNPNFQEE	EDEGGDENAP	GSPSFDQPHK	TCCPDLNSFI	EIKVEKDE