AiPD: Autoinhibited Protein Database

Q53HC0

Gene name	CCDC92
Protein name	Coiled-coil domain-containing protein 92
Names	Limkain beta-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80212
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

93-246 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

93-246 (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 Q53HC0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q53HC0-F1	Predicted				AlphaFoldDB

299 variants for Q53HC0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6866718 rs764523315	3	S>L		No	ClinGen ExAC gnomAD
CA6866717 rs763053604	5	H>Y		No	ClinGen ExAC gnomAD
rs143890190 CA6866716	7	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408835440 CA387201006	8	S>I		No	ClinGen gnomAD
CA387200995 rs1304371472	10	D>N		No	ClinGen TOPMed gnomAD
rs1349187927 CA387200983	11	E>G		No	ClinGen gnomAD
CA6866689 rs767605169	12	G>D		No	ExAC gnomAD ClinGen
rs1335135950 CA387200953	14	L>P		No	TOPMed ClinGen
rs1487102690 CA387200948	15	D>G		No	ClinGen gnomAD
CA387200946 rs1487102690	15	D>V		No	ClinGen gnomAD
CA387200943 rs1594458344	16	V>I		No	ClinGen Ensembl
rs1208454220 CA387200925	18	M>T		No	gnomAD ClinGen
CA387200928 rs1249192316	18	M>V		No	ClinGen gnomAD
rs773969464 CA6866687	19	A>P		No	ExAC gnomAD ClinGen
CA387200904 rs1265437054	21	T>I		No	ClinGen gnomAD
rs1448273354 CA387200902	22	N>D		No	TOPMed ClinGen
rs1311315743 CA387200883	24	E>D		No	ClinGen TOPMed gnomAD
CA387200886 rs1223708727	24	E>G		No	gnomAD ClinGen
rs768064944 CA6866686	25	N>S		No	ClinGen ExAC gnomAD
CA387200869 rs1347874629	26	Q>H		No	ClinGen TOPMed
rs963926058 CA245212556	27	L>P		No	ClinGen TOPMed gnomAD
rs34599389 CA6866684	28	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs748768885 CA6866685	28	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6866683 rs769441748	29	S>N		No	ExAC TOPMed gnomAD ClinGen
CA387200851 rs541227181	29	S>R		No	1000Genomes ExAC gnomAD ClinGen
CA6866681 rs150024637	30	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6866680 rs758959333	30	A>V		No	ExAC gnomAD ClinGen
CA6866679 rs748663267	32	K>N		No	ExAC gnomAD ClinGen
CA6866678 rs779406895	33	N>D		No	ExAC gnomAD ClinGen
CA6866677 rs755044224	33	N>K		No	ExAC TOPMed gnomAD ClinGen
rs967129822 CA245212553	34	L>F		No	ClinGen TOPMed
CA387200813 rs1391272174	36	F>V		No	gnomAD ClinGen
CA6866676 rs376515224	39	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448241548 CA387200759	44	T>A		No	ClinGen gnomAD
CA6866675 rs139365870	44	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6866671 rs200185333	46	K>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1253914589 CA387200748	46	K>Q		No	ClinGen gnomAD
CA6866670 rs774161061	47	G>W		No	ExAC gnomAD ClinGen
CA6866668 rs753848940	51	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6866667 rs775046340	52	I>M		No	ClinGen ExAC gnomAD
CA6866665 rs575564869	54	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769500480 CA6866666	54	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA387200660 rs1463766084	59	C>Y		No	ClinGen gnomAD
rs776204383 CA6866664	60	T>K		No	ClinGen ExAC gnomAD
rs777622722 CA6866633	63	T>I		No	ExAC gnomAD ClinGen
CA6866631 rs752682134	64	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	66	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387200285 rs1221676061	66	L>V		No	TOPMed ClinGen
rs1262253994 CA387200267	68	V>I		No	ClinGen gnomAD
rs1594456063 CA387200253	69	K>R		No	Ensembl ClinGen
VAR_030301 rs11057401 CA6866629	70	S>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1202205954 CA387200232	70	S>N		No	TOPMed gnomAD ClinGen
rs11057401 CA387200236	70	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA6866628 COSM936686 rs143142884	71	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs143142884 CA245212453	71	S>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1408289439 CA387200204	72	E>Q		No	ClinGen gnomAD
CA387200182 rs1417519108	73	Q>E		No	Ensembl ClinGen
TCGA novel	74	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387200161 rs1324365422	75	G>R		No	gnomAD ClinGen
CA387199334 rs1448864822	77	G>E		No	ClinGen gnomAD
rs775978105 CA6866605	77	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6866604 rs765888240	78	T>I		No	ClinGen ExAC gnomAD
TCGA novel	80	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387199296 rs1205347023	81	S>T		No	gnomAD ClinGen
CA387199285 rs1391829354	82	S>I		No	ClinGen TOPMed
CA387199279 rs1444275597	83	E>K		No	gnomAD ClinGen
rs201517947 CA6866602	85	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6866600 rs771043483	87	R>T		No	ClinGen ExAC TOPMed gnomAD
rs573154431 CA6866598	90	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1594443453 CA387199183	92	E>K		No	ClinGen Ensembl
rs200385849 CA6866597	93	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747976096 CA6866596	93	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200883084 CA387199159	94	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778675070 CA6866595	94	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs184378821 COSM170597 CA6866590	101	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs184378821 CA245211331	101	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1473017807 CA387199067	103	A>V		No	ClinGen gnomAD
TCGA novel	106	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440973682 CA387199038	106	L>S		No	gnomAD ClinGen
CA6866588 rs756831339	109	L>R		No	ExAC TOPMed gnomAD ClinGen
CA6866587 rs753183790	110	E>Q		No	ExAC gnomAD ClinGen
CA245211326 rs370285111	111	Q>*		No	ClinGen ESP TOPMed
CA6866585 rs202226542	114	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6866584 rs777304210	114	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6866581 rs773134124	115	M>K		No	ExAC TOPMed gnomAD ClinGen
rs773134124 CA245211319	115	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6866582 rs760855449	115	M>V		No	ExAC gnomAD ClinGen
rs762009006 CA6866579	117	T>A		No	ExAC TOPMed gnomAD ClinGen
CA245211315 rs865975725	117	T>I		No	ClinGen Ensembl
CA387198913 rs1368579388	118	V>A		No	ClinGen TOPMed gnomAD
rs1346393740 CA387198908	119	L>P		No	TOPMed ClinGen
CA387198882 rs143608456	121	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768445428 CA6866577	121	N>S		No	ExAC gnomAD ClinGen
CA387198872 rs1161304988	122	T>I		No	ClinGen gnomAD
rs777805548 CA245211306	123	I>T		No	Ensembl ClinGen
rs1189402811 CA387198860	124	K>E		No	ClinGen Ensembl
CA387198850 rs1254245039	125	E>K		No	gnomAD ClinGen
rs1182935825 CA387198835	126	R>Q		No	ClinGen TOPMed gnomAD
rs780064664 CA6866575	127	E>D		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	129	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769598142 CA6866574	130	Y>F		No	ExAC gnomAD ClinGen
TCGA novel	134	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387198734 rs1453659695	137	K>R		No	ClinGen Ensembl
CA245211301 rs149289004	140	K>R		No	ESP TOPMed gnomAD ClinGen
CA387198699 rs1487763202	142	T>N		No	TOPMed ClinGen
rs1225223106 CA387198694	143	L>Q		No	TOPMed ClinGen
CA6866571 rs757033113	144	L>Q		No	ExAC gnomAD ClinGen
rs1269962386 CA387198687	145	S>P		No	TOPMed ClinGen
rs777524677 CA6866569	147	E>K		No	ExAC gnomAD ClinGen
rs528091347 CA6866568	149	E>K		No	1000Genomes ExAC gnomAD ClinGen
CA387198649 rs1227456683	150	Q>L		No	ClinGen gnomAD
rs766947844 CA6866567	151	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6866566 rs766947844	151	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1191133385 CA387198645 COSM936684	151	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA387198643 rs1163408567	152	A>T		No	TOPMed ClinGen
TCGA novel	153	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387198624 rs1348088854	154	T>I		No	ClinGen TOPMed
CA387198620 rs1426398142	155	I>N		No	ClinGen TOPMed
rs200893122 CA6866563	156	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761814821 CA6866562	157	Y>C		No	ClinGen ExAC gnomAD
rs1397908454 CA387198610	157	Y>H		No	TOPMed ClinGen
TCGA novel	157	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387198604 rs1458646471	158	L>V		No	ClinGen TOPMed gnomAD
CA387198594 rs1414399813	159	T>I		No	TOPMed gnomAD ClinGen
CA6866560 rs768819776	164	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6866558 rs140945803	165	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA6866557 rs140945803	165	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566142150 CA387198556	166	K>E		No	ClinGen Ensembl
rs781130374 CA6866555	168	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1566142104 CA387198534	169	L>F		No	Ensembl ClinGen
CA387198522 rs1488205334	170	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA387198527 rs1212161770	170	M>V		No	ClinGen gnomAD
rs770592291 CA6866553	171	S>R		No	ExAC gnomAD ClinGen
rs758420754 CA245211282	172	S>P		No	Ensembl ClinGen
CA387198501 rs746464773	173	S>R		No	ClinGen ExAC TOPMed gnomAD
CA387198497 rs1180782439	174	G>A		No	ClinGen TOPMed
CA6866551 rs777614867	174	G>R		No	ClinGen ExAC gnomAD
rs1302684720 CA387198478	177	D>G		No	gnomAD ClinGen
rs898908164 CA387198472	178	A>D		No	ClinGen Ensembl
rs898908164 CA245211276	178	A>G		No	ClinGen Ensembl
rs758089612 CA6866550	178	A>T		No	ExAC gnomAD ClinGen
CA387198457 rs1437247239	180	P>L		No	TOPMed gnomAD ClinGen
CA387198462 rs1273028017	180	P>T		No	gnomAD ClinGen
rs1164210220 CA387198435 COSM692440	184	P>T	lung [Cosmic]	No	TOPMed ClinGen cosmic curated
CA387198429 rs375777447	185	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA6866548 rs375777447	185	V>M	Variant assessed as Somatic; 0.0004834 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA387198402 rs1160958150	189	Y>C		No	ClinGen TOPMed
rs756443057 CA6866547	190	K>R		No	ExAC TOPMed gnomAD ClinGen
rs373710834 CA6866546	192	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA245211269 rs369556523	193	P>L		No	ClinGen ESP gnomAD
rs137881473 CA6866544	193	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs137881473 CA6866543	193	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764341645 CA387198374	194	P>H		No	ExAC TOPMed gnomAD ClinGen
CA6866542 rs764341645	194	P>R		No	ExAC TOPMed gnomAD ClinGen
rs771590551	195	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA387198358 CA245211263 rs908706507	196	D>E		No	TOPMed gnomAD ClinGen
rs1404252578 CA387198339	199	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA387198335 rs1311080176	200	E>G		No	gnomAD ClinGen
rs775416812 CA6866538	200	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs150284078 CA6866537	201	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387198320 rs1470526730	203	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200976444 CA6866535	203	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6866534 rs770966187	204	R>C		No	ClinGen ExAC gnomAD
rs746554659 CA6866533	204	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6866532 rs772842988	205	R>C		No	ExAC TOPMed gnomAD ClinGen
CA6866530 rs747767968	205	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6866531 rs747767968	205	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778561559 CA6866529	206	M>V		No	ExAC TOPMed gnomAD ClinGen
CA6866528 rs756466263	207	K>R		No	ExAC TOPMed gnomAD ClinGen
CA387198292 rs1432102598	208	K>E		No	gnomAD ClinGen
CA387198275 rs1188282936	210	L>F		No	gnomAD ClinGen
rs781701790 CA6866526	210	L>P		No	ExAC gnomAD ClinGen
rs559698435 CA245211245	215	H>Q		No	ClinGen 1000Genomes
rs765763703 CA245211243	216	P>L		No	TOPMed gnomAD ClinGen
CA387198238 rs1277499691	216	P>S		No	ClinGen gnomAD
rs752871572 CA6866521	217	E>K		No	ExAC gnomAD ClinGen
TCGA novel	220	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765446883 CA6866520	221	V>F		No	ExAC TOPMed gnomAD ClinGen
rs201150051 CA6866519	223	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs766488444 CA6866518	224	F>L		No	ExAC TOPMed gnomAD ClinGen
CA245211238 rs267603366	224	F>S		No	ClinGen Ensembl
CA6866516 rs760674981 CA387198178	225	G>R		No	ClinGen ExAC gnomAD
CA387198175 rs1374594704	225	G>V		No	TOPMed ClinGen
rs1260919791 CA387198174	226	A>T		No	TOPMed ClinGen
rs1311068677 CA387198169	226	A>V		No	ClinGen gnomAD
CA6866515 rs773223947	228	S>G		No	ExAC gnomAD ClinGen
rs1371659487 CA387198135	231	L>P		No	ClinGen gnomAD
TCGA novel	233	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6866513 rs200277506	234	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
COSM936683 CA387198119 rs1460952697	234	R>W	Variant assessed as Somatic; 4.657e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs768333786 CA245211226	239	A>S		No	ExAC gnomAD ClinGen
rs768333786 CA6866511	239	A>T		No	ExAC gnomAD ClinGen
CA387198076 rs1190262527 CA387198077	240	M>I		No	ClinGen TOPMed
rs781534968 CA6866509	242	D>N		No	ClinGen ExAC TOPMed gnomAD
CA387198059 rs1194005692	243	P>S		No	ClinGen gnomAD
rs747530799 CA6866507	244	T>P		No	ExAC gnomAD ClinGen
TCGA novel	247	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399723112 CA387198027	248	L>R		No	ClinGen TOPMed
rs1227836627 CA387198026	249	A>T		No	gnomAD ClinGen
CA387198002 rs1408274085	252	S>Y		No	TOPMed ClinGen
rs35935939 CA6866501 VAR_050765	253	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs760478976 CA6866499	254	E>K		No	ExAC TOPMed gnomAD ClinGen
rs1566140446 CA387197978	256	H>P		No	ClinGen Ensembl
rs1457739118 CA387197971	257	L>F		No	gnomAD ClinGen
rs750417728 CA6866498	258	I>N		No	ExAC gnomAD ClinGen
CA387197966 rs1416214124	258	I>V		No	gnomAD ClinGen
rs767440353 CA6866497	260	E>*		No	ClinGen ExAC gnomAD
rs767440353 CA245211210	260	E>K		No	ClinGen ExAC gnomAD
rs1281728141 CA387197945	261	R>K		No	ClinGen TOPMed
CA6866496 rs776907090	262	P>L		No	ExAC TOPMed gnomAD ClinGen
CA387197938 rs1400014090	262	P>S		No	gnomAD ClinGen
CA6866493 rs762582864	264	V>I		No	ClinGen ExAC TOPMed gnomAD
rs375441686 CA387197920	265	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs775068543 CA6866492	265	I>N		No	ExAC gnomAD ClinGen
rs775068543 CA245211201	265	I>S		No	ExAC gnomAD ClinGen
rs1210815985 CA387197918	266	P>A		No	ClinGen gnomAD
rs1330145699 CA387197916	266	P>H		No	gnomAD ClinGen
rs1210815985 CA387197917	266	P>S		No	ClinGen gnomAD
rs1047655593 CA245211197	267	P>A		No	TOPMed gnomAD ClinGen
rs371367334 CA6866488	267	P>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs371367334 CA387197911	267	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371367334 CA6866489	267	P>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA387197913 rs1047655593	267	P>T		No	ClinGen TOPMed gnomAD
rs773752200	268	I>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs754952662 CA6866485	268	I>L		No	ClinGen ExAC TOPMed
CA387197904 rs1440878962	268	I>N		No	gnomAD ClinGen
rs773752200	268	I>S	Variant assessed as Somatic; 0.0001031 impact. [NCI-TCGA]	No	NCI-TCGA
CA6866482 rs367836688	269	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs575729715 CA6866480	271	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387197869 rs575729715	271	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6866479 rs557015529	272	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1377746932 CA387197849	273	S>G		No	gnomAD ClinGen
CA245211186 rs1011724540	273	S>R		No	ClinGen TOPMed
rs375219968 CA387197835	274	G>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA387197830 rs1452576522	274	G>D		No	gnomAD ClinGen
rs375219968 CA6866478 COSM1605732	274	G>S	liver [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs762385624 CA6866475	275	E>G		No	ClinGen ExAC TOPMed gnomAD
CA6866476 rs763676420	275	E>K		No	ClinGen ExAC gnomAD
rs1283853137 CA387197809	276	Q>E		No	ClinGen gnomAD
rs775158461 CA6866474	276	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA245211179 rs1001610609	277	H>Q		No	TOPMed gnomAD ClinGen
CA6866472 rs140865573	279	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs769392304 CA387197766	279	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs769392304 CA6866473	279	P>T		No	ExAC gnomAD ClinGen
CA387197754 rs1436314672	280	A>V		No	ClinGen gnomAD
CA6866470 rs550237057	281	R>C		No	ExAC gnomAD ClinGen
CA387197747 rs550237057	281	R>G		No	ExAC gnomAD ClinGen
CA6866469 rs17886730 VAR_030302	281	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1172537246 CA387197735	282	E>K		No	ClinGen TOPMed gnomAD
rs200979183 CA6866467	284	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432720974 CA387197692	284	P>S		No	ClinGen gnomAD
CA387197675 rs1293472813	285	H>Q		No	ClinGen gnomAD
CA387197677 rs1448621465	285	H>R		No	gnomAD ClinGen
CA6866464 rs750311604	288	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6866462 rs34103982	289	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA245211165 rs962982196	290	G>A		No	ClinGen TOPMed gnomAD
rs1210262937 CA387197613	290	G>R		No	gnomAD ClinGen
rs1594439598 CA387197587	291	V>G		No	ClinGen Ensembl
rs763901244 CA6866459	292	A>S		No	ExAC gnomAD ClinGen
CA6866458 rs138659670	293	H>R		No	ESP ExAC gnomAD ClinGen
CA387197561 rs1016337164	294	R>G		No	TOPMed gnomAD ClinGen
CA6866457 rs371993242	294	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA245211162 COSM202858 rs1016337164	294	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6866456 rs764932395	295	I>L		No	ExAC gnomAD ClinGen
CA387197542 rs1371921840	296	H>P		No	ClinGen gnomAD
CA387197543 rs1412411466	296	H>Y		No	gnomAD ClinGen
CA6866454 rs776087763	298	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762042535 CA6866453	299	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1164797678 CA387197510	299	T>I		No	ClinGen TOPMed gnomAD
rs762042535 CA6866452	299	T>P		No	ExAC TOPMed gnomAD ClinGen
CA6866451 rs774954540	300	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1348825981 CA387197503	300	P>S		No	TOPMed ClinGen
CA6866448 rs775697940	301	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1254118422 CA387197490	302	Q>*		No	ClinGen TOPMed gnomAD
rs746104723 CA6866446	303	A>T		No	ClinGen ExAC
TCGA novel	304	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781210447 CA6866444	304	Q>E		No	ExAC TOPMed gnomAD ClinGen
COSM1359875 CA6866443 rs757094564	304	Q>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA387197455 rs1566139266	304	Q>P		No	ClinGen Ensembl
rs967468364 CA245211144	305	P>S		No	ClinGen TOPMed gnomAD
rs777802261 CA6866441	306	E>K		No	ExAC TOPMed gnomAD ClinGen
CA6866440 rs199932702	308	K>N		No	1000Genomes ExAC gnomAD ClinGen
CA6866439 rs371331413	309	T>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA387197386 rs368325953	311	A>E		No	ClinGen ESP ExAC gnomAD
rs368325953 CA6866436	311	A>V		No	ClinGen ESP ExAC gnomAD
CA245211133 rs774556689	313	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6866433 rs774556689	313	D>N		No	ExAC TOPMed gnomAD ClinGen
CA387197350 rs1566139033	314	Q>H		No	ClinGen Ensembl
rs370479179 CA6866431	317	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1177866107 CA387197313	318	G>D		No	gnomAD ClinGen
rs1594438850 CA387197285	321	V>E		No	ClinGen Ensembl
CA387197283 rs1470013253	322	R>G		No	ClinGen gnomAD
rs776071974 CA6866430	322	R>K		No	ClinGen ExAC gnomAD
CA6866428 rs745884206	324	H>Y		No	ClinGen ExAC gnomAD
rs372584509 CA6866426	326	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA6866425 rs199877368	327	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs771790655 CA6866423	330	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	330	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421301423 CA387197188	332	V>R		No	ClinGen TOPMed

No associated diseases with Q53HC0

1 regional properties for Q53HC0

Type	Name	Position	InterPro Accession
domain	1,3-beta-glucan synthase component FKS1-like, domain-1	318 - 430	IPR026899

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.

2 GO annotations of biological process

Name	Definition
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
regulation of defense response to virus	Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VDN4	Ccdc92	Coiled-coil domain-containing protein 92	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTSPHFSSYD	EGPLDVSMAA	TNLENQLHSA	QKNLLFLQRE	HASTLKGLHS	EIRRLQQHCT
70	80	90	100	110	120
DLTYELTVKS	SEQTGDGTSK	SSELKKRCEE	LEAQLKVKEN	ENAELLKELE	QKNAMITVLE
130	140	150	160	170	180
NTIKEREKKY	LEELKAKSHK	LTLLSSELEQ	RASTIAYLTS	QLHAAKKKLM	SSSGTSDASP
190	200	210	220	230	240
SGSPVLASYK	PAPPKDKLPE	TPRRRMKKSL	SAPLHPEFEE	VYRFGAESRK	LLLREPVDAM
250	260	270	280	290	300
PDPTPFLLAR	ESAEVHLIKE	RPLVIPPIAS	DRSGEQHSPA	REKPHKAHVG	VAHRIHHATP
310	320	330
PQAQPEVKTL	AVDQVNGGKV	VRKHSGTDRT	V