Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10973
Gene name	Activating signal cointegrator 1 complex subunit 3
Gene symbol	ASCC3
Synonyms (NCBI Gene)	ASC1p200HELIC1MRT81RNAH
Chromosome	6
Chromosome location	6q16.3
Summary	This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022461	hsa-miR-124-3p	Microarray	18668037
MIRT027593	hsa-miR-98-5p	Microarray	19088304
MIRT028510	hsa-miR-30a-5p	Proteomics	18668040
MIRT031604	hsa-miR-16-5p	Proteomics	18668040
MIRT032308	hsa-let-7b-5p	Proteomics	18668040
MIRT052581	hsa-let-7a-5p	CLASH	23622248
MIRT051396	hsa-let-7f-5p	CLASH	23622248
MIRT039333	hsa-miR-425-5p	CLASH	23622248
MIRT036492	hsa-miR-1226-3p	CLASH	23622248
MIRT802620	hsa-miR-101	CLIP-seq
MIRT802621	hsa-miR-1184	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT802623	hsa-miR-1273g	CLIP-seq
MIRT802624	hsa-miR-1297	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT802626	hsa-miR-200b	CLIP-seq
MIRT802627	hsa-miR-200c	CLIP-seq
MIRT802628	hsa-miR-2053	CLIP-seq
MIRT802629	hsa-miR-217	CLIP-seq
MIRT802630	hsa-miR-26a	CLIP-seq
MIRT802631	hsa-miR-26b	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802633	hsa-miR-30a	CLIP-seq
MIRT802634	hsa-miR-30b	CLIP-seq
MIRT802635	hsa-miR-30c	CLIP-seq
MIRT802636	hsa-miR-30d	CLIP-seq
MIRT802637	hsa-miR-30e	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802639	hsa-miR-3922-5p	CLIP-seq
MIRT802640	hsa-miR-4252	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT802642	hsa-miR-4289	CLIP-seq
MIRT802643	hsa-miR-429	CLIP-seq
MIRT802644	hsa-miR-4318	CLIP-seq
MIRT802645	hsa-miR-4418	CLIP-seq
MIRT802646	hsa-miR-4465	CLIP-seq
MIRT802647	hsa-miR-4470	CLIP-seq
MIRT802648	hsa-miR-4495	CLIP-seq
MIRT802649	hsa-miR-4691-3p	CLIP-seq
MIRT802650	hsa-miR-4716-5p	CLIP-seq
MIRT802651	hsa-miR-4717-5p	CLIP-seq
MIRT802652	hsa-miR-4719	CLIP-seq
MIRT802653	hsa-miR-4753-5p	CLIP-seq
MIRT802654	hsa-miR-4777-5p	CLIP-seq
MIRT802655	hsa-miR-4799-5p	CLIP-seq
MIRT802656	hsa-miR-498	CLIP-seq
MIRT802657	hsa-miR-509-3-5p	CLIP-seq
MIRT802658	hsa-miR-509-5p	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT802660	hsa-miR-1251	CLIP-seq
MIRT802661	hsa-miR-15a	CLIP-seq
MIRT802662	hsa-miR-15b	CLIP-seq
MIRT802663	hsa-miR-16	CLIP-seq
MIRT802664	hsa-miR-195	CLIP-seq
MIRT802633	hsa-miR-30a	CLIP-seq
MIRT802634	hsa-miR-30b	CLIP-seq
MIRT802635	hsa-miR-30c	CLIP-seq
MIRT802636	hsa-miR-30d	CLIP-seq
MIRT802637	hsa-miR-30e	CLIP-seq
MIRT802665	hsa-miR-3667-3p	CLIP-seq
MIRT802666	hsa-miR-3671	CLIP-seq
MIRT802667	hsa-miR-371b-5p	CLIP-seq
MIRT802668	hsa-miR-3942-3p	CLIP-seq
MIRT802669	hsa-miR-411	CLIP-seq
MIRT802670	hsa-miR-424	CLIP-seq
MIRT802671	hsa-miR-4524	CLIP-seq
MIRT802649	hsa-miR-4691-3p	CLIP-seq
MIRT802672	hsa-miR-497	CLIP-seq
MIRT802673	hsa-miR-503	CLIP-seq
MIRT802674	hsa-miR-618	CLIP-seq
MIRT802675	hsa-miR-633	CLIP-seq
MIRT802676	hsa-miR-646	CLIP-seq
MIRT802677	hsa-miR-936	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT802656	hsa-miR-498	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT802620	hsa-miR-101	CLIP-seq
MIRT1937009	hsa-miR-329	CLIP-seq
MIRT1937010	hsa-miR-362-3p	CLIP-seq
MIRT1937011	hsa-miR-371-5p	CLIP-seq
MIRT1937012	hsa-miR-3941	CLIP-seq
MIRT1937013	hsa-miR-433	CLIP-seq
MIRT1937014	hsa-miR-4645-3p	CLIP-seq
MIRT1937015	hsa-miR-4789-3p	CLIP-seq
MIRT1937016	hsa-miR-514	CLIP-seq
MIRT1937017	hsa-miR-514b-3p	CLIP-seq
MIRT1937018	hsa-miR-603	CLIP-seq
MIRT1937019	hsa-miR-642b	CLIP-seq
MIRT802620	hsa-miR-101	CLIP-seq
MIRT802621	hsa-miR-1184	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT2176781	hsa-miR-1273f	CLIP-seq
MIRT802623	hsa-miR-1273g	CLIP-seq
MIRT2176782	hsa-miR-127-5p	CLIP-seq
MIRT2176783	hsa-miR-1289	CLIP-seq
MIRT802624	hsa-miR-1297	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT2176784	hsa-miR-143	CLIP-seq
MIRT802626	hsa-miR-200b	CLIP-seq
MIRT802627	hsa-miR-200c	CLIP-seq
MIRT802629	hsa-miR-217	CLIP-seq
MIRT802630	hsa-miR-26a	CLIP-seq
MIRT802631	hsa-miR-26b	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802633	hsa-miR-30a	CLIP-seq
MIRT802634	hsa-miR-30b	CLIP-seq
MIRT802635	hsa-miR-30c	CLIP-seq
MIRT802636	hsa-miR-30d	CLIP-seq
MIRT802637	hsa-miR-30e	CLIP-seq
MIRT2176785	hsa-miR-3177-5p	CLIP-seq
MIRT2176786	hsa-miR-3198	CLIP-seq
MIRT2176787	hsa-miR-3607-5p	CLIP-seq
MIRT2176788	hsa-miR-3682-5p	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802639	hsa-miR-3922-5p	CLIP-seq
MIRT802640	hsa-miR-4252	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT2176789	hsa-miR-4282	CLIP-seq
MIRT802642	hsa-miR-4289	CLIP-seq
MIRT802643	hsa-miR-429	CLIP-seq
MIRT2176790	hsa-miR-4294	CLIP-seq
MIRT2176791	hsa-miR-4309	CLIP-seq
MIRT802644	hsa-miR-4318	CLIP-seq
MIRT802645	hsa-miR-4418	CLIP-seq
MIRT802646	hsa-miR-4465	CLIP-seq
MIRT802647	hsa-miR-4470	CLIP-seq
MIRT802648	hsa-miR-4495	CLIP-seq
MIRT2176792	hsa-miR-4635	CLIP-seq
MIRT2176793	hsa-miR-4666-5p	CLIP-seq
MIRT802649	hsa-miR-4691-3p	CLIP-seq
MIRT2176794	hsa-miR-4708-5p	CLIP-seq
MIRT802650	hsa-miR-4716-5p	CLIP-seq
MIRT2176795	hsa-miR-4733-5p	CLIP-seq
MIRT2176796	hsa-miR-4770	CLIP-seq
MIRT2176797	hsa-miR-491-3p	CLIP-seq
MIRT802656	hsa-miR-498	CLIP-seq
MIRT802657	hsa-miR-509-3-5p	CLIP-seq
MIRT802658	hsa-miR-509-5p	CLIP-seq
MIRT2176798	hsa-miR-526b	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT2176799	hsa-miR-600	CLIP-seq
MIRT2176800	hsa-miR-668	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT802624	hsa-miR-1297	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT802630	hsa-miR-26a	CLIP-seq
MIRT802631	hsa-miR-26b	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802639	hsa-miR-3922-5p	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT802646	hsa-miR-4465	CLIP-seq
MIRT802647	hsa-miR-4470	CLIP-seq
MIRT802656	hsa-miR-498	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT802640	hsa-miR-4252	CLIP-seq
MIRT2444086	hsa-miR-297	CLIP-seq
MIRT2176793	hsa-miR-4666-5p	CLIP-seq
MIRT2444087	hsa-miR-567	CLIP-seq
MIRT802620	hsa-miR-101	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT2176781	hsa-miR-1273f	CLIP-seq
MIRT802623	hsa-miR-1273g	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT2480150	hsa-miR-141	CLIP-seq
MIRT2176784	hsa-miR-143	CLIP-seq
MIRT2480151	hsa-miR-200a	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802633	hsa-miR-30a	CLIP-seq
MIRT802634	hsa-miR-30b	CLIP-seq
MIRT802635	hsa-miR-30c	CLIP-seq
MIRT802636	hsa-miR-30d	CLIP-seq
MIRT802637	hsa-miR-30e	CLIP-seq
MIRT2480152	hsa-miR-3156-5p	CLIP-seq
MIRT2480153	hsa-miR-3618	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802639	hsa-miR-3922-5p	CLIP-seq
MIRT802640	hsa-miR-4252	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT2480154	hsa-miR-4263	CLIP-seq
MIRT2176789	hsa-miR-4282	CLIP-seq
MIRT802642	hsa-miR-4289	CLIP-seq
MIRT802647	hsa-miR-4470	CLIP-seq
MIRT802648	hsa-miR-4495	CLIP-seq
MIRT2176794	hsa-miR-4708-5p	CLIP-seq
MIRT802650	hsa-miR-4716-5p	CLIP-seq
MIRT2176796	hsa-miR-4770	CLIP-seq
MIRT802656	hsa-miR-498	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT2480155	hsa-miR-576-5p	CLIP-seq
MIRT2480156	hsa-miR-934	CLIP-seq
MIRT802620	hsa-miR-101	CLIP-seq
MIRT802622	hsa-miR-1193	CLIP-seq
MIRT2176781	hsa-miR-1273f	CLIP-seq
MIRT802623	hsa-miR-1273g	CLIP-seq
MIRT802624	hsa-miR-1297	CLIP-seq
MIRT802625	hsa-miR-1343	CLIP-seq
MIRT2480150	hsa-miR-141	CLIP-seq
MIRT2176784	hsa-miR-143	CLIP-seq
MIRT2480151	hsa-miR-200a	CLIP-seq
MIRT802630	hsa-miR-26a	CLIP-seq
MIRT802631	hsa-miR-26b	CLIP-seq
MIRT802632	hsa-miR-3074-5p	CLIP-seq
MIRT802633	hsa-miR-30a	CLIP-seq
MIRT802634	hsa-miR-30b	CLIP-seq
MIRT802635	hsa-miR-30c	CLIP-seq
MIRT802636	hsa-miR-30d	CLIP-seq
MIRT802637	hsa-miR-30e	CLIP-seq
MIRT2480152	hsa-miR-3156-5p	CLIP-seq
MIRT2480153	hsa-miR-3618	CLIP-seq
MIRT802638	hsa-miR-3690	CLIP-seq
MIRT802639	hsa-miR-3922-5p	CLIP-seq
MIRT802640	hsa-miR-4252	CLIP-seq
MIRT802641	hsa-miR-4254	CLIP-seq
MIRT2480154	hsa-miR-4263	CLIP-seq
MIRT2176789	hsa-miR-4282	CLIP-seq
MIRT802642	hsa-miR-4289	CLIP-seq
MIRT802646	hsa-miR-4465	CLIP-seq
MIRT802647	hsa-miR-4470	CLIP-seq
MIRT802648	hsa-miR-4495	CLIP-seq
MIRT2176794	hsa-miR-4708-5p	CLIP-seq
MIRT802650	hsa-miR-4716-5p	CLIP-seq
MIRT802652	hsa-miR-4719	CLIP-seq
MIRT2675494	hsa-miR-4731-3p	CLIP-seq
MIRT2176795	hsa-miR-4733-5p	CLIP-seq
MIRT2176796	hsa-miR-4770	CLIP-seq
MIRT2675495	hsa-miR-4789-5p	CLIP-seq
MIRT2675496	hsa-miR-4801	CLIP-seq
MIRT802656	hsa-miR-498	CLIP-seq
MIRT802659	hsa-miR-563	CLIP-seq
MIRT2480155	hsa-miR-576-5p	CLIP-seq
MIRT2480156	hsa-miR-934	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	22055184, 28514442, 29997253, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12077347, 29997253
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	22055184
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	28757607
GO:0005829	Component	Cytosol	IEA
GO:0006260	Process	DNA replication	NAS	29997253
GO:0006281	Process	DNA repair	IEA
GO:0006307	Process	DNA alkylation repair	IDA	22055184
GO:0006307	Process	DNA alkylation repair	NAS	29997253
GO:0006513	Process	Protein monoubiquitination	IDA	34348161
GO:0006974	Process	DNA damage response	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	32579943, 36302773
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022626	Component	Cytosolic ribosome	IDA	36302773
GO:0032790	Process	Ribosome disassembly	IDA	32579943, 36302773
GO:0032790	Process	Ribosome disassembly	NAS	32099016
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	22055184
GO:0071569	Process	Protein ufmylation	IDA	38383785, 38383789
GO:0072344	Process	Rescue of stalled ribosome	IDA	25578875, 38383785, 38383789
GO:0072344	Process	Rescue of stalled ribosome	IDA	32579943, 36302773
GO:0072344	Process	Rescue of stalled ribosome	IMP	32099016
GO:0140708	Process	CAT tailing	IDA	33909987
GO:0180022	Component	RQC-trigger complex	IDA	12077347
GO:0180022	Component	RQC-trigger complex	IEA
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	IDA	25578875, 34348161
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	IMP	32099016
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	NAS	32099016
GO:1990391	Component	DNA repair complex	IPI	29997253

MIM	HGNC	e!Ensembl
614217	18697	ENSG00000112249

Q8N3C0

Protein name

Activating signal cointegrator 1 complex subunit 3 (EC 5.6.2.4) (ASC-1 complex subunit p200) (ASC1p200) (Helicase, ATP binding 1) (Trip4 complex subunit p200)

Protein function

ATPase involved both in DNA repair and rescue of stalled ribosomes (PubMed:22055184, PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). 3'-5' DNA helicase involved in repair of alkylated DNA: promotes DNA unwinding to generate

PDB

6YXQ , 8ALZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	478 → 657	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	699 → 857	Helicase conserved C-terminal domain	Family
PF02889	Sec63	978 → 1286	Sec63 Brl domain	Family
PF00270	DEAD	1328 → 1500	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	1545 → 1694	Helicase conserved C-terminal domain	Family
PF02889	Sec63	1812 → 2176	Sec63 Brl domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12077347}.

Sequence

MALPRLTGALRSFSNVTKQDNYNEEVADLKIKRSKLHEQVLDLGLTWKKIIKFLNEKLEK
SKMQSINEDLKDILHAAKQIVGTDNGREAIESGAAFLFMTFHLKDSVGHKETKAIKQMFG
PFPSSSATAACNATNRIISHFSQDDLTALVQMTEKEHGDRVFFGKNLAFSFDMHDLDHFD
ELPINGETQKTISLDYKKFLNEHLQEACTPELKPVEKTNGSFLWCEVEKYLNSTLKEMTE
VPRVEDLCCTLYDMLASIKSGDELQDELFELLGPEGLELIEKLLQNRITIVDRFLNSSND
HRFQALQDNCKKILGENAKPNYGCQVTIQSEQEKQLMKQYRREEKRIARREKKAGEDLEV
SEGLMCFDPKELRIQREQALLNARSVPILSRQRDADVEKIHYPHVYDSQAEAMKTSAFIA
GAKMILPEGIQRENNKLYEEVRIPYSEPMPLSFEEKPVYIQDLDEIGQLAFKGMKRLNRI
QSIVFETAYNTNENMLICAPTGAGKTNIAMLTVLHEIRQHFQQGVIKKNEFKIVYVAPMK
ALAAEMTDYFSRRLEPLGIIVKELTGDMQLSKSEILRTQMLVTTPEKWDVVTRKSVGDVA
LSQIVRLLILDEVHLLHEDRGPVLESIVARTLRQVESTQSMIRILGLSATLPNYLDVATF
LHVNPYIGLFFFDGRFRPVPLGQTFLGIKCANKMQQLNNMDEVCYENVLKQVKAGHQVMV
FVHARNATVRTAMSLIERAKNCGHIPFFFPTQGHDYVLAEKQVQRSRNKQVRELFPDGFS
IHHAGMLRQDRNLVENLFSNGHIKVLVCTATLAWGVNLPAHAVIIKGTQIYAAKRGSFVD
LGILDVMQIFGRAGRPQFDKFGEGIIITTHDKLSHYLTLLTQRNPIESQFLESLADNLNA
EIALGTVTNVEEAVKWISYTYLYVRMRANPLAYGISHKAYQIDPTLRKHREQLVIEVGRK
LDKAQMIRFEERTGYFSSTDLGRTASHYYIKYNTIETFNELFDAHKTEGDIFAIVSKAEE
FDQIKVREEEIEELDTLLSNFCELSTPGGVENSYGKINILLQTYISRGEMDSFSLISDSA
YVAQNAARIVRALFEIALRKRWPTMTYRLLNLSKVIDKRLWGWASPLRQFSILPPHILTR
LEEKKLTVDKLKDMRKDEIGHILHHVNIGLKVKQCVHQIPSVMMEASIQPITRTVLRVTL
SIYADFTWNDQVHGTVGEPWWIWVEDPTNDHIYHSEYFLALKKQVISKEAQLLVFTIPIF
EPLPSQYYIRAVSDRWLGAEAVCIINFQHLILPERHPPHTELLDLQPLPITALGCKAYEA
LYNFSHFNPVQTQIFHTLYHTDCNVLLGAPTGSGKTVAAELAIFRVFNKYPTSKAVYIAP
LKALVRERMDDWKVRIEEKLGKKVIELTGDVTPDMKSIAKADLIVTTPEKWDGVSRSWQN
RNYVQQVTILIIDEIHLLGEERGPVLEVIVSRTNFISSHTEKPVRIVGLSTALANARDLA
DWLNIKQMGLFNFRPSVRPVPLEVHIQGFPGQHYCPRMASMNKPAFQAIRSHSPAKPVLI
FVSSRRQTRLTALELIAFLATEEDPKQWLNMDEREMENIIATVRDSNLKLTLAFGIGMHH
AGLHERDRKTVEELFVNCKVQVLIATSTLAWGVNFPAHLVIIKGTEYYDGKTRRYVDFPI
TDVLQMMGRAGRPQFDDQGKAVILVHDIKKDFYKKFLYEPFPVESSLLGVLSDHLNAEIA
GGTITSKQDALDYITWTYFFRRLIMNPSYYNLGDVSHDSVNKFLSHLIEKSLIELELSYC
IEIGEDNRSIEPLTYGRIASYYYLKHQTVKMFKDRLKPECSTEELLSILSDAEEYTDLPV
RHNEDHMNSELAKCLPIESNPHSFDSPHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQA
LRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFKKWKP
IMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGI
SVKGSWDDLVEGHNELSVSTLTADKRDDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPES
CAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYIYTLY
FMSDCYLGLDQQYDIYLNVTQASLSAQVNTKVSDSLTDLALK

Sequence length

2202

Interactions

View interactions

	Reactome
			ALKBH3 mediated reversal of alkylation damage

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ASCC3-related disorder	Likely pathogenic	rs2482809051	RCV003333601
Gastric cancer	Likely pathogenic	rs1432792609	RCV005908948
Intellectual developmental disorder, autosomal recessive 81	Pathogenic; Likely pathogenic	rs1414695401, rs148742449, rs1051651433, rs372947820, rs1045124261, rs749948570, rs746032367, rs2482794327, rs1781674062, rs2482381132, rs1432792609	RCV003494010 RCV003494011 RCV003494012 RCV003494013 RCV003494014 RCV003494015 RCV003494016 RCV003494017 RCV003883220 RCV004526502 RCV003493817
See cases	Likely pathogenic	rs1432792609	RCV001197895

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ASCC3-associated disorder	Conflicting classifications of pathogenicity	rs1332043274	RCV003494050
Congenital myopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs746402874, rs938886650	RCV003447797 RCV003447798
Familial cancer of breast	Uncertain significance	rs145890655	RCV005901164
Lung cancer	Uncertain significance	rs145890655	RCV005901165
Uterine corpus endometrial carcinoma	Uncertain significance	rs145890655	RCV005901166

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Neoplasms	Associate	33139697

ASCC3 (activating signal cointegrator 1 complex subunit 3)