ASCC3 (activating signal cointegrator 1 complex subunit 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10973
• Gene name: Activating signal cointegrator 1 complex subunit 3
• Gene symbol: ASCC3
• Synonyms (NCBI Gene): ASC1p200, HELIC1, MRT81, RNAH
• 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

miRNA Show/Hide all (242)

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

Gene ontology (GO) 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

Other IDs

• MIM: 614217
• HGNC: 18697
• e!Ensembl: ENSG00000112249

Protein

• UniProt ID: 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
  PF00270	DEAD	1328 → 1500	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	1545 → 1694	Helicase conserved C-terminal domain	Family
  PF00271	Helicase_C	699 → 857	Helicase conserved C-terminal domain	Family
  PF02889	Sec63	978 → 1286	Sec63 Brl 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

Pathways

Reactome Pathway:

ALKBH3 mediated reversal of alkylation damage

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ASCC3-related disorder	Likely pathogenic	rs2482809051	RCV003333601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs1432792609	RCV005908948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (19)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASCC3-associated disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31926635	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	21937992	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	37085903	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30643256, 30718901, 31926635, 33859377, 34924174, 37464041, 37985818, 38177345	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	21937992	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	37787550, 40216741	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29255261, 29942085, 30595370, 30643256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	38637617	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22055184		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	29869821		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

OR11A1 2 shared diseasesIrritable bowel syndrome, Post-traumatic stress disorder 2 shared evidence sourcesGWAS catalog (Irritable bowel syndrome), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Irritable bowel syndrome, Post-traumatic stress disorder — evidence mostly GWAS catalog. PHF2 2 shared diseasesIrritable bowel syndrome, Post-traumatic stress disorder 2 shared evidence sourcesGWAS catalog (Irritable bowel syndrome), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Irritable bowel syndrome, Post-traumatic stress disorder — evidence mostly GWAS catalog. FAM120AOS 2 shared diseasesIrritable bowel syndrome, Post-traumatic stress disorder 2 shared evidence sourcesGWAS catalog (Irritable bowel syndrome), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Irritable bowel syndrome, Post-traumatic stress disorder — evidence mostly GWAS catalog. GRIA1 2 shared diseasesNonsyndromic intellectual disability, Post-traumatic stress disorder 6 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), ClinVar (Intellectual developmental disorder), GWAS catalog (Intellectual developmental disorder), GenCC (Intellectual developmental disorder), HPO (Intellectual developmental disorder), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Nonsyndromic intellectual disability, Post-traumatic stress disorder — evidence mostly GWAS catalog. CASP2 1 shared diseaseNonsyndromic intellectual disability 5 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), ClinVar (Intellectual developmental disorder), GWAS catalog (Intellectual developmental disorder), HPO (Intellectual developmental disorder), CTD (Intellectual developmental disorder) Related via 1 shared disease including Nonsyndromic intellectual disability — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
OR11A1	2	["Irritable bowel syndrome","Post-traumatic stress disorder"]	0	[]	2	["GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Post-traumatic stress disorder)"]
PHF2	2	["Irritable bowel syndrome","Post-traumatic stress disorder"]	0	[]	2	["GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Post-traumatic stress disorder)"]
FAM120AOS	2	["Irritable bowel syndrome","Post-traumatic stress disorder"]	0	[]	2	["GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Post-traumatic stress disorder)"]
GRIA1	2	["Nonsyndromic intellectual disability","Post-traumatic stress disorder"]	0	[]	6	["Disgenet (Nonsyndromic intellectual disability)","ClinVar (Intellectual developmental disorder)","GWAS catalog (Intellectual developmental disorder)","GenCC (Intellectual developmental disorder)","HPO (Intellectual developmental disorder)","GWAS catalog (Post-traumatic stress disorder)"]
CASP2	1	["Nonsyndromic intellectual disability"]	0	[]	5	["Disgenet (Nonsyndromic intellectual disability)","ClinVar (Intellectual developmental disorder)","GWAS catalog (Intellectual developmental disorder)","HPO (Intellectual developmental disorder)","CTD (Intellectual developmental disorder)"]

Diseases Linked via Similar Genes

Schizophrenia Linked via 4 of 5 related genesOR11A1, PHF2, FAM120AOS, GRIA1 Autism Linked via 2 of 5 related genesOR11A1, GRIA1 Neurodevelopmental disorder Linked via 2 of 5 related genesPHF2, GRIA1 Psoriasis Linked via 1 of 5 related genesOR11A1 Upper aerodigestive tract neoplasm Linked via 1 of 5 related genesOR11A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	4	["OR11A1","PHF2","FAM120AOS","GRIA1"]
Autism	2	["OR11A1","GRIA1"]
Neurodevelopmental disorder	2	["PHF2","GRIA1"]
Psoriasis	1	["OR11A1"]
Upper aerodigestive tract neoplasm	1	["OR11A1"]