ARID4A (AT-rich interaction domain 4A)

Gene

• Entrez ID: 5926
• Gene name: AT-rich interaction domain 4A
• Gene symbol: ARID4A
• Synonyms (NCBI Gene): RBBP-1, RBBP1, RBP-1, RBP1
• Chromosome: 14
• Chromosome location: 14q23.1
• Summary: The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs62621193	G>A,C	Conflicting-interpretations-of-pathogenicity	Splice donor variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1594966387	G>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018511	hsa-miR-335-5p	Microarray	18185580
MIRT030996	hsa-miR-21-5p	Microarray	18591254
MIRT624668	hsa-miR-548ac	HITS-CLIP	23824327
MIRT624667	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT624666	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT624665	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT624664	hsa-miR-548z	HITS-CLIP	23824327
MIRT624663	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT660532	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT624668	hsa-miR-548ac	HITS-CLIP	23824327
MIRT624667	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT624666	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT624665	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT624664	hsa-miR-548z	HITS-CLIP	23824327
MIRT624663	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624668	hsa-miR-548ac	HITS-CLIP	23824327
MIRT624667	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT624666	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT624665	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT624664	hsa-miR-548z	HITS-CLIP	23824327
MIRT624663	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT660532	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT624668	hsa-miR-548ac	HITS-CLIP	23824327
MIRT624667	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT624666	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT624665	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT624664	hsa-miR-548z	HITS-CLIP	23824327
MIRT624663	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT796674	hsa-miR-103a	CLIP-seq
MIRT796675	hsa-miR-106a	CLIP-seq
MIRT796676	hsa-miR-106b	CLIP-seq
MIRT796677	hsa-miR-107	CLIP-seq
MIRT796678	hsa-miR-1207-5p	CLIP-seq
MIRT796679	hsa-miR-1254	CLIP-seq
MIRT796680	hsa-miR-1273g	CLIP-seq
MIRT796681	hsa-miR-153	CLIP-seq
MIRT796682	hsa-miR-17	CLIP-seq
MIRT796683	hsa-miR-183	CLIP-seq
MIRT796684	hsa-miR-2054	CLIP-seq
MIRT796685	hsa-miR-20a	CLIP-seq
MIRT796686	hsa-miR-20b	CLIP-seq
MIRT796687	hsa-miR-2110	CLIP-seq
MIRT796688	hsa-miR-2113	CLIP-seq
MIRT796689	hsa-miR-218	CLIP-seq
MIRT796690	hsa-miR-27a	CLIP-seq
MIRT796691	hsa-miR-27b	CLIP-seq
MIRT796692	hsa-miR-30a	CLIP-seq
MIRT796693	hsa-miR-30b	CLIP-seq
MIRT796694	hsa-miR-30c	CLIP-seq
MIRT796695	hsa-miR-30d	CLIP-seq
MIRT796696	hsa-miR-30e	CLIP-seq
MIRT796697	hsa-miR-3116	CLIP-seq
MIRT796698	hsa-miR-3127-5p	CLIP-seq
MIRT796699	hsa-miR-3148	CLIP-seq
MIRT796700	hsa-miR-3150a-3p	CLIP-seq
MIRT796701	hsa-miR-3160-5p	CLIP-seq
MIRT796702	hsa-miR-323b-5p	CLIP-seq
MIRT796703	hsa-miR-330-3p	CLIP-seq
MIRT796704	hsa-miR-3606	CLIP-seq
MIRT796705	hsa-miR-3607-3p	CLIP-seq
MIRT796706	hsa-miR-3613-3p	CLIP-seq
MIRT796707	hsa-miR-3671	CLIP-seq
MIRT796708	hsa-miR-3680	CLIP-seq
MIRT796709	hsa-miR-3682-5p	CLIP-seq
MIRT796710	hsa-miR-371b-5p	CLIP-seq
MIRT796711	hsa-miR-376c	CLIP-seq
MIRT796712	hsa-miR-3908	CLIP-seq
MIRT796713	hsa-miR-3942-5p	CLIP-seq
MIRT796714	hsa-miR-3944-5p	CLIP-seq
MIRT796715	hsa-miR-425	CLIP-seq
MIRT796716	hsa-miR-4255	CLIP-seq
MIRT796717	hsa-miR-4260	CLIP-seq
MIRT796718	hsa-miR-4422	CLIP-seq
MIRT796719	hsa-miR-4436b-5p	CLIP-seq
MIRT796720	hsa-miR-4450	CLIP-seq
MIRT796721	hsa-miR-4461	CLIP-seq
MIRT796722	hsa-miR-4477a	CLIP-seq
MIRT796723	hsa-miR-448	CLIP-seq
MIRT796724	hsa-miR-450b-5p	CLIP-seq
MIRT796725	hsa-miR-4640-3p	CLIP-seq
MIRT796726	hsa-miR-4652-3p	CLIP-seq
MIRT796727	hsa-miR-4658	CLIP-seq
MIRT796728	hsa-miR-4666-3p	CLIP-seq
MIRT796729	hsa-miR-4668-3p	CLIP-seq
MIRT796730	hsa-miR-4703-5p	CLIP-seq
MIRT796731	hsa-miR-4720-3p	CLIP-seq
MIRT796732	hsa-miR-4736	CLIP-seq
MIRT796733	hsa-miR-4758-5p	CLIP-seq
MIRT796734	hsa-miR-4760-3p	CLIP-seq
MIRT796735	hsa-miR-4763-3p	CLIP-seq
MIRT796736	hsa-miR-4766-3p	CLIP-seq
MIRT796737	hsa-miR-4775	CLIP-seq
MIRT796738	hsa-miR-4798-3p	CLIP-seq
MIRT796739	hsa-miR-4804-3p	CLIP-seq
MIRT796740	hsa-miR-513a-5p	CLIP-seq
MIRT796741	hsa-miR-513b	CLIP-seq
MIRT796742	hsa-miR-518a-5p	CLIP-seq
MIRT796743	hsa-miR-519a	CLIP-seq
MIRT796744	hsa-miR-519b-3p	CLIP-seq
MIRT796745	hsa-miR-519c-3p	CLIP-seq
MIRT796746	hsa-miR-519d	CLIP-seq
MIRT796747	hsa-miR-520f	CLIP-seq
MIRT796748	hsa-miR-527	CLIP-seq
MIRT796749	hsa-miR-548c-3p	CLIP-seq
MIRT796750	hsa-miR-548t	CLIP-seq
MIRT796751	hsa-miR-570	CLIP-seq
MIRT796752	hsa-miR-590-3p	CLIP-seq
MIRT796753	hsa-miR-607	CLIP-seq
MIRT796754	hsa-miR-875-3p	CLIP-seq
MIRT796755	hsa-miR-921	CLIP-seq
MIRT796756	hsa-miR-93	CLIP-seq
MIRT796675	hsa-miR-106a	CLIP-seq
MIRT796676	hsa-miR-106b	CLIP-seq
MIRT796757	hsa-miR-1284	CLIP-seq
MIRT796758	hsa-miR-139-5p	CLIP-seq
MIRT796682	hsa-miR-17	CLIP-seq
MIRT796685	hsa-miR-20a	CLIP-seq
MIRT796686	hsa-miR-20b	CLIP-seq
MIRT796687	hsa-miR-2110	CLIP-seq
MIRT796759	hsa-miR-3120-3p	CLIP-seq
MIRT796700	hsa-miR-3150a-3p	CLIP-seq
MIRT796760	hsa-miR-3168	CLIP-seq
MIRT796761	hsa-miR-3173-3p	CLIP-seq
MIRT796705	hsa-miR-3607-3p	CLIP-seq
MIRT796720	hsa-miR-4450	CLIP-seq
MIRT796762	hsa-miR-452	CLIP-seq
MIRT796763	hsa-miR-4641	CLIP-seq
MIRT796764	hsa-miR-4676-3p	CLIP-seq
MIRT796765	hsa-miR-4729	CLIP-seq
MIRT796766	hsa-miR-486-5p	CLIP-seq
MIRT796743	hsa-miR-519a	CLIP-seq
MIRT796744	hsa-miR-519b-3p	CLIP-seq
MIRT796745	hsa-miR-519c-3p	CLIP-seq
MIRT796746	hsa-miR-519d	CLIP-seq
MIRT796767	hsa-miR-545	CLIP-seq
MIRT796750	hsa-miR-548t	CLIP-seq
MIRT796768	hsa-miR-640	CLIP-seq
MIRT796769	hsa-miR-7	CLIP-seq
MIRT796770	hsa-miR-885-3p	CLIP-seq
MIRT796756	hsa-miR-93	CLIP-seq
MIRT796771	hsa-miR-944	CLIP-seq
MIRT796674	hsa-miR-103a	CLIP-seq
MIRT796677	hsa-miR-107	CLIP-seq
MIRT1935282	hsa-miR-1207-3p	CLIP-seq
MIRT796714	hsa-miR-3944-5p	CLIP-seq
MIRT1935283	hsa-miR-555	CLIP-seq
MIRT1935284	hsa-miR-1288	CLIP-seq
MIRT1935285	hsa-miR-194	CLIP-seq
MIRT1935286	hsa-miR-4799-5p	CLIP-seq
MIRT1935287	hsa-miR-495	CLIP-seq
MIRT796679	hsa-miR-1254	CLIP-seq
MIRT2175252	hsa-miR-1271	CLIP-seq
MIRT796680	hsa-miR-1273g	CLIP-seq
MIRT2175253	hsa-miR-1285	CLIP-seq
MIRT2175254	hsa-miR-1343	CLIP-seq
MIRT2175255	hsa-miR-154	CLIP-seq
MIRT2175256	hsa-miR-182	CLIP-seq
MIRT796684	hsa-miR-2054	CLIP-seq
MIRT796687	hsa-miR-2110	CLIP-seq
MIRT2175257	hsa-miR-2278	CLIP-seq
MIRT796690	hsa-miR-27a	CLIP-seq
MIRT796691	hsa-miR-27b	CLIP-seq
MIRT796692	hsa-miR-30a	CLIP-seq
MIRT796693	hsa-miR-30b	CLIP-seq
MIRT796694	hsa-miR-30c	CLIP-seq
MIRT796695	hsa-miR-30d	CLIP-seq
MIRT796696	hsa-miR-30e	CLIP-seq
MIRT796697	hsa-miR-3116	CLIP-seq
MIRT2175258	hsa-miR-3121-3p	CLIP-seq
MIRT796698	hsa-miR-3127-5p	CLIP-seq
MIRT796699	hsa-miR-3148	CLIP-seq
MIRT796700	hsa-miR-3150a-3p	CLIP-seq
MIRT796701	hsa-miR-3160-5p	CLIP-seq
MIRT796760	hsa-miR-3168	CLIP-seq
MIRT2175259	hsa-miR-3187-5p	CLIP-seq
MIRT796702	hsa-miR-323b-5p	CLIP-seq
MIRT796703	hsa-miR-330-3p	CLIP-seq
MIRT2175260	hsa-miR-34a	CLIP-seq
MIRT2175261	hsa-miR-34c-5p	CLIP-seq
MIRT796705	hsa-miR-3607-3p	CLIP-seq
MIRT796708	hsa-miR-3680	CLIP-seq
MIRT796711	hsa-miR-376c	CLIP-seq
MIRT796717	hsa-miR-4260	CLIP-seq
MIRT2175262	hsa-miR-4277	CLIP-seq
MIRT796718	hsa-miR-4422	CLIP-seq
MIRT796719	hsa-miR-4436b-5p	CLIP-seq
MIRT796720	hsa-miR-4450	CLIP-seq
MIRT2175263	hsa-miR-449a	CLIP-seq
MIRT2175264	hsa-miR-449b	CLIP-seq
MIRT796726	hsa-miR-4652-3p	CLIP-seq
MIRT796727	hsa-miR-4658	CLIP-seq
MIRT2175265	hsa-miR-4662a-3p	CLIP-seq
MIRT796733	hsa-miR-4758-5p	CLIP-seq
MIRT796734	hsa-miR-4760-3p	CLIP-seq
MIRT2175266	hsa-miR-4795-3p	CLIP-seq
MIRT796738	hsa-miR-4798-3p	CLIP-seq
MIRT1935286	hsa-miR-4799-5p	CLIP-seq
MIRT796740	hsa-miR-513a-5p	CLIP-seq
MIRT2175267	hsa-miR-518d-5p	CLIP-seq
MIRT2175268	hsa-miR-519b-5p	CLIP-seq
MIRT2175269	hsa-miR-519c-5p	CLIP-seq
MIRT2175270	hsa-miR-520c-5p	CLIP-seq
MIRT796747	hsa-miR-520f	CLIP-seq
MIRT2175271	hsa-miR-526a	CLIP-seq
MIRT796767	hsa-miR-545	CLIP-seq
MIRT2175272	hsa-miR-548l	CLIP-seq
MIRT2175273	hsa-miR-548n	CLIP-seq
MIRT2175274	hsa-miR-612	CLIP-seq
MIRT796754	hsa-miR-875-3p	CLIP-seq
MIRT796770	hsa-miR-885-3p	CLIP-seq
MIRT2175275	hsa-miR-96	CLIP-seq
MIRT2478571	hsa-miR-1205	CLIP-seq
MIRT796678	hsa-miR-1207-5p	CLIP-seq
MIRT2478572	hsa-miR-1286	CLIP-seq
MIRT2478573	hsa-miR-129-5p	CLIP-seq
MIRT796681	hsa-miR-153	CLIP-seq
MIRT796683	hsa-miR-183	CLIP-seq
MIRT2478574	hsa-miR-204	CLIP-seq
MIRT2478575	hsa-miR-21	CLIP-seq
MIRT2478576	hsa-miR-211	CLIP-seq
MIRT796688	hsa-miR-2113	CLIP-seq
MIRT796689	hsa-miR-218	CLIP-seq
MIRT796692	hsa-miR-30a	CLIP-seq
MIRT796693	hsa-miR-30b	CLIP-seq
MIRT796694	hsa-miR-30c	CLIP-seq
MIRT796695	hsa-miR-30d	CLIP-seq
MIRT796696	hsa-miR-30e	CLIP-seq
MIRT2478577	hsa-miR-3163	CLIP-seq
MIRT2478578	hsa-miR-3190	CLIP-seq
MIRT2478579	hsa-miR-337-3p	CLIP-seq
MIRT796705	hsa-miR-3607-3p	CLIP-seq
MIRT796706	hsa-miR-3613-3p	CLIP-seq
MIRT796710	hsa-miR-371b-5p	CLIP-seq
MIRT2478580	hsa-miR-4287	CLIP-seq
MIRT796719	hsa-miR-4436b-5p	CLIP-seq
MIRT796722	hsa-miR-4477a	CLIP-seq
MIRT796723	hsa-miR-448	CLIP-seq
MIRT796724	hsa-miR-450b-5p	CLIP-seq
MIRT796729	hsa-miR-4668-3p	CLIP-seq
MIRT2478581	hsa-miR-4685-3p	CLIP-seq
MIRT2478582	hsa-miR-4708-3p	CLIP-seq
MIRT796731	hsa-miR-4720-3p	CLIP-seq
MIRT2478583	hsa-miR-4722-5p	CLIP-seq
MIRT796732	hsa-miR-4736	CLIP-seq
MIRT2478584	hsa-miR-4742-5p	CLIP-seq
MIRT796735	hsa-miR-4763-3p	CLIP-seq
MIRT796737	hsa-miR-4775	CLIP-seq
MIRT2478585	hsa-miR-4796-3p	CLIP-seq
MIRT796739	hsa-miR-4804-3p	CLIP-seq
MIRT796766	hsa-miR-486-5p	CLIP-seq
MIRT2478586	hsa-miR-507	CLIP-seq
MIRT796741	hsa-miR-513b	CLIP-seq
MIRT796749	hsa-miR-548c-3p	CLIP-seq
MIRT796750	hsa-miR-548t	CLIP-seq
MIRT2478587	hsa-miR-557	CLIP-seq
MIRT796751	hsa-miR-570	CLIP-seq
MIRT796752	hsa-miR-590-3p	CLIP-seq
MIRT2478588	hsa-miR-590-5p	CLIP-seq
MIRT796769	hsa-miR-7	CLIP-seq
MIRT2478571	hsa-miR-1205	CLIP-seq
MIRT796678	hsa-miR-1207-5p	CLIP-seq
MIRT2478572	hsa-miR-1286	CLIP-seq
MIRT2478573	hsa-miR-129-5p	CLIP-seq
MIRT796683	hsa-miR-183	CLIP-seq
MIRT2478574	hsa-miR-204	CLIP-seq
MIRT2478575	hsa-miR-21	CLIP-seq
MIRT2478576	hsa-miR-211	CLIP-seq
MIRT796705	hsa-miR-3607-3p	CLIP-seq
MIRT2478580	hsa-miR-4287	CLIP-seq
MIRT796722	hsa-miR-4477a	CLIP-seq
MIRT796724	hsa-miR-450b-5p	CLIP-seq
MIRT2478581	hsa-miR-4685-3p	CLIP-seq
MIRT2478582	hsa-miR-4708-3p	CLIP-seq
MIRT796731	hsa-miR-4720-3p	CLIP-seq
MIRT2478583	hsa-miR-4722-5p	CLIP-seq
MIRT796732	hsa-miR-4736	CLIP-seq
MIRT2478584	hsa-miR-4742-5p	CLIP-seq
MIRT796735	hsa-miR-4763-3p	CLIP-seq
MIRT796739	hsa-miR-4804-3p	CLIP-seq
MIRT796766	hsa-miR-486-5p	CLIP-seq
MIRT2478586	hsa-miR-507	CLIP-seq
MIRT2478587	hsa-miR-557	CLIP-seq
MIRT2478588	hsa-miR-590-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	9651585, 22865885
GO:0000976	Function	Transcription cis-regulatory region binding	IBA
GO:0003677	Function	DNA binding	IDA	15640446
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11283269
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	28554894
GO:0005634	Component	Nucleus	TAS	8414517
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0017053	Component	Transcription repressor complex	IDA	11283269
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	NAS	22984288
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	NAS	22984288
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12724404
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0070822	Component	Sin3-type complex	NAS	28554894
GO:0071514	Process	Genomic imprinting	IEA
GO:0097368	Process	Establishment of Sertoli cell barrier	IEA
GO:1902455	Process	Negative regulation of stem cell population maintenance	NAS	28554894
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	28554894

Other IDs

• MIM: 180201
• HGNC: 9885
• e!Ensembl: ENSG00000032219

Protein

• UniProt ID: P29374
• Protein name: AT-rich interactive domain-containing protein 4A (ARID domain-containing protein 4A) (Retinoblastoma-binding protein 1) (RBBP-1)
• Protein function: DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Ha
• PDB: 2LCC, 2MAM, 2YRV, 6BPH, 6L87, 7SMC, 7V8N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08169	RBB1NT	170 → 262	RBB1NT (NUC162) domain	Domain
  PF01388	ARID	311 → 397	ARID/BRIGHT DNA binding domain	Domain
  PF11717	Tudor-knot	574 → 630	RNA binding activity-knot of a chromodomain	Family

• Sequence:

  MKAADEPAYLTVGTDVSAKYRGAFCEAKIKTVKRLVKVKVLLKQDNTTQLVQDDQVKGPL
  RVGAIVETRTSDGSFQEAIISKLTDASWYTVVFDDGDERTLRRTSLCLKGERHFAESETL
  DQLPLTNPEHFGTPVIAKKTNRGRRSSLPVTEDEKEEESSEEEDEDKRRLNDELLGKVVS
  VVSATERTEWYPALVISPSCNDDITVKKDQCLVRSFIDSKFYSIARKDIKEVDILNLPES
  ELSTKPGLQKASIFLKTRVVPDNWKMDISEILESSSSDDEDGPAEENDEEKEKEAKKTEE
  EVPEEELDPEERDNFLQQLYKFMEDRGTPINKPPVLGYKDLNLFKLFRLVYHQGGCDNID
  SGAVWKQIYMDLGIPILNSAASYNVKTAYRKYLYGFEEYCRSANIQFRTVHHHEPKVKEE
  KKDLEESMEEALKLDQEMPLTEVKSEPEENIDSNSESEREEIELKSPRGRRRIARDVNSI
  KKEIEEEKTEDKLKDNDTENKDVDDDYETAEKKENELLLGRKNTPKQKEKKIKKQEDSDK
  DSDEEEEKSQEREETESKCDSEGEEDEEDMEPCLTGTKVKVKYGRGKTQKIYEASIKSTE
  IDDGEVLYLVHYYGWNVRYDEWVKADRIIWPLDKGGPKKKQKKKAKNKEDSEKDEKRDEE
  RQKSKRGRPPLKSTLSSNMPYGLSKTANSEGKSDSCSSDSETEDALEKNLINEELSLKDE
  LEKNENLNDDKLDEENPKISAHILKENDRTQMQPLETLKLEVGENEQIVQIFGNKMEKTE
  EVKKEAEKSPKGKGRRSKTKDLSLEIIKISSFGQNEAGSEPHIEAHSLELSSLDNKNFSS
  ATEDEIDQCVKEKKLKRKILGQSSPEKKIRIENGMEMTNTVSQERTSDCIGSEGMKNLNF
  EQHFERENEGMPSLIAESNQCIQQLTSERFDSPAEETVNIPLKEDEDAMPLIGPETLVCH
  EVDLDDLDEKDKTSIEDVAVESSESNSLVSIPPALPPVVQHNFSVASPLTLSQDESRSVK
  SESDITIEVDSIAEESQEGLCERESANGFETNVASGTCSIIVQERESREKGQKRPSDGNS
  GLMAKKQKRTPKRTSAAAKNEKNGTGQSSDSEDLPVLDNSSKCTPVKHLNVSKPQKLARS
  PARISPHIKDGEKDKHREKHPNSSPRTYKWSFQLNELDNMNSTERISFLQEKLQEIRKYY
  MSLKSEVATIDRRRKRLKKKDREVSHAGASMSSASSDTGMSPSSSSPPQNVLAVECR

• Sequence length: 1257

Pathways

Reactome:

HDACs deacetylate histones

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
Multiple myeloma	Likely pathogenic	rs1594966387	RCV000984133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	18211900		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10496363, 33592583	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24382590		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	22247551		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22247551	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18211900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29797600		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18211900		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22247551, 24382590		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29797600		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	28486502	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	31420334	Associate	★☆☆☆☆ Found in Text Mining only