CHD8 (chromodomain helicase DNA binding protein 8)

Gene

• Entrez ID: 57680
• Gene name: Chromodomain helicase DNA binding protein 8
• Gene symbol: CHD8
• Synonyms: AUTS18, HELSNF1, IDDAM
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61752839	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs111250264	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs181227407	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377595194	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397514551	G>A	Risk-factor	Coding sequence variant, stop gained
rs397514552	G>A	Risk-factor	Coding sequence variant, stop gained
rs556977377	G>A,C	Pathogenic	Missense variant, intron variant, stop gained, coding sequence variant
rs757502536	TTC>-,TTCTTC	Conflicting-interpretations-of-pathogenicity	Inframe deletion, inframe insertion, coding sequence variant
rs766317271	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs776631057	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs794727436	C>T	Likely-pathogenic	Splice donor variant
rs797044853	ACAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224857	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039692	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039725	CTATGAAGA>-	Pathogenic	Intron variant, splice acceptor variant
rs886041884	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886041968	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043086	->A	Pathogenic	Coding sequence variant, frameshift variant
rs991738444	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1057518651	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523712	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524339	T>C	Pathogenic	Splice acceptor variant
rs1057524677	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1064795655	C>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1085307794	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1131691548	G>A	Pathogenic	Coding sequence variant, stop gained
rs1135401763	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1157888951	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1331026006	G>A,C	Risk-factor	Stop gained, missense variant, coding sequence variant, intron variant
rs1454466097	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555314174	A>T	Likely-pathogenic	Splice donor variant
rs1555314186	CTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555314317	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555314378	->T	Pathogenic	Stop gained, coding sequence variant
rs1555314582	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555314736	C>T	Likely-pathogenic	Splice donor variant
rs1555314788	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555314895	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555315221	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555315488	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555315679	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555316323	A>C	Pathogenic	Stop gained, coding sequence variant
rs1555318001	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555318633	CTGA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555318675	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555318734	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1566427770	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566446604	GAGAGCTTGGCAGTCCA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1594331875	AAGTACTTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594340060	C>-	Likely-pathogenic	Splice donor variant
rs1594344154	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594344233	T>C	Risk-factor	Splice acceptor variant
rs1594344768	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594349020	ACG>TACT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594351052	GG>A	Pathogenic	Frameshift variant, coding sequence variant
rs1594352987	C>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030570	hsa-miR-24-3p	Microarray	19748357
MIRT039940	hsa-miR-615-3p	CLASH	23622248
MIRT038139	hsa-miR-423-5p	CLASH	23622248
MIRT037268	hsa-miR-877-5p	CLASH	23622248
MIRT036108	hsa-miR-1296-5p	CLASH	23622248
MIRT442791	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT442790	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT442789	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT442787	hsa-miR-3606-3p	PAR-CLIP	22100165
MIRT442788	hsa-miR-513a-3p	PAR-CLIP	22100165
MIRT442786	hsa-miR-513c-3p	PAR-CLIP	22100165
MIRT442784	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT442785	hsa-miR-4480	PAR-CLIP	22100165
MIRT442783	hsa-miR-4477a	PAR-CLIP	22100165
MIRT440949	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440949	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT442791	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT442790	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT442789	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT442787	hsa-miR-3606-3p	PAR-CLIP	22100165
MIRT442788	hsa-miR-513a-3p	PAR-CLIP	22100165
MIRT442786	hsa-miR-513c-3p	PAR-CLIP	22100165
MIRT442784	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT442785	hsa-miR-4480	PAR-CLIP	22100165
MIRT442783	hsa-miR-4477a	PAR-CLIP	22100165
MIRT889413	hsa-miR-1289	CLIP-seq
MIRT889414	hsa-miR-2355-5p	CLIP-seq
MIRT889415	hsa-miR-3198	CLIP-seq
MIRT889416	hsa-miR-3690	CLIP-seq
MIRT889417	hsa-miR-378	CLIP-seq
MIRT889418	hsa-miR-378b	CLIP-seq
MIRT889419	hsa-miR-378c	CLIP-seq
MIRT889420	hsa-miR-378d	CLIP-seq
MIRT889421	hsa-miR-378e	CLIP-seq
MIRT889422	hsa-miR-378f	CLIP-seq
MIRT889423	hsa-miR-378h	CLIP-seq
MIRT889424	hsa-miR-378i	CLIP-seq
MIRT889425	hsa-miR-422a	CLIP-seq
MIRT889426	hsa-miR-4254	CLIP-seq
MIRT889427	hsa-miR-4286	CLIP-seq
MIRT889428	hsa-miR-4294	CLIP-seq
MIRT889429	hsa-miR-4309	CLIP-seq
MIRT889430	hsa-miR-617	CLIP-seq
MIRT1963581	hsa-miR-1273g	CLIP-seq
MIRT889413	hsa-miR-1289	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963583	hsa-miR-1321	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT889414	hsa-miR-2355-5p	CLIP-seq
MIRT1963586	hsa-miR-3120-3p	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963589	hsa-miR-3162-5p	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT889415	hsa-miR-3198	CLIP-seq
MIRT1963591	hsa-miR-3646	CLIP-seq
MIRT1963592	hsa-miR-3647-3p	CLIP-seq
MIRT1963593	hsa-miR-3689d	CLIP-seq
MIRT889416	hsa-miR-3690	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT889417	hsa-miR-378	CLIP-seq
MIRT889418	hsa-miR-378b	CLIP-seq
MIRT889419	hsa-miR-378c	CLIP-seq
MIRT889420	hsa-miR-378d	CLIP-seq
MIRT889421	hsa-miR-378e	CLIP-seq
MIRT889422	hsa-miR-378f	CLIP-seq
MIRT889423	hsa-miR-378h	CLIP-seq
MIRT889424	hsa-miR-378i	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT889425	hsa-miR-422a	CLIP-seq
MIRT889426	hsa-miR-4254	CLIP-seq
MIRT889427	hsa-miR-4286	CLIP-seq
MIRT889428	hsa-miR-4294	CLIP-seq
MIRT889429	hsa-miR-4309	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963598	hsa-miR-4632	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963603	hsa-miR-4728-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963605	hsa-miR-4739	CLIP-seq
MIRT1963606	hsa-miR-4756-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT1963608	hsa-miR-4802-5p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT1963610	hsa-miR-5096	CLIP-seq
MIRT1963611	hsa-miR-569	CLIP-seq
MIRT1963612	hsa-miR-587	CLIP-seq
MIRT889430	hsa-miR-617	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT889414	hsa-miR-2355-5p	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq
MIRT2199975	hsa-miR-3713	CLIP-seq
MIRT2502696	hsa-miR-1226	CLIP-seq
MIRT1963581	hsa-miR-1273g	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963583	hsa-miR-1321	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963589	hsa-miR-3162-5p	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT2502697	hsa-miR-3663-3p	CLIP-seq
MIRT1963593	hsa-miR-3689d	CLIP-seq
MIRT2199975	hsa-miR-3713	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT2502698	hsa-miR-4267	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT2502699	hsa-miR-4725-5p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963603	hsa-miR-4728-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963605	hsa-miR-4739	CLIP-seq
MIRT1963606	hsa-miR-4756-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT2502700	hsa-miR-4792	CLIP-seq
MIRT1963608	hsa-miR-4802-5p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT2502701	hsa-miR-504	CLIP-seq
MIRT1963611	hsa-miR-569	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT2502702	hsa-miR-766	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq
MIRT2502696	hsa-miR-1226	CLIP-seq
MIRT1963581	hsa-miR-1273g	CLIP-seq
MIRT1963582	hsa-miR-1296	CLIP-seq
MIRT1963583	hsa-miR-1321	CLIP-seq
MIRT1963584	hsa-miR-221	CLIP-seq
MIRT1963585	hsa-miR-222	CLIP-seq
MIRT1963587	hsa-miR-3155	CLIP-seq
MIRT1963588	hsa-miR-3155b	CLIP-seq
MIRT1963589	hsa-miR-3162-5p	CLIP-seq
MIRT1963590	hsa-miR-3194-3p	CLIP-seq
MIRT2502697	hsa-miR-3663-3p	CLIP-seq
MIRT1963593	hsa-miR-3689d	CLIP-seq
MIRT2199975	hsa-miR-3713	CLIP-seq
MIRT1963594	hsa-miR-376c	CLIP-seq
MIRT1963595	hsa-miR-3975	CLIP-seq
MIRT2502698	hsa-miR-4267	CLIP-seq
MIRT1963596	hsa-miR-4438	CLIP-seq
MIRT1963597	hsa-miR-4512	CLIP-seq
MIRT1963599	hsa-miR-4640-5p	CLIP-seq
MIRT1963600	hsa-miR-4665-3p	CLIP-seq
MIRT2502699	hsa-miR-4725-5p	CLIP-seq
MIRT1963601	hsa-miR-4726-5p	CLIP-seq
MIRT1963602	hsa-miR-4727-5p	CLIP-seq
MIRT1963603	hsa-miR-4728-5p	CLIP-seq
MIRT1963604	hsa-miR-4738-5p	CLIP-seq
MIRT1963605	hsa-miR-4739	CLIP-seq
MIRT1963606	hsa-miR-4756-5p	CLIP-seq
MIRT1963607	hsa-miR-4769-3p	CLIP-seq
MIRT2502700	hsa-miR-4792	CLIP-seq
MIRT1963608	hsa-miR-4802-5p	CLIP-seq
MIRT1963609	hsa-miR-484	CLIP-seq
MIRT2502701	hsa-miR-504	CLIP-seq
MIRT1963611	hsa-miR-569	CLIP-seq
MIRT1963613	hsa-miR-760	CLIP-seq
MIRT2502702	hsa-miR-766	CLIP-seq
MIRT1963614	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	25294932
GO:0001701	Process	In utero embryonic development	IEA
GO:0002039	Function	P53 binding	ISS
GO:0003677	Function	DNA binding	IMP	18378692
GO:0003678	Function	DNA helicase activity	IMP	18378692
GO:0003682	Function	Chromatin binding	IDA	22083958
GO:0005515	Function	Protein binding	IPI	15960975, 17938208, 18378692, 20085832, 20453063, 26816381, 26949739
GO:0005524	Function	ATP binding	IDA	18378692
GO:0005634	Component	Nucleus	IDA	18378692, 20453063
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0007420	Process	Brain development	IMP	24998929
GO:0008013	Function	Beta-catenin binding	IDA	18378692, 22083958
GO:0008094	Function	DNA-dependent ATPase activity	IDA	18378692
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0032508	Process	DNA duplex unwinding	IEA
GO:0032991	Component	Protein-containing complex	IDA	18378692
GO:0035064	Function	Methylated histone binding	IDA	17938208
GO:0035176	Process	Social behavior	IEA
GO:0042393	Function	Histone binding	ISS
GO:0043044	Process	ATP-dependent chromatin remodeling	IMP	18378692
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	18378692
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	17938208
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17938208, 25294932
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IMP	17938208
GO:0048565	Process	Digestive tract development	IMP	24998929
GO:0060134	Process	Prepulse inhibition	IEA
GO:0070016	Function	Armadillo repeat domain binding	IEA
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18378692, 22083958
GO:2000270	Process	Negative regulation of fibroblast apoptotic process	IEA

Other IDs

• MIM: 610528
• HGNC: 20153
• e!Ensembl: ENSG00000100888

Protein

• UniProt ID: Q9HCK8
• Protein name: Chromodomain-helicase-DNA-binding protein 8 (CHD-8) (EC 3.6.4.-) (ATP-dependent helicase CHD8) (Helicase with SNF2 domain 1)
• Protein function: ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppres
• PDB: 2CKA, 2DL6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00385	Chromo	642 → 704	Chromo (CHRromatin Organisation MOdifier) domain	Domain
  PF00385	Chromo	724 → 778	Chromo (CHRromatin Organisation MOdifier) domain	Domain
  PF00176	SNF2_N	785 → 1101	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	1133 → 1247	Helicase conserved C-terminal domain	Family
  PF07533	BRK	2309 → 2352	BRK domain	Domain

• Sequence:

  MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGN
  SSASELVPPPEETAPTELSKESTAPAPESITLHDYTTQPASQEQPAQPVLQTSTPTSGLL
  QVSKSQEILSQGNPFMGVSATAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQA
  QGITSTAQPLVAGTANGGKVTFTKVLTGTPLRPGVSIVSGNTVLAAKVPGNQAAVQRIVQ
  PSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQ
  GHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSS
  QPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVK
  VLSASEVAALSSPASSAPHSGGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNI
  PRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGASKTKGKSKLNTITPVV
  GKKRKRNTSSDNSDVEVMPAQSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEE
  EVDVTGPIKPEPILPEPVQEPDGETLPSMQFFVENPSEEDAAIVDKVLSMRIVKKELPSG
  QYTEAEEFFVKYKNYSYLHCEWATISQLEKDKRIHQKLKRFKTKMAQMRHFFHEDEEPFN
  PDYVEVDRILDESHSIDKDNGEPVIYYLVKWCSLPYEDSTWELKEDVDEGKIREFKRIQS
  RHPELKRVNRPQASAWKKLELSHEYKNRNQLREYQLEGVNWLLFNWYNRQNCILADEMGL
  GKTIQSIAFLQEVYNVGIHGPFLVIAPLSTITNWEREFNTWTEMNTIVYHGSLASRQMIQ
  QYEMYCKDSRGRLIPGAYKFDALITTFEMILSDCPELREIEWRCVIIDEAHRLKNRNCKL
  LDSLKHMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSQFPSESEFLKDFGDLKTEEQVQK
  LQAILKPMMLRRLKEDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLSKGAGHTN
  MPNLLNTMMELRKCCNHPYLINGAEEKILTEFREACHIIPHDFHLQAMVRSAGKLVLIDK
  LLPKLKAGGHKVLIFSQMVRCLDILEDYLIQRRYLYERIDGRVRGNLRQAAIDRFSKPDS
  DRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITR
  NSYEREMFDKASLKLGLDKAVLQSMSGRDGNITGIQQFSKKEIEDLLRKGAYAAIMEEDD
  EGSKFCEEDIDQILLRRTTTITIESEGKGSTFAKASFVASENRTDISLDDPNFWQKWAKK
  ADLDMDLLNSKNNLVIDTPRVRKQTRHFSTLKDDDLVEFSDLESEDDERPRSRRHDRHHA
  YGRTDCFRVEKHLLVYGWGRWRDILSHGRFKRRMTERDVETICRAILVYCLLHYRGDENI
  KGFIWDLISPAENGKTKELQNHSGLSIPVPRGRKGKKVKSQSTFDIHKADWIRKYNPDTL
  FQDESYKKHLKHQCNKVLLRVRMLYYLRQEVIGDQAEKVLGGAIASEIDIWFPVVDQLEV
  PTTWWDSEADKSLLIGVFKHGYEKYNTMRADPALCFLEKAGRPDDKAIAAEHRVLDNFSD
  IVEGVDFDKDCEDPEYKPLQGPPKDQDDEGDPLMMMDEEISVIDGDEAQVTQQPGHLFWP
  PGSALTARLRRLVTAYQRSYKREQMKIEAAERGDRRRRRCEAAFKLKEIARREKQQRWTR
  REQTDFYRVVSTFGVEYDPDTMQFHWDRFRTFARLDKKTDESLTKYFHGFVAMCRQVCRL
  PPAAGDEPPDPNLFIEPITEERASRTLYRIELLRRLREQVLCHPLLEDRLALCQPPGPEL
  PKWWEPVRHDGELLRGAARHGVSQTDCNIMQDPDFSFLAARMNYMQNHQAGAPAPSLSRC
  STPLLHQQYTSRTASPLPLRPDAPVEKSPEETATQVPSLESLTLKLEHEVVARSRPTPQD
  YEMRVSPSDTTPLVSRSVPPVKLEDEDDSDSELDLSKLSPSSSSSSSSSSSSSSTDESED
  EKEEKLTDQSRSKLYDEESLLSLTMSQDGFPNEDGEQMTPELLLLQERQRASEWPKDRVL
  INRIDLVCQAVLSGKWPSSRRSQEMVTGGILGPGNHLLDSPSLTPGEYGDSPVPTPRSSS
  AASMAEEEASAVSTAAAQFTKLRRGMDEKEFTVQIKDEEGLKLTFQKHKLMANGVMGDGH
  PLFHKKKGNRKKLVELEVECMEEPNHLDVDLETRIPVINKVDGTLLVGEDAPRRAELEMW
  LQGHPEFAVDPRFLAYMEDRRKQKWQRCKKNNKAELNCLGMEPVQTANSRNGKKGHHTET
  VFNRVLPGPIAPESSKKRARRMRPDLSKMMALMQGGSTGSLSLHNTFQHSSSGLQSVSSL
  GHSSATSASLPFMPFVMGGAPSSPHVDSSTMLHHHHHHPHPHHHHHHHPGLRAPGYPSSP
  VTTASGTTLRLPPLQPEEDDDEDEEDDDDLSQGYDSSERDFSLIDDPMMPANSDSSEDAD
  D

• Sequence length: 2581

Pathways

KEGG:

Wnt signaling pathway

Reactome:

Deactivation of the beta-catenin transactivating complex

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	NON RARE IN EUROPE: Autism, Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	22495309, 23160955, 25961944, 24998929, 26789910
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	22083958, 24998929, 26789910, 22495309, 28191889, 27824329, 27602517, 30670789
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	30670789
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557	24998929, 30670789
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	22495306, 28475857, 23160955, 21447119, 22083958, 23835524, 24267886, 24998929, 28600779, 27824329, 18378692, 26789910

Unknown
Disease name	Disease term	dbSNP ID	References
Dysmorphic features	Dysmorphic features		28600779, 23160955, 23835524, 27824329, 22495306, 28475857, 24267886, 21447119, 22083958, 26789910, 18378692, 24998929
Dyssomnia	Dyssomnias
Eczema	Eczema		23160955, 26789910, 24998929, 22495309
Functional gastrointestinal disorders	Functional Gastrointestinal Disorders		24998929
Gastrointestinal diseases	Gastrointestinal Diseases		24998929
Sleep disorders	Sleep Disorders