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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57680
Gene name Gene Name - the full gene name approved by the HGNC.	Chromodomain helicase DNA binding protein 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHD8
Synonyms (NCBI Gene) Gene synonyms aliases	AUTS18, HELSNF1, IDDAM
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

Show/Hide all(66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	25294932
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001964	Process	Startle response	IEA
GO:0002039	Function	P53 binding	IEA
GO:0002039	Function	P53 binding	ISS
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	18378692
GO:0003678	Function	DNA helicase activity	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	22083958
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	15960975, 17938208, 18378692, 20085832, 20453063, 23285124, 26816381, 26949739, 36537238
GO:0005524	Function	ATP binding	IDA	18378692
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18378692, 20453063
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	18378692
GO:0006397	Process	MRNA processing	IMP	36537238
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	24998929
GO:0008013	Function	Beta-catenin binding	IDA	18378692, 22083958
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0032991	Component	Protein-containing complex	IDA	18378692
GO:0035176	Process	Social behavior	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18378692
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17938208
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
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	IBA
GO:0048565	Process	Digestive tract development	IEA
GO:0048565	Process	Digestive tract development	IMP	24998929
GO:0060134	Process	Prepulse inhibition	IEA
GO:0071339	Component	MLL1 complex	IBA
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	22083958
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18378692
GO:0140002	Function	Histone H3K4me3 reader activity	IDA	17938208
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	18378692
GO:2000270	Process	Negative regulation of fibroblast apoptotic process	IEA

MIM	HGNC	e!Ensembl
610528	20153	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

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Deactivation of the beta-catenin transactivating complex

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
autism spectrum disorder	Autism spectrum disorder	rs1594344233, rs886039692, rs1064795655, rs1131691548, rs1454466097, rs774152851	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Autism	autism	N/A	N/A	GenCC
Mental retardation	intellectual disability	N/A	N/A	GenCC
Myasthenic Syndrome	congenital myasthenic syndrome	N/A	N/A	GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	36182950
Autism Spectrum Disorder	Associate	22495309, 22495311, 23160955, 25989142, 27790361, 27824329, 28321286, 29317598, 30376831, 30392976, 31311581, 31526516, 32193494, 32918531, 33663567 View all (10 more)
Autistic Disorder	Associate	22495311, 22521361, 23801657, 24776741, 25961944, 25989142, 27790361, 27824329, 28321286, 29034068, 32918531, 34259569, 34415117, 35110736, 35205412 View all (5 more)
Autoimmune Hypophysitis	Associate	22193973
Bipolar Disorder	Associate	28321286
Brain Diseases	Associate	26668231
Breast Neoplasms	Associate	26474971, 28840378
Burkitt Lymphoma	Associate	30617194
Carcinoma Hepatocellular	Associate	30043858
Cholangiocarcinoma	Associate	33141432
Chromosome Aberrations	Associate	22521361
Developmental Disabilities	Associate	34415117, 36575212, 38441608
Disease	Associate	35385734, 36182950
Dystonia	Associate	34415117, 38441608
Fetal Alcohol Spectrum Disorders	Associate	34415117
Growth Disorders	Associate	35110736
Intellectual Disability	Associate	28321286, 36182950
Lymphoma	Associate	30043858
Megalencephaly	Associate	23160955, 31674007, 35385734, 36222238
Microcephaly	Associate	23160955
Mowat Wilson syndrome	Associate	38441608
Neoplasm Metastasis	Associate	25499215
Neoplasms	Associate	24211491, 28321286, 28475857, 30043858, 31320640, 40328966
Neoplasms	Inhibit	26474971
Neurologic Manifestations	Associate	31526516, 33323470
Obsessive Compulsive Disorder	Associate	31771860
Ocular Albinism type 1	Associate	33998396
Prostatic Neoplasms	Associate	25499215
Schizophrenia	Associate	28321286
Seizures	Associate	31526516
Simpson Golabi Behmel syndrome	Associate	28475857
Skin Manifestations	Associate	38441608
Sleep Wake Disorders	Associate	33998396
Stomach Neoplasms	Associate	30043858
Triple Negative Breast Neoplasms	Associate	40328966

CHD8 (chromodomain helicase DNA binding protein 8)