AutismKB 2.0

Evidence Details for DCHS2


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Basic Information Top
Gene Symbol:DCHS2 ( CDH27,CDHJ,CDHR7,FLJ20047,PCDH23,PCDHJ )
Gene Full Name: dachsous 2 (Drosophila)
Band: 4q31.3
Quick LinksEntrez ID:54798; OMIM: 612486; Uniprot ID:PCD23_HUMAN; ENSEMBL ID: ENSG00000197410; HGNC ID: 23111
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCHS2|54798|nucleotide
ATGAGCCCTTGTGGGCGGAAGATGGGCGAAGGGCGTCAGCAGCGGCGGGCTCCGGTCGGGAAGCTCCTTCTGCTCCCCGGGAGGAGAGATACACCCCATGGGCGG
TCAGGCAGCAGCGGCGCCAGGACGCAGCGCTCCCTGCTCTGGCTCTTGGTGCACGTGTGGCTGTGGGCGGCCTCGGGCTCCTCTGCCCAGTTGTTCAACCTCACC
CTTTCCGTAGATGAGGGGCTTCCCCCGGACACGCTGGTAGGTGACATCCGCGCCGGGCTGCCGGCCGCGCAGCAGCAGGAGGGGAGCGGCTTCTTTCTGTCGGAG
GACTCCGATGACTCCCCGCTGCTGGACGACTTCCACGTGCACCCGGACACCGGCATCATCCGCACTGCGCGGCGCCTGGACCGCGAGCGGCGGGACCACTACAGC
TTCGTCGCCGCCACGCTGCTGGGCGCTGTGGTGCAGGTGGAGATTCGCGTCAACGACGTGAATGACCACTCGCCCCGCTTTCCCCTCGACTCCCTGCAACTCGAC
GTCTCCGAGCTCAGCCCGCCAGGGACCGCCTTCCGCCTGCCAGTTGCCCACGATCCGGACGCCGGACTGTTCAGCACTCAGGGCTACACCCTGGTGCAACCGTCC
GACCTGCCCAAGGACCCCGCAGGCCCGTTCTTCCAGTTGCGCTACCGGACTCCGGGGCCACTACCGTCACCGCTTTTGCCAGGCTCCTCGTCACCCCTGGAGCCT
CTAGATCTGGTGCTGCTGCGGCGCTTGGACCGAGAGGAGGCGGCGGCGCACCGGCTGCAGATCGAGGCATGGGACGGCGGCCGACCCCGGCGCACCGGCCTCCTG
AGCGTGGAGCTGCGCGTGCTGGATGAGAACGACAACCCGCCGGTCTTTGAGCAGGACGAGTACCGCGCCGCGGTGCGCGAGGACGCCCAGCCGGGCGCCGAGGTC
TGTCGCGTGCGCGCCACCGACCGCGACCTGGGGCCCAATGGCTTCGTGCGCTACAGCGTCCGCGCCCGGCAAGTGCCTGGGGCGGGTAGCGGCGGCGGGGCACTG
GGCGACGCGGCCTACTTCGCGGTGGAGGAGCTGAGCGGCGTGGTGCGAGTGTGGAGACCTCTGGACCGCGAGGCACAGGCCTGGCACCAGTTGGTGGTGGAGGCC
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>DCHS2|54798|protein
MSPCGRKMGEGRQQRRAPVGKLLLLPGRRDTPHGRSGSSGARTQRSLLWLLVHVWLWAASGSSAQLFNLTLSVDEGLPPDTLVGDIRAGLPAAQQQEGSGFFLSE
DSDDSPLLDDFHVHPDTGIIRTARRLDRERRDHYSFVAATLLGAVVQVEIRVNDVNDHSPRFPLDSLQLDVSELSPPGTAFRLPVAHDPDAGLFSTQGYTLVQPS
DLPKDPAGPFFQLRYRTPGPLPSPLLPGSSSPLEPLDLVLLRRLDREEAAAHRLQIEAWDGGRPRRTGLLSVELRVLDENDNPPVFEQDEYRAAVREDAQPGAEV
CRVRATDRDLGPNGFVRYSVRARQVPGAGSGGGALGDAAYFAVEELSGVVRVWRPLDREAQAWHQLVVEARDGGAEPEVATVRVSIAVLDVNDNRPAIHVLFLTE
GGVARVSEGARPGDYVARVSVSDADGDWEKEDEATGELGVGLGDGSISLSLEGGEGDFALLPGGPPGVFFLCVEGPLDRESRDLYELLLVATDAGSPPLSTEETL
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top