AutismKB 2.0

Evidence Details for DIAPH3


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Basic Information Top
Gene Symbol:DIAPH3 ( DKFZp434C0931,DKFZp686A13178,DRF3,FLJ34705,diap3,mDia2 )
Gene Full Name: diaphanous homolog 3 (Drosophila)
Band: 13q21.2
Quick LinksEntrez ID:81624; OMIM: NA; Uniprot ID:DIAP3_HUMAN; ENSEMBL ID: ENSG00000139734; HGNC ID: 15480
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DIAPH3|81624|nucleotide
ATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCGCTGGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGCCGGGAAAGCAAGATG
CCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGCCCAGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTTCATTTAAATATTAGGACACTGACGGATGAT
ATGCTGGACAAATTTGCCAGCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGATTGCTCAGCAGCA
CCTTTAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGAAGATATGAATTTAAATGAAGATAAAAAG
GCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAATACTGCTTCTAAGACAGGAAGTCTTAAGAGAAGCCGACAGATCTCA
CCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTGGAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGG
GTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTGGAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAA
GTCATACAGTGTCTAAAAGCCCTGATGAATACGCAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGA
CACCCCAATATGATGACAGATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGT
GAAGAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAGTAGCTTGTATGCAGCTCATCAATGCCCTGGTTACA
TCTCCTGATGATTTGGATTTCAGGCTTCACATCAGAAATGAATTTATGCGTTGTGGATTGAAAGAGATATTGCCAAATTTAAAATGCATTAAGAATGATGGCCTG
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>DIAPH3|81624|protein
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFHLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAA
PLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSW
VESFGHEGLGLLLDILEKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAG
EEKKIDRFFCIVEGLRHNSVQLQVACMQLINALVTSPDDLDFRLHIRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDV
YNMVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYFKLIDECVSQIVLHRDGMDPDFTYRKRLDLDLTQFVDICIDQAKLEEFEEKASELYKKFEKEFTDHQE
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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 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 1 (1) 12 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Daniel, 2007 - SNP microarrayASD - - - - 1 - 1
Vorstman, 2010 Netherlands FISH, SNP microarrayautism 1 1 - - - - -
Linkage Studies Top