AutismKB 2.0

Evidence Details for DEF6


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Basic Information Top
Gene Symbol:DEF6 ( IBP,SLAT,SWAP70L )
Gene Full Name: differentially expressed in FDCP 6 homolog (mouse)
Band: 6p21.31
Quick LinksEntrez ID:50619; OMIM: 610094; Uniprot ID:DEFI6_HUMAN; ENSEMBL ID: ENSG00000023892; HGNC ID: 2760
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DEF6|50619|nucleotide
ATGGCCCTGCGCAAGGAACTGCTCAAGTCCATCTGGTACGCCTTTACCGCGCTGGACGTGGAGAAGAGTGGCAAAGTCTCCAAGTCCCAGCTCAAGGTGCTGTCC
CACAACCTGTACACGGTCCTGCACATCCCCCATGACCCCGTGGCCCTGGAGGAACACTTCCGAGATGATGATGACGGCCCTGTGTCCAGCCAGGGATACATGCCC
TACCTCAACAAGTACATCCTGGACAAGGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCA
GATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGAT
GAGGTGGAATACCTGCTGAAAAAGGTACTCAGCAGCATGAGCTTGGAGGTGAGCTTGGGTGAGCTGGAGGAGCTTCTGGCCCAGGAGGCCCAGGTGGCCCAGACC
ACCGGGGGGCTCAGCGTCTGGCAGTTCCTGGAGCTCTTCAATTCGGGCCGCTGCCTGCGGGGCGTGGGCCGGGACACCCTCAGCATGGCCATCCACGAGGTCTAC
CAGGAGCTCATCCAAGATGTCCTGAAGCAGGGCTACCTGTGGAAGCGAGGGCACCTGAGAAGGAACTGGGCCGAACGCTGGTTCCAGCTGCAGCCCAGCTGCCTC
TGCTACTTTGGGAGTGAAGAGTGCAAAGAGAAAAGGGGCATTATCCCGCTGGATGCACACTGCTGCGTGGAGGTGCTGCCAGACCGCGACGGAAAGCGCTGCATG
TTCTGTGTGAAGACAGCCAACCGCACGTATGAGATGAGCGCCTCAGACACGCGCCAGCGCCAGGAGTGGACAGCTGCCATCCAGATGGCGATCCGGCTGCAGGCC
GAGGGGAAGACGTCCCTACACAAGGACCTGAAGCAGAAACGGCGCGAGCAGCGGGAGCAGCGGGAGCGGCGCCGGGCGGCCAAGGAAGAGGAGCTGCTGCGGCTG
CAGCAGCTGCAGGAGGAGAAGGAGCGGAAGCTGCAGGAGCTGGAGCTGCTGCAGGAGGCGCAGCGGCAGGCCGAGCGGCTGCTGCAGGAGGAGGAGGAACGGCGC
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>DEF6|50619|protein
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRA
DSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVY
QELIQDVLKQGYLWKRGHLRRNWAERWFQLQPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQRQEWTAAIQMAIRLQA
EGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEE
AARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADED
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top