AutismKB 2.0

Evidence Details for DEPDC7


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Basic Information Top
Gene Symbol:DEPDC7 ( TR2,dJ85M6.4 )
Gene Full Name: DEP domain containing 7
Band: 11p13
Quick LinksEntrez ID:91614; OMIM: 612294; Uniprot ID:DEPD7_HUMAN; ENSEMBL ID: ENSG00000121690; HGNC ID: 29899
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DEPDC7|91614|nucleotide
ATGGCCACCGTGCAGGAGAAGGCTGCTGCGCTGAACCTCTCGGCTCTCCACAGCCCCGCGCACAGGCCTCCGGGTTTCAGTGTAGCTCAGAAGCCATTTGGAGCC
ACGTATGTATGGAGCAGCATCATAAACACTCTTCAAACACAAGTGGAAGTGAAAAAACGAAGGCACCGTTTAAAACGACATAATGACTGCTTTGTTGGTTCAGAA
GCTGTGGATGTCATTTTTTCTCACCTAATTCAGAATAAGTATTTTGGTGATGTAGATATTCCTCGAGCCAAAGTGGTGAGAGTGTGTCAAGCGCTTATGGACTAC
AAAGTATTTGAAGCAGTTCCAACCAAAGTCTTTGGAAAAGACAAAAAACCTACATTTGAAGATAGTAGTTGCAGCCTTTATAGATTCACCACAATACCTAACCAA
GACAGTCAGTTAGGCAAAGAGAACAAACTATATTCACCTGCCAGGTATGCAGATGCATTATTTAAGTCATCCGATATCAGATCAGCCAGTTTAGAGGACCTGTGG
GAAAATCTGAGTTTAAAGCCTGCCAACTCCCCTCATGTAAATATCTCTGCAACCTTGTCTCCACAAGTTATTAATGAAGTGTGGCAAGAAGAAACAATTGGGCGT
CTACTACAACTTGTAGACCTTCCACTTCTTGACTCCTTACTGAAACAGCAAGAGGCTGTACCTAAAATTCCTCAACCTAAGAGGCAGTCCACCATGGTCAACAGC
AGTAACTATCTGGATCGAGGGATTCTCAAGGCTTATAGTGACTCTCAGGAAGATGAGTGGCTCTCGGCAGCAATTGACTGTTTAGAATACCTTCCAGACCAAATG
GTGGTGGAAATAAGCAGAAGCTTTCCTGAGCAACCAGACCGAACAGACTTAGTGAAAGAACTTCTGTTTGATGCCATTGGCAGATATTACAGTAGTAGGGAACCT
CTGTTAAATCACTTATCTGACGTTCATAATGGAATTGCAGAACTCTTAGTGAATGGGAAGACGGAAATAGCTTTAGAAGCTACCCAGCTCCTTCTAAAGCTTTTA
GATTTCCAAAATAGAGAAGAATTTAGAAGACTACTGTATTTCATGGCTGTTGCAGCAAATCCTTCTGAGTTTAAATTACAGAAAGAAAGTGACAACCGAATGGTT
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>DEPDC7|91614|protein
MATVQEKAAALNLSALHSPAHRPPGFSVAQKPFGATYVWSSIINTLQTQVEVKKRRHRLKRHNDCFVGSEAVDVIFSHLIQNKYFGDVDIPRAKVVRVCQALMDY
KVFEAVPTKVFGKDKKPTFEDSSCSLYRFTTIPNQDSQLGKENKLYSPARYADALFKSSDIRSASLEDLWENLSLKPANSPHVNISATLSPQVINEVWQEETIGR
LLQLVDLPLLDSLLKQQEAVPKIPQPKRQSTMVNSSNYLDRGILKAYSDSQEDEWLSAAIDCLEYLPDQMVVEISRSFPEQPDRTDLVKELLFDAIGRYYSSREP
LLNHLSDVHNGIAELLVNGKTEIALEATQLLLKLLDFQNREEFRRLLYFMAVAANPSEFKLQKESDNRMVVKRIFSKAIVDNKNLSKGKTDLLVLFLMDHQKDVF
KIPGTLHKIVSVKLMAIQNGRDPNRDAGYIYCQRIDQRDYSNNTEKTTKDELLNLLKTLDEDSKLSAKEKKKLLGQFYKCHPDIFIEHFGD
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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top