AutismKB 2.0

Evidence Details for DIP2B


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Basic Information Top
Gene Symbol:DIP2B ( KIAA1463,MGC104005 )
Gene Full Name: DIP2 disco-interacting protein 2 homolog B (Drosophila)
Band: 12q13.12
Quick LinksEntrez ID:57609; OMIM: 611379; Uniprot ID:DIP2B_HUMAN; ENSEMBL ID: ENSG00000066084; HGNC ID: 29284
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DIP2B|57609|nucleotide
ATGGCGGAACGAGGCCTGGAGCCGTCGCCGGCCGCGGTGGCGGCGCTGCCGCCTGAAGTGCGGGCGCAGCTGGCGGAGCTGGAGCTGGAGCTCTCGGAGGGGGAC
ATCACCCAGAAGGGCTATGAAAAGAAAAGGTCCAAACTCCTATCTCCTTACAGCCCGCAGACACAAGAAACTGATTCAGCAGTACAGAAAGAACTTAGAAACCAG
ACACCTGCTCCATCTGCAGCTCAAACTTCTGCTCCCTCTAAGTACCACCGAACTCGATCTGGGGGAGCCAGGGATGAACGATATCGATCAGATATCCACACAGAA
GCAGTTCAGGCTGCACTGGCAAAGCATAAAGAACAGAAGATGGCTTTGCCCATGCCAACCAAAAGGCGATCCACATTTGTTCAGTCTCCTGCAGATGCCTGCACA
CCTCCTGACACATCTTCGGCCTCTGAGGATGAGGGCTCTCTGAGACGCCAAGCTGCGCTCTCTGCTGCCTTGCAACAGAGCTTACAGAATGCTGAGTCCTGGATC
AACCGTTCAATTCAGGGATCGTCCACTTCTTCATCCGCATCTTCTACGCTGTCCCACGGAGAGGTCAAAGGAACCAGTGGGTCTCTAGCTGATGTATTTGCCAAT
ACTCGAATAGAGAATTTCTCTGCTCCTCCTGATGTCACTACAACTACCTCTTCCTCCTCATCATCTTCCTCAATTCGCCCAGCAAACATTGACCTGCCCCCCTCG
GGGATAGTTAAAGGCATGCACAAAGGATCCAACAGGTCCAGCCTTATGGATACAGCTGATGGTGTTCCTGTCAGTAGCAGAGTATCTACAAAAATCCAGCAGCTT
CTGAACACTCTGAAACGACCCAAAAGGCCTCCCTTAAAGGAATTTTTTGTGGATGACTCTGAAGAAATTGTGGAAGTACCTCAGCCAGACCCCAACCAGCCCAAG
CCGGAGGGACGGCAGATGACCCCTGTGAAAGGAGAGCCTTTAGGAGTCATCTGTAACTGGCCTCCTGCTCTTGAATCTGCCCTGCAGCGCTGGGGTACCACTCAA
GCAAAATGCTCCTGTCTGACTGCACTGGACATGACAGGGAAACCAGTTTACACTCTTACATATGGAAAGTTGTGGAGCAGAAGTTTAAAGTTGGCCTACACACTT
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>DIP2B|57609|protein
MAERGLEPSPAAVAALPPEVRAQLAELELELSEGDITQKGYEKKRSKLLSPYSPQTQETDSAVQKELRNQTPAPSAAQTSAPSKYHRTRSGGARDERYRSDIHTE
AVQAALAKHKEQKMALPMPTKRRSTFVQSPADACTPPDTSSASEDEGSLRRQAALSAALQQSLQNAESWINRSIQGSSTSSSASSTLSHGEVKGTSGSLADVFAN
TRIENFSAPPDVTTTTSSSSSSSSIRPANIDLPPSGIVKGMHKGSNRSSLMDTADGVPVSSRVSTKIQQLLNTLKRPKRPPLKEFFVDDSEEIVEVPQPDPNQPK
PEGRQMTPVKGEPLGVICNWPPALESALQRWGTTQAKCSCLTALDMTGKPVYTLTYGKLWSRSLKLAYTLLNKLGTKNEPVLKPGDRVALVYPNNDPVMFMVAFY
GCLLAEVIPVPIEVPLTRKDAGGQQIGFLLGSCGIALALTSEVCLKGLPKTQNGEIVQFKGWPRLKWVVTDSKYLSKPPKDWQPHISPAGTEPAYIEYKTSKEGS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top