AutismKB 2.0

Evidence Details for DBNL


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Basic Information Top
Gene Symbol:DBNL ( ABP1,HIP-55,SH3P7 )
Gene Full Name: drebrin-like
Band: 7p13
Quick LinksEntrez ID:28988; OMIM: 610106; Uniprot ID:DBNL_HUMAN; ENSEMBL ID: ENSG00000136279; HGNC ID: 2696
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DBNL|28988|nucleotide
ATGGCGGCGAACCTGAGCCGGAACGGGCCAGCGCTGCAAGAGGCCTACGTGCGGGTGGTCACCGAGAAGTCCCCGACCGACTGGGCTCTCTTTACCTATGAAGGC
AACAGCAATGACATCCGCGTGGCTGGCACAGGGGAGGGTGGCCTGGAGGAGATGGTGGAGGAGCTCAACAGCGGGAAGGTGATGTACGCCTTCTGCAGAGTGAAG
GACCCCAACTCTGGACTGCCCAAATTTGTCCTCATCAACTGGACAGGCGAGGGCGTGAACGATGTGCGGAAGGGAGCCTGTGCCAGCCACGTCAGCACCATGGCC
AGCTTCCTGAAGGGGGCCCATGTGACCATCAACGCACGGGCCGAGGAGGATGTGGAGCCTGAGTGCATCATGGAGAAGGTGGCCAAGGCTTCAGGTGCCAACTAC
AGCTTTCACAAGGAGAGTGGCCGCTTCCAGGACGTGGGACCCCAGGCCCCAGTGGGCTCTGTGTACCAGAAGACCAATGCCGTGTCTGAGATTAAAAGGGTTGGT
AAAGACAGCTTCTGGGCCAAAGCAGAGAAGGAGGAGGAGAACCGTCGGCTGGAGGAAAAGCGGCGGGCCGAGGAGGCACAGCGGCAGCTGGAGCAGGAGCGCCGG
GAGCGTGAGCTGCGTGAGGCTGCACGCCGGGAGCAGCGCTATCAGGAGCAGGGTGGCGAGGCCAGCCCCCAGAGGACGTGGGAGCAGCAGCAAGAAGTGGTTTCA
AGGAACCGAAATGAGCAGGAGTCTGCCGTGCACCCGAGGGAGATTTTCAAGCAGAAGGAGAGGGCCATGTCCACCACCTCCATCTCCAGTCCTCAGCCTGGCAAG
CTGAGGAGCCCCTTCCTGCAGAAGCAGCTCACCCAACCAGAGACCCACTTTGGCAGAGAGCCAGCTGCTGCCATCTCAAGGCCCAGGGCAGATCTCCCTGCTGAG
GAGCCGGCGCCCAGCACTCCTCCATGTCTGGTGCAGGCAGAAGAGGAGGCTGTGTATGAGGAACCTCCAGAGCAGGAGACCTTCTACGAGCAGCCCCCACTGGTG
CAGCAGCAAGGTGCTGGCTCTGAGCACATTGACCACCACATTCAGGGCCAGGGGCTCAGTGGGCAAGGGCTCTGTGCCCGTGCCCTGTACGACTACCAGGCAGCC
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>DBNL|28988|protein
MAANLSRNGPALQEAYVRVVTEKSPTDWALFTYEGNSNDIRVAGTGEGGLEEMVEELNSGKVMYAFCRVKDPNSGLPKFVLINWTGEGVNDVRKGACASHVSTMA
SFLKGAHVTINARAEEDVEPECIMEKVAKASGANYSFHKESGRFQDVGPQAPVGSVYQKTNAVSEIKRVGKDSFWAKAEKEEENRRLEEKRRAEEAQRQLEQERR
ERELREAARREQRYQEQGGEASPQRTWEQQQEVVSRNRNEQESAVHPREIFKQKERAMSTTSISSPQPGKLRSPFLQKQLTQPETHFGREPAAAISRPRADLPAE
EPAPSTPPCLVQAEEEAVYEEPPEQETFYEQPPLVQQQGAGSEHIDHHIQGQGLSGQGLCARALYDYQAADDTEISFDPENLITGIEVIDEGWWRGYGPDGHFGM
FPANYVELIE
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top