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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018