AutismKB 2.0

Evidence Details for DENND5A


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Basic Information Top
Gene Symbol:DENND5A ( FLJ22354,FLJ33829,FLJ43455,KIAA1091,RAB6IP1 )
Gene Full Name: DENN/MADD domain containing 5A
Band: 11p15.4
Quick LinksEntrez ID:23258; OMIM: NA; Uniprot ID:DEN5A_HUMAN; ENSEMBL ID: ENSG00000184014; HGNC ID: 19344
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DENND5A|23258|nucleotide
ATGAGTGGCGGCGGCGGCGGAGGGGGCTCGGCGCCCAGTCGCTTCGCCGACTACTTTGTCATCTGCGGACTGGACACGGAGACCGGGCTGGAGCCGGACGAGCTG
TCGGCATTATGCCAGTACATACAGGCTTCTAAAGCCAGGGATGGTGCCAGCCCTTTCATTTCAAGTACGACTGAAGGAGAAAATTTTGAGCAGACACCATTGAGA
AGAACATTCAAATCTAAGGTCCTTGCACGATATCCTGAGAACGTAGAATGGAATCCCTTTGACCAAGATGCAGTAGGAATGCTATGTATGCCGAAAGGGCTGGCA
TTCAAGACCCAGGCTGATCCCAGGGAGCCCCAATTCCATGCCTTTATTATCACAAGGGAGGATGGCTCTCGGACATTTGGGTTTGCCCTCACATTTTATGAAGAG
GTGACTAGCAAGCAGATCTGCAGTGCAATGCAGACCCTCTACCACATGCACAATGCTGAGTATGATGTCCTACATGCTCCCCCTGCTGATGACAGAGACCAGAGC
AGCATGGAGGATGGTGAAGACACTCCTGTGACCAAACTGCAGCGCTTCAACTCCTATGACATTAGCCGGGACACTCTCTACGTCTCTAAGTGCATCTGCCTCATC
ACACCCATGTCTTTCATGAAGGCATGTCGGAGCGTGCTGGAGCAACTCCACCAGGCAGTCACTTCACCTCAGCCCCCTCCACTGCCCCTTGAGAGCTACATATAC
AACGTACTCTACGAGGTGCCGCTCCCACCTCCTGGCCGGTCCTTGAAGTTTTCTGGGGTCTATGGGCCAATAATCTGCCAGAGACCAAGTACCAATGAGCTTCCC
CTATTTGACTTTCCTGTCAAAGAGGTTTTTGAACTGCTCGGGGTGGAGAATGTGTTTCAGCTTTTTACTTGTGCCCTTCTGGAGTTTCAAATCCTGCTCTACTCA
CAGCATTACCAGAGACTGATGACTGTGGCGGAGACGATTACAGCTCTCATGTTTCCTTTCCAGTGGCAGCATGTCTATGTCCCTATTCTCCCAGCTTCTCTCCTG
CATTTCTTAGATGCTCCTGTTCCATACCTGATGGGTTTGCATTCCAATGGCCTGGATGACCGGTCAAAGCTGGAGCTGCCTCAAGAGGCTAACCTCTGCTTTGTG
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>DENND5A|23258|protein
MSGGGGGGGSAPSRFADYFVICGLDTETGLEPDELSALCQYIQASKARDGASPFISSTTEGENFEQTPLRRTFKSKVLARYPENVEWNPFDQDAVGMLCMPKGLA
FKTQADPREPQFHAFIITREDGSRTFGFALTFYEEVTSKQICSAMQTLYHMHNAEYDVLHAPPADDRDQSSMEDGEDTPVTKLQRFNSYDISRDTLYVSKCICLI
TPMSFMKACRSVLEQLHQAVTSPQPPPLPLESYIYNVLYEVPLPPPGRSLKFSGVYGPIICQRPSTNELPLFDFPVKEVFELLGVENVFQLFTCALLEFQILLYS
QHYQRLMTVAETITALMFPFQWQHVYVPILPASLLHFLDAPVPYLMGLHSNGLDDRSKLELPQEANLCFVDIDNHFIELPEDLPQFPNKLEFVQEVSEILMAFGI
PPEGNLHCSESASKLKRLRASELVSDKRNGNIAGSPLHSYELLKENETIARLQALVKRTGVSLEKLEVREDPSSNKDLKVQCDEEELRIYQLNIQIREVFANRFT
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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) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 20 (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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top
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
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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