AutismKB 2.0

Evidence Details for ZIC5


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Basic Information Top
Gene Symbol:ZIC5 ( - )
Gene Full Name: Zic family member 5 (odd-paired homolog, Drosophila)
Band: 13q32.3
Quick LinksEntrez ID:85416; OMIM: NA; Uniprot ID:ZIC5_HUMAN; ENSEMBL ID: ENSG00000139800; HGNC ID: 20322
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZIC5|85416|nucleotide
ATGTTTTTGAAGGCGGGCAGAGGGAATAAAGTCCCCCCAGTGAGGGTCTATGGGCCTGATTGTGTAGTTCTGATGGAGCCCCCTTTGAGCAAGAGGAACCCGCCA
GCGCTGAGATTAGCGGATTTGGCAACGGCTCAGGTCCAGCCGCTTCAGAATATGACAGGCTTCCCGGCGCTGGCCGGCCCGCCCGCCCACTCCCAACTCCGGGCC
GCCGTCGCGCACCTCCGCCTGCGGGACCTGGGCGCTGACCCCGGCGTGGCCACCACTCCGCTCGGACCCGAGCACATGGCCCAGGCGAGCACGCTGGGCCTCAGC
CCTCCCTCCCAGGCGTTCCCGGCACACCCGGAGGCTCCGGCAGCCGCCGCCCGTGCTGCAGCCTTGGTCGCGCACCCCGGCGCGGGCAGCTACCCCTGCGGCGGG
GGCAGCAGTGGCGCGCAGCCCTCCGCGCCCCCGCCCCCAGCCCCTCCTCTTCCTCCCACCCCTTCACCCCCTCCCCCTCCCCCGCCTCCTCCTCCTCCTGCCCTC
TCGGGCTACACCACCACCAACAGTGGCGGCGGCGGCAGCAGCGGCAAAGGCCACAGCAGGGACTTCGTCCTCCGGAGGGACCTTTCCGCCACGGCCCCCGCGGCG
GCCATGCACGGGGCCCCGCTCGGAGGGGAGCAGCGGTCCGGCACCGGCTCCCCCCAGCACCCGGCCCCGCCTCCCCACTCGGCCGGCATGTTCATCTCCGCCAGC
GGCACCTACGCGGGCCCGGACGGCAGCGGCGGCCCGGCGCTCTTCCCCGCGCTGCACGACACGCCGGGGGCCCCAGGCGGCCACCCGCACCCGCTCAACGGCCAG
ATGCGCCTGGGGCTGGCGGCGGCAGCGGCAGCCGCGGCGGCTGAGCTGTACGGCCGCGCCGAACCGCCCTTCGCGCCGCGCTCTGGGGACGCGCACTACGGGGCG
GTTGCGGCCGCAGCGGCGGCCGCCCTGCACGGCTACGGAGCCGTGAACTTAAACCTGAACCTGGCGGCTGCGGCGGCCGCAGCAGCGGCCGGGCCCGGGCCCCAC
CTGCAGCACCACGCGCCGCCCCCGGCGCCGCCGCCGCCGCCGGCGCCCGCGCAGCACCCGCACCAGCACCACCCCCACCTCCCAGGGGCGGCTGGGGCCTTCCTG
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>ZIC5|85416|protein
MFLKAGRGNKVPPVRVYGPDCVVLMEPPLSKRNPPALRLADLATAQVQPLQNMTGFPALAGPPAHSQLRAAVAHLRLRDLGADPGVATTPLGPEHMAQASTLGLS
PPSQAFPAHPEAPAAAARAAALVAHPGAGSYPCGGGSSGAQPSAPPPPAPPLPPTPSPPPPPPPPPPPALSGYTTTNSGGGGSSGKGHSRDFVLRRDLSATAPAA
AMHGAPLGGEQRSGTGSPQHPAPPPHSAGMFISASGTYAGPDGSGGPALFPALHDTPGAPGGHPHPLNGQMRLGLAAAAAAAAAELYGRAEPPFAPRSGDAHYGA
VAAAAAAALHGYGAVNLNLNLAAAAAAAAAGPGPHLQHHAPPPAPPPPPAPAQHPHQHHPHLPGAAGAFLRYMRQPIKQELICKWIDPDELAGLPPPPPPPPPPP
PPPPAGGAKPCSKTFGTMHELVNHVTVEHVGGPEQSSHVCFWEDCPREGKPFKAKYKLINHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGEKPFKCEF
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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 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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