AutismKB 2.0

Evidence Details for ZKSCAN5


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Basic Information Top
Gene Symbol:ZKSCAN5 ( FLJ39233,KIAA1015,MGC33710,ZFP95,ZNF914 )
Gene Full Name: zinc finger with KRAB and SCAN domains 5
Band: 7q22.1
Quick LinksEntrez ID:23660; OMIM: 611272; Uniprot ID:ZKSC5_HUMAN; ENSEMBL ID: ENSG00000196652; HGNC ID: 12867
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZKSCAN5|23660|nucleotide
ATGATAATGACCGAATCCCGAGAAGTTATAGACTTAGACCCCCCAGCTGAGACTTCCCAGGAGCAGGAAGACCTTTTCATAGTGAAGGTGGAAGAAGAAGACTGC
ACCTGGATGCAGGAGTACAACCCGCCAACGTTTGAGACTTTTTACCAGCGCTTCAGGCACTTCCAGTACCATGAGGCTTCAGGACCCCGGGAGGCTCTCAGCCAA
CTCCGGGTGCTCTGCTGTGAGTGGCTGAGGCCCGAGCTGCACACGAAGGAGCAGATCCTGGAGCTGCTGGTGCTGGAGCAGTTCCTGACCATCCTGCCTGAAGAG
TTCCAGCCCTGGGTGAGGGAACATCACCCTGAAAGTGGAGAAGAGGCGGTGGCCGTGATAGAAAATATACAGCGAGAACTTGAGGAACGCAGACAGCAGATTGTT
GCCTGCCCTGATGTGCTTCCTCGGAAGATGGCAACACCTGGAGCAGTGCAGGAGTCCTGCAGCCCCCATCCCCTGACCGTGGACACCCAGCCTGAGCAAGCGCCA
CAGAAGCCTCGTCTCCTGGAGGAAAATGCCCTTCCTGTTCTCCAAGTTCCTTCCCTTCCCCTGAAGGACAGCCAGGAGCTGACAGCTTCACTTCTCTCAACTGGG
TCCCAGAAGTTGGTGAAAATTGAAGAGGTGGCTGATGTGGCTGTATCCTTCATCCTGGAGGAATGGGGGCATTTGGACCAGTCCCAGAAGTCCCTTTATAGGGAT
GACAGGAAGGAGAACTATGGGAGTATTACTTCCATGGGTTATGAGTCCAGGGACAATATGGAGCTCATAGTGAAGCAGATTTCTGATGACTCTGAATCACACTGG
GTGGCGCCAGAACACACCGAAAGGAGCGTTCCTCAGGATCCAGACTTTGCAGAAGTCAGTGACCTTAAAGGCATGGTACAAAGGTGGCAGGTCAACCCCACTGTG
GGGAAATCAAGGCAGAATCCTTCCCAGAAAAGGGATCTGGATGCAATCACAGACATCAGCCCTAAGCAAAGCACACATGGCGAGAGAGGGCACAGATGCAGCGAT
TGTGGCAAATTCTTCCTCCAAGCCTCAAACTTTATTCAGCATCGGCGCATCCACACTGGAGAAAAACCGTTTAAGTGCGGAGAATGTGGGAAGAGCTACAATCAG
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>ZKSCAN5|23660|protein
MIMTESREVIDLDPPAETSQEQEDLFIVKVEEEDCTWMQEYNPPTFETFYQRFRHFQYHEASGPREALSQLRVLCCEWLRPELHTKEQILELLVLEQFLTILPEE
FQPWVREHHPESGEEAVAVIENIQRELEERRQQIVACPDVLPRKMATPGAVQESCSPHPLTVDTQPEQAPQKPRLLEENALPVLQVPSLPLKDSQELTASLLSTG
SQKLVKIEEVADVAVSFILEEWGHLDQSQKSLYRDDRKENYGSITSMGYESRDNMELIVKQISDDSESHWVAPEHTERSVPQDPDFAEVSDLKGMVQRWQVNPTV
GKSRQNPSQKRDLDAITDISPKQSTHGERGHRCSDCGKFFLQASNFIQHRRIHTGEKPFKCGECGKSYNQRVHLTQHQRVHTGEKPYKCQVCGKAFRVSSHLVQH
HSVHSGERPYGCNECGKNFGRHSHLIEHLKRHFREKSQRCSDKRSKNTKLSVKKKISEYSEADMELSGKTQRNVSQVQDFGEGCEFQGKLDRKQGIPMKEILGQP
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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 (2) 0 (0) 0 (0) 0 (0) 2 (3)
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
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
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