AutismKB 2.0

Evidence Details for ZSCAN21


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Basic Information Top
Gene Symbol:ZSCAN21 ( DKFZp434L134,DKFZp686H10254,NY-REN-21,ZNF38,Zipro1 )
Gene Full Name: zinc finger and SCAN domain containing 21
Band: 7q22.1
Quick LinksEntrez ID:7589; OMIM: 601261; Uniprot ID:ZSC21_HUMAN; ENSEMBL ID: ENSG00000166529; HGNC ID: 13104
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZSCAN21|7589|nucleotide
ATGATGACCAAGGTACTAGGCATGGCCCCAGTTCTGGGCCCTAGGCCTCCACAGGAGCAGGTGGGGCCTCTGATGGTAAAAGTCGAGGAGAAAGAAGAGAAAGGC
AAGTACCTTCCTAGCCTGGAGATGTTCCGCCAGCGCTTCAGGCAGTTTGGGTACCATGATACCCCTGGACCCCGAGAGGCCCTGAGCCAACTCCGGGTGCTCTGC
TGTGAGTGGCTGAGGCCCGAGATCCACACCAAGGAGCAGATCCTGGAGCTACTGGTGCTGGAGCAGTTCCTGACCATCCTGCCCCAGGAGCTCCAGGCCTGGGTG
CAGGAGCATTGCCCGGAGAGCGCTGAAGAGGCTGTCACTCTCCTCGAAGATCTGGAGCGGGAACTGGATGAGCCAGGACACCAGGTCTCAACTCCTCCAAACGAA
CAGAAACCGGTGTGGGAGAAGATATCCTCCTCAGGAACTGCAAAGGAATCCCCGAGCAGCATGCAGCCACAGCCCTTGGAGACCAGTCACAAATACGAGTCTTGG
GGGCCCCTGTACATCCAAGAGTCTGGTGAGGAGCAGGAGTTCGCTCAAGATCCAAGAAAGGTCCGAGATTGCAGATTGAGTACCCAGCACGAGGAATCAGCAGAT
GAGCAGAAAGGTTCTGAAGCAGAGGGGCTCAAAGGGGATATAATTTCTGTGATTATCGCCAATAAACCTGAGGCCAGCTTAGAGAGGCAGTGCGTAAACCTTGAA
AATGAAAAAGGAACAAAACCCCCTCTTCAAGAGGCAGGCTCCAAGAAAGGTAGAGAATCAGTTCCTACTAAACCTACCCCAGGAGAGAGACGTTATATATGTGCT
GAATGTGGCAAAGCCTTTAGTAATAGCTCAAATCTCACCAAACACAGGAGAACACACACTGGGGAGAAACCTTACGTGTGCACCAAGTGTGGGAAAGCTTTCAGC
CACAGCTCAAACCTCACCCTCCACTACAGAACACACTTGGTGGACCGGCCCTATGACTGTAAGTGTGGAAAAGCTTTTGGGCAGAGCTCAGACCTTCTTAAACAT
CAGAGAATGCACACAGAAGAGGCGCCATATCAGTGCAAAGATTGTGGCAAGGCTTTCAGCGGGAAAGGCAGCCTCATTCGTCACTATCGGATCCACACTGGGGAG
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>ZSCAN21|7589|protein
MMTKVLGMAPVLGPRPPQEQVGPLMVKVEEKEEKGKYLPSLEMFRQRFRQFGYHDTPGPREALSQLRVLCCEWLRPEIHTKEQILELLVLEQFLTILPQELQAWV
QEHCPESAEEAVTLLEDLERELDEPGHQVSTPPNEQKPVWEKISSSGTAKESPSSMQPQPLETSHKYESWGPLYIQESGEEQEFAQDPRKVRDCRLSTQHEESAD
EQKGSEAEGLKGDIISVIIANKPEASLERQCVNLENEKGTKPPLQEAGSKKGRESVPTKPTPGERRYICAECGKAFSNSSNLTKHRRTHTGEKPYVCTKCGKAFS
HSSNLTLHYRTHLVDRPYDCKCGKAFGQSSDLLKHQRMHTEEAPYQCKDCGKAFSGKGSLIRHYRIHTGEKPYQCNECGKSFSQHAGLSSHQRLHTGEKPYKCKE
CGKAFNHSSNFNKHHRIHTGEKPYWCHHCGKTFCSKSNLSKHQRVHTGEGEAP
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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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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