AutismKB 2.0

Evidence Details for CWF19L2


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Basic Information Top
Gene Symbol:CWF19L2 ( FLJ32343 )
Gene Full Name: CWF19-like 2, cell cycle control (S. pombe)
Band: 11q22.3
Quick LinksEntrez ID:143884; OMIM: NA; Uniprot ID:C19L2_HUMAN; ENSEMBL ID: ENSG00000152404; HGNC ID: 26508
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CWF19L2|143884|nucleotide
ATGGCAACAAGTATGGCGGCTGCTAGTGGTAGATTTGAAAGTGCGAAGAGTATCGAAGAGCGGAAAGAACAGACCCGGAATGCCAGGGCCGAGGTGTTGCGCCAG
GCTAAAGCCAATTTTGAAAAAGAAGAAAGGCGTAAAGAACTTAAGCGACTTCGGGGTGAGGATACATGGATGCTACCTGATGTGAATGAGAGAATTGAACAGTTC
TCACAGGAACACTCTGTGAAGAAAAAGAAGAAAAAAGACAAGCATTCAAAAAAAGCAAAGAAAGAAAAGAAAAAAAAGAGCAAGAAACAGAAATATGAAAAAAAC
AATGAGTCATCTGATAGCTCATCAAGCTCTGAAGATGAGTGGGTTGAGGCTGTTCCATCCCAGACTCCTGACAAGGAAAAAGCCTGGAAAGTGAAAGATGAAAAG
TCAGGAAAAGATGACACCCAAATTATCAAGAGGGATGAGTGGATGACTGTTGATTTTATGTCTGTTAAAACTGTGTCATCATCATCACTCAAAGCTGAAAAGGAA
ACTATGAGGAAAATAGAGCAAGAGAAAAACCAAGCGCTTGAACAGTCCAAACTGATGGAAAGAGAATTGAATCCGTACTGGAAGGATGGTGGGACAGGTCTTCCA
CCTGAAGACTGTAGTGTGTCATCGATTACTAAAGTTTCAGTGGTAGAAGATGGTGGATTAAGCTGGCTAAGGAAATCTTATCTAAGAATGAAGGAACAAGCTGAG
AAACAAAGTAGAAACTTTGAGGACATTGTAGCCGAAAGATATGGGTCAATGGAAATATTTCAGTCAAAATTAGAAGATGCTGAAAAAGCTGCATCCACGAAAGAA
GATTATAGACGGGAACGGTGGAGGAAACCCACATATTCAGATAAAGCACAAAATTGTCAAGAAAGTAGAGAATCAGACTTAGTAAAATATGGTAACAGTTCAAGG
GATAGATATGCTACAACAGATACTGCAAAAAATAGCAATAATGAAAAATTTATTGGTGATGAAAAAGATAAGAGACCTGGGTCTTTAGAAACGTGTAGAAGAGAA
TCTAACCCAAGGCAAAATCAAGAGTTTTCTTTTGGCAATTTGAGAGCTAAATTCTTGAGACCCTCTGATGATGAAGAACTGTCATTTCACAGCAAGGGCAGAAAA
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>CWF19L2|143884|protein
MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKKKKDKHSKKAKKEKKKKSKKQKYEKN
NESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLP
PEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSR
DRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWS
RSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKF
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
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