AutismKB 2.0

Evidence Details for WDR27


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Basic Information Top
Gene Symbol:WDR27 ( MGC43690 )
Gene Full Name: WD repeat domain 27
Band: 6q27
Quick LinksEntrez ID:253769; OMIM: NA; Uniprot ID:WDR27_HUMAN; ENSEMBL ID: ENSG00000184465; HGNC ID: 21248
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDR27|253769|nucleotide
ATGGAAAATCCCCAAGACATTTTCTCAAGTAATGGTGGCTGTCTAAGTGATATAGTTATAGAAAAATACCTGGTTGAATCCAAGGAGTCTGTGTCTCATGTTCAG
CTTGCTTGCAGCATGCAGGACTGTGCTTTCCCTTTGGATGGAACTGAACTTTGTATATGGAACACTAAGGATCCTTCTCATCAGCTTCTAATCCTACGAGGACAC
CATCAGCCAATTACTGCTATGGCTTTTGGAAATAAAGTGAACCCACTTCTAATCTGCTCAGCATCACTGGATTATGTTATAATGTGGAACCTGGATGAATGTAGA
GAGAAAGTACTTCAAGCATATCCTCTTCTCAGTTTATTCATTGATGCAGAAAGCAGGCAGCTGGTCACCGGGTGTGCTGACGGCCAGCTTTGGATCTTCAGTTTG
ATGGATGGACACCATTATCGTCGTGTGGCACGGGTTGACCTAAGGAAGAAGACAGAGACTTTCTCCACAAGAAGGGTTAAGTCTGGGCTGTGCAGCCAGCCAGAA
GAAAGCCAGCTTCCCTCTACAAGTGCTCTGGGAAAAGGAGAGCAGGTTGAAGTAACATTTCCTGTACTGAGACTTGCACCCTGTGATCTCTCACTCATCCCAAAT
TCTGCATGTGGATGTCTTTCTTCTGAGAACACCCGATGTGTGTGGATCGGAAGCTCAGTGGGCTTATTCGTATTTAACCTGGCAAACCTGGAAGTGGAAGCTGCT
TTGTATTACAAGGATTTCCAGAGCCTCAGCATCCTGCTGGCCGGATCGTGTGCCCTGAGGAACCGCACTGCGGATCAAAAGGTGCTGTGCTTGCTGGCCTCCCTC
TTTGGCGGGAAGATTGCCGTGTTGGAGATCAACCCGGCCGCGCTAGTCAGGGCTCAGCAGTGCCCCAGCATGGGGCAGAGCCTCTCGGTGCCAGCCAGCTCCTGT
GTCCTACCGACCTCTCCACTGTATCTGGGAATTGCCAAGGAGAAGAGTACCAAGGCTGCTAGTGAACAGCGACGTGCTGCACGGAACGTCATGAAGGACCAACGC
CTGGTTTTCCATAGTAAAGTTAGGTCATCTGGTTATGCGTCAGCACCACATGTAACTATGTTTTCACCAAAGACCAACATCAAGAGTGAGGGGAAAGGATCTTCA
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>WDR27|253769|protein
MENPQDIFSSNGGCLSDIVIEKYLVESKESVSHVQLACSMQDCAFPLDGTELCIWNTKDPSHQLLILRGHHQPITAMAFGNKVNPLLICSASLDYVIMWNLDECR
EKVLQAYPLLSLFIDAESRQLVTGCADGQLWIFSLMDGHHYRRVARVDLRKKTETFSTRRVKSGLCSQPEESQLPSTSALGKGEQVEVTFPVLRLAPCDLSLIPN
SACGCLSSENTRCVWIGSSVGLFVFNLANLEVEAALYYKDFQSLSILLAGSCALRNRTADQKVLCLLASLFGGKIAVLEINPAALVRAQQCPSMGQSLSVPASSC
VLPTSPLYLGIAKEKSTKAASEQRRAARNVMKDQRLVFHSKVRSSGYASAPHVTMFSPKTNIKSEGKGSSRSRSSCAREAYPVECAVPTKPGPQVAAAPTCTRVC
CIQYSGDGQWLACGLANHLLLVFDASLTGTPAVFSGHDGAVNAVCWSQDRRWLLSAARDGTLRMWSARGAELALLLGKDMFSKPIQSAQFYYIDAFILLSSGPEF
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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) 1 (1) 0 (0) 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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
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
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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  (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