AutismKB 2.0

Evidence Details for PEX26


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Basic Information Top
Gene Symbol:PEX26 ( FLJ20695,PEX26M1T,Pex26pM1T )
Gene Full Name: peroxisomal biogenesis factor 26
Band: 22q11.21
Quick LinksEntrez ID:55670; OMIM: 608666; Uniprot ID:PEX26_HUMAN; ENSEMBL ID: ENSG00000215193; HGNC ID: 22965
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PEX26|55670|nucleotide
ATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTG
GACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTG
GCAGAGGAACCCGCGGGCACCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGG
GTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTGTGCTGGATGTG
GTGGGTGCCTGGCTCCAAGACCCAGCCAATCAAAACCTTCCAGAATATGGAGCCTTGGCAGAATTTCACGTGCAGCGGGTGCTGCTGCCTCTGGGCTGCTTATCG
GAGGCTGAGGAGCTAGTGGTGGGCTCTGCAGCCTTTGGTGAGGAGCGGCGACTGGATGTACTTCAGGCCATTCACACAGCGAGGCAGCAGCAGAAACAGGAACAC
TCAGGCTCTGAGGAGGCCCAGAAGCCAAACCTGGAAGGCTCTGTCTCCCACAAGTTCCTGTCACTACCGATGTTGGTTCGCCAGCTTTGGGACTCTGCGGTGAGC
CACTTCTTTTCTCTGCCCTTCAAAAAGAGTCTCCTGGCTGCCTTGATCCTCTGTCTCCTGGTGGTGAGATTTGATCCAGCTTCCCCTTCCTCCCTGCACTTCCTC
TACAAGCTGGCCCAGCTCTTCCGCTGGATCCGGAAGGCTGCATTTTCTCGCCTCTACCAGCTCCGCATCCGTGACTGA


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>PEX26|55670|protein
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLEVKCSLCVVGIQALAEMDRWQEVLSW
VLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALAEFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEH
SGSEEAQKPNLEGSVSHKFLSLPMLVRQLWDSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD


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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 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Ramelli, 2008 - FISHASD - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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