AutismKB 2.0

Evidence Details for PEX5


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Basic Information Top
Gene Symbol:PEX5 ( FLJ50634,FLJ50721,FLJ51948,PTS1-BP,PTS1R,PXR1 )
Gene Full Name: peroxisomal biogenesis factor 5
Band: 12p13.31
Quick LinksEntrez ID:5830; OMIM: 600414; Uniprot ID:PEX5_HUMAN; ENSEMBL ID: ENSG00000139197; HGNC ID: 9719
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PEX5|5830|nucleotide
ATGGCAATGCGGGAGCTGGTGGAGGCCGAATGCGGGGGTGCCAACCCGCTCATGAAGCTCGCCGGGCACTTCACCCAGGACAAGGCCCTTCGGCAGGAGGGATTG
AGGCCTGGCCCCTGGCCCCCCGGAGCCCCGGCCTCTGAGGCAGCCTCCAAGCCTTTGGGAGTAGCTTCTGAAGATGAGTTGGTGGCTGAATTCCTGCAGGACCAG
AATGCACCCCTTGTGTCCCGTGCCCCTCAGACCTTCAAGATGGATGACCTCCTGGCTGAGATGCAGCAGATTGAGCAGTCAAACTTCCGCCAGGCTCCCCAGAGA
GCCCCTGGTGTGGCAGACTTGGCCTTGTCTGAGAACTGGGCCCAGGAGTTTCTTGCAGCTGGAGATGCTGTGGATGTAACTCAGGATTATAATGAGACTGACTGG
TCCCAAGAATTCATCTCTGAAGTTACAGACCCCTTGTCTGTGTCCCCTGCCCGCTGGGCTGAGGAATATTTGGAGCAATCAGAGGAGAAGCTGTGGCTGGGAGAA
CCTGAGGGAACAGCCACCGATCGCTGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGACTTTGTGGCCAAAGTGGATGACCCCAAATTG
GCTAATTCTGAGTTCCTGAAATTCGTGCGGCAGATTGGCGAAGGGCAGGTGTCCCTGGAGTCCGGTGCAGGGTCGGGCCGAGCTCAGGCAGAACAGTGGGCAGCA
GAGTTTATACAGCAGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCT
ATAGAGTTGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTTCTGACTATGATGACCTTACGTCAGCTACCTATGATAAGGGG
TACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTT
GAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGCTTGGCAGTATCTGGGTACCACCCAGGCAGAGAATGAACAAGAACTATTAGCCATCAGTGCATTGCGG
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>PEX5|5830|protein
MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQR
APGVADLALSENWAQEFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKL
ANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIELQAELEEMAKRDAEAHPWLSDYDDLTSATYDKG
YQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRD
WLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLA
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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 (0) 0 (0) 0 (1) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top