Evidence Details for PEX26


Gene Symbol: | PEX26 ( FLJ20695,PEX26M1T,Pex26pM1T ) |
---|---|
Gene Full Name: | peroxisomal biogenesis factor 26 |
Band: | 22q11.21 |
Quick Links | Entrez ID:55670; OMIM: 608666; Uniprot ID:PEX26_HUMAN; ENSEMBL ID: ENSG00000215193; HGNC ID: 22965 |
Relate to Another Database: | SFARIGene; denovo-db |


>PEX26|55670|nucleotide
ATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTG
GACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTG
GCAGAGGAACCCGCGGGCACCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGG
GTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTGTGCTGGATGTG
GTGGGTGCCTGGCTCCAAGACCCAGCCAATCAAAACCTTCCAGAATATGGAGCCTTGGCAGAATTTCACGTGCAGCGGGTGCTGCTGCCTCTGGGCTGCTTATCG
GAGGCTGAGGAGCTAGTGGTGGGCTCTGCAGCCTTTGGTGAGGAGCGGCGACTGGATGTACTTCAGGCCATTCACACAGCGAGGCAGCAGCAGAAACAGGAACAC
TCAGGCTCTGAGGAGGCCCAGAAGCCAAACCTGGAAGGCTCTGTCTCCCACAAGTTCCTGTCACTACCGATGTTGGTTCGCCAGCTTTGGGACTCTGCGGTGAGC
CACTTCTTTTCTCTGCCCTTCAAAAAGAGTCTCCTGGCTGCCTTGATCCTCTGTCTCCTGGTGGTGAGATTTGATCCAGCTTCCCCTTCCTCCCTGCACTTCCTC
TACAAGCTGGCCCAGCTCTTCCGCTGGATCCGGAAGGCTGCATTTTCTCGCCTCTACCAGCTCCGCATCCGTGACTGA
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ATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTG
GACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTG
GCAGAGGAACCCGCGGGCACCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGG
GTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTGTGCTGGATGTG
GTGGGTGCCTGGCTCCAAGACCCAGCCAATCAAAACCTTCCAGAATATGGAGCCTTGGCAGAATTTCACGTGCAGCGGGTGCTGCTGCCTCTGGGCTGCTTATCG
GAGGCTGAGGAGCTAGTGGTGGGCTCTGCAGCCTTTGGTGAGGAGCGGCGACTGGATGTACTTCAGGCCATTCACACAGCGAGGCAGCAGCAGAAACAGGAACAC
TCAGGCTCTGAGGAGGCCCAGAAGCCAAACCTGGAAGGCTCTGTCTCCCACAAGTTCCTGTCACTACCGATGTTGGTTCGCCAGCTTTGGGACTCTGCGGTGAGC
CACTTCTTTTCTCTGCCCTTCAAAAAGAGTCTCCTGGCTGCCTTGATCCTCTGTCTCCTGGTGGTGAGATTTGATCCAGCTTCCCCTTCCTCCCTGCACTTCCTC
TACAAGCTGGCCCAGCTCTTCCGCTGGATCCGGAAGGCTGCATTTTCTCGCCTCTACCAGCTCCGCATCCGTGACTGA
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>PEX26|55670|protein
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLEVKCSLCVVGIQALAEMDRWQEVLSW
VLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALAEFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEH
SGSEEAQKPNLEGSVSHKFLSLPMLVRQLWDSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD
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MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLEVKCSLCVVGIQALAEMDRWQEVLSW
VLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALAEFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEH
SGSEEAQKPNLEGSVSHKFLSLPMLVRQLWDSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD
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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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Roubertie, 2001 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Niklasson, 2002 | Sweden | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Ramelli, 2008 | - | FISH | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bailey, 1998 | - | microsatellite-based genomic screen | ![]() | ![]() | PDD | 99 | - | 99 | - | - | - | - |












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