AutismKB 2.0

Evidence Details for PEX14


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Basic Information Top
Gene Symbol:PEX14 ( MGC12767,NAPP2,Pex14p,dJ734G22.2 )
Gene Full Name: peroxisomal biogenesis factor 14
Band: 1p36.22
Quick LinksEntrez ID:5195; OMIM: 601791; Uniprot ID:PEX14_HUMAN; ENSEMBL ID: ENSG00000142655; HGNC ID: 8856
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PEX14|5195|nucleotide
ATGGCGTCCTCGGAGCAGGCAGAGCAGCCGAGCCAGCCAAGCTCTACTCCAGGAAGTGAAAATGTGCTGCCTCGAGAGCCGCTGATTGCCACGGCAGTGAAGTTT
CTACAGAATTCCCGGGTCCGCCAGAGCCCACTTGCAACCAGGAGAGCATTCCTAAAGAAGAAAGGGCTGACAGATGAAGAGATTGATATGGCCTTCCAGCAGTCG
GGCACTGCTGCCGATGAGCCTTCGTCCTTGGGCCCAGCCACACAGGTGGTTCCTGTCCAGCCCCCTCACCTCATATCTCAGCCATACAGTCCCGCAGGCTCCCGA
TGGCGAGATTACGGCGCCCTGGCCATCATCATGGCAGGCATTGCATTTGGCTTTCACCAGCTCTACAAGAAATACCTGCTCCCCCTCATCCTGGGCGGCCGAGAG
GACAGAAAGCAGCTGGAGAGGATGGAGGCCGGTCTCTCTGAGCTGAGTGGCAGCGTGGCCCAGACAGTGACTCAGTTACAGACGACCCTCGCCTCCGTCCAGGAG
CTGCTGATTCAGCAGCAGCAGAAGATCCAGGAGCTTGCCCACGAGCTGGCCGCTGCCAAGGCCACCACATCCACCAACTGGATCCTGGAGTCCCAGAATATCAAC
GAACTCAAGTCCGAAATTAACTCCTTGAAAGGGCTTCTTTTAAATCGGAGGCAGTTCCCTCCATCCCCATCAGCCCCGAAGATCCCCTCCTGGCAGATCCCAGTC
AAGTCACCGTCACCCTCCAGCCCTGCGGCCGTGAACCACCACAGCAGCAGCGACATCTCACCTGTCAGCAACGAGTCCACGTCGTCCTCGCCTGGGAAGGAGGGC
CACAGCCCCGAGGGCTCCACGGTCACCTACCACTTGCTGGGCCCCCAGGAGGAAGGCGAGGGGGTGGTGGACGTCAAGGGCCAGGTGCGGATGGAGGTGCAAGGC
GAGGAGGAGAAGAGGGAGGACAAGGAGGACGAGGAGGATGAGGAGGATGATGATGTGAGCCATGTGGACGAGGAGGACTGCCTGGGGGTGCAGAGGGAGGACCGC
CGGGGCGGGGATGGGCAGATCAACGAGCAGGTGGAGAAGCTGCGGCGGCCCGAGGGCGCCAGCAACGAGAGTGAGCGGGACTAG
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>PEX14|5195|protein
MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSR
WRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNIN
ELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQG
EEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD

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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 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top