AutismKB 2.0

Evidence Details for PEX7


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Basic Information Top
Gene Symbol:PEX7 ( PTS2R,RCDP1,RD )
Gene Full Name: peroxisomal biogenesis factor 7
Band: 6q23.3
Quick LinksEntrez ID:5191; OMIM: 601757; Uniprot ID:PEX7_HUMAN; ENSEMBL ID: ENSG00000112357; HGNC ID: 8860
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PEX7|5191|nucleotide
ATGAGTGCGGTGTGCGGTGGAGCGGCGCGGATGCTGCGGACGCCGGGACGCCACGGCTACGCCGCCGAGTTCTCCCCGTACCTGCCGGGCCGCCTGGCCTGCGCC
ACCGCGCAGCACTACGGCATCGCGGGCTGTGGAACCCTACTAATATTGGATCCAGATGAAGCTGGGCTAAGGCTTTTTAGAAGCTTTGACTGGAATGATGGTTTG
TTTGATGTGACTTGGAGTGAGAACAACGAACATGTCCTCATCACCTGTAGTGGCGATGGCTCGCTGCAGCTCTGGGACACTGCCAAAGCTGCAGGGCCACTGCAA
GTCTATAAAGAACACGCTCAGGAGGTGTATAGTGTTGATTGGAGCCAAACCAGAGGTGAACAGCTTGTGGTGTCTGGCTCATGGGATCAAACTGTCAAATTGTGG
GATCCAACTGTTGGAAAGTCTCTGTGCACCTTTAGAGGCCATGAAAGTATTATTTATAGCACAATCTGGTCTCCCCACATCCCTGGTTGTTTTGCTTCAGCCTCA
GGTGATCAGACTCTGAGAATATGGGATGTGAAGGCAGCAGGAGTAAGAATCGTGATTCCTGCACATCAGGCAGAAATCTTGAGTTGTGACTGGTGTAAATACAAT
GAGAATTTGCTGGTGACCGGGGCGGTTGACTGTAGTTTGAGAGGCTGGGACTTAAGGAATGTACGACAACCAGTGTTTGAACTTCTTGGTCATACCTATGCTATT
AGGAGGGTGAAATTTTCACCATTTCATGCTTCTGTGCTGGCCTCTTGCTCGTATGATTTTACTGTAAGATTCTGGAACTTTTCAAAGCCTGACTCTCTTCTTGAA
ACAGTGGAGCATCATACAGAGTTTACTTGTGGTTTAGACTTCAGTCTTCAGAGCCCCACTCAGGTGGCTGACTGTTCTTGGGATGAAACAATAAAGATCTATGAC
CCTGCTTGTCTTACTATTCCTGCTTGA

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>PEX7|5191|protein
MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQ
VYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYN
ENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYD
PACLTIPA

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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top