AutismKB 2.0

Evidence Details for PEX6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PEX6 ( PAF-2,PAF2,PXAAA1 )
Gene Full Name: peroxisomal biogenesis factor 6
Band: 6p21.1
Quick LinksEntrez ID:5190; OMIM: 601498; Uniprot ID:PEX6_HUMAN; ENSEMBL ID: ENSG00000124587; HGNC ID: 8859
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PEX6|5190|nucleotide
ATGGCGCTGGCTGTCTTGCGGGTCCTGGAGCCCTTTCCGACCGAGACACCCCCGTTGGCAGTGCTGCTGCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGC
CTGGTGCTGGCCCTGAGGCCTGCAGGGGAGAGCCCGGCAGGGCCGGCGCTGCTGGTGGCAGCCCTGGAGGGGCCGGACGCGGGCACCGAAGAGCAGGGTCCCGGG
CCGCCGCAGCTACTGGTTAGCCGCGCGCTGCTGCGGCTCCTGGCACTGGGCTCCGGGGCCTGGGTGCGGGCGCGGGCGGTGCGGCGGCCCCCGGCGCTAGGTTGG
GCACTGCTTGGCACCTCGCTGGGGCCTGGGCTCGGACCGCGAGTCGGGCCGCTGCTGGTGAGGCGCGGAGAGACCCTCCCAGTGCCCGGACCGCGGGTGCTGGAG
ACGCGGCCGGCGTTGCAAGGGCTGCTGGGCCCAGGGACTCGGCTGGCTGTGACTGAGCTCCGCGGGCGGGCCAGACTGTGTCCAGAGTCTGGGGACAGCAGTCGG
CCCCCACCCCCGCCCGTGGTGTCCTCCTTTGCGGTTTCTGGCACAGTGCGGCGACTCCAGGGAGTTCTGGGAGGGACTGGAGATTCACTAGGGGTGAGCCGGAGC
TGTCTCCGTGGCCTTGGCCTCTTCCAGGGCGAATGGGTGTGGGTGGCCCAGGCCAGAGAGTCATCGAACACTTCACAGCCGCACTTGGCTAGGGTGCAGGTCCTA
GAACCTCGCTGGGACCTCTCTGATAGACTGGGACCCGGCTCTGGACCGCTGGGAGAGCCCCTCGCTGACGGACTGGCGCTTGTCCCTGCCACTTTGGCTTTTAAT
CTTGGCTGTGACCCCCTGGAAATGGGAGAGCTCAGAATTCAGAGGTACTTGGAAGGCTCCATCGCCCCTGAAGACAAAGGAAGCTGCTCATTGCTGCCTGGGCCT
CCATTTGCCAGAGAGTTACACATCGAAATTGTGTCTTCTCCCCACTACAGCACTAATGGAAATTATGACGGTGTTCTTTACCGGCACTTTCAGATACCCAGGGTA
GTCCAGGAAGGGGATGTTCTATGTGTGCCAACAATTGGGCAAGTAGAGATCCTGGAAGGAAGTCCAGAGAAACTGCCCAGGTGGCGGGAAATGTTTTTTAAAGTG
Show »

>PEX6|5190|protein
MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAGESPAGPALLVAALEGPDAGTEEQGPGPPQLLVSRALLRLLALGSGAWVRARAVRRPPALGW
ALLGTSLGPGLGPRVGPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTELRGRARLCPESGDSSRPPPPPVVSSFAVSGTVRRLQGVLGGTGDSLGVSRS
CLRGLGLFQGEWVWVAQARESSNTSQPHLARVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPATLAFNLGCDPLEMGELRIQRYLEGSIAPEDKGSCSLLPGP
PFARELHIEIVSSPHYSTNGNYDGVLYRHFQIPRVVQEGDVLCVPTIGQVEILEGSPEKLPRWREMFFKVKKTVGEAPDGPASAYLADTTHTSLYMVGSTLSPVP
WLPSEESTLWSSLSPPGLEALVSELCAVLKPRLQPGGALLTGTSSVLLRGPPGCGKTTVVAAACSHLGLHLLKVPCSSLCAESSGAVETKLQAIFSRARRCRPAV
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top