AutismKB 2.0

Evidence Details for OXA1L


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Basic Information Top
Gene Symbol:OXA1L ( MGC133129,OXA1 )
Gene Full Name: oxidase (cytochrome c) assembly 1-like
Band: 14q11.2
Quick LinksEntrez ID:5018; OMIM: 601066; Uniprot ID:OXA1L_HUMAN; ENSEMBL ID: ENSG00000155463; HGNC ID: 8526
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OXA1L|5018|nucleotide
ATGGTAACGTGGCTTTACAGATTTTTACCCACTTCAAATATGGCCGCCAAGCTCCGTTCTCTTTTACCGCCTGATCTGCGGCTACAATTCTGGCTTCATGCCCGC
CTCCAAAAGTGCTTCCTCTCGAGGGGTTGTGGTTCTTACTGCGCAGGCGCAAAAGCAAGTCCTCTTCCGGGCAAAATGGCGATGGGACTAATGTGCGGACGCCGG
GAGCTTCTGCGCTTGCTACAGTCCGGGCGTCGGGTCCACAGCGTCGCAGGGCCCTCGCAATGGCTTGGGAAACCGCTGACCACACGGCTCCTATTCCCAGCAGCC
CCGTGCTGCTGTCGCCCACACTACCTCTTCCTTGCGGCTTCCGGCCCCCGCAGCCTCAGTACCTCTGCTATCTCTTTTGCAGAAGTCCAGGTTCAGGCCCCTCCT
GTTGTTGCTGCAACTCCCTCACCCACAGCAGTACCTGAGGTGGCTTCTGGAGAGACTGCAGATGTAGTCCAAACTGCTGCAGAGCAGAGCTTCGCTGAACTGGGG
CTGGGGTCATACACCCCAGTGGGACTGATCCAGAATTTACTGGAATTTATGCATGTTGATCTGGGCCTACCTTGGTGGGGGGCCATTGCTGCATGTACAGTCTTT
GCCCGCTGCCTGATTTTTCCTCTCATCGTGACGGGCCAGCGAGAGGCAGCCAGGATCCACAATCACTTGCCAGAGATCCAGAAGTTTTCCAGTCGAATCAGAGAG
GCCAAGTTAGCAGGAGACCATATTGAGTATTACAAGGCTTCCTCGGAGATGGCACTTTACCAGAAAAAACATGGTATTAAACTCTATAAACCTCTCATTCTCCCT
GTGACTCAGGCCCCAATCTTCATCTCCTTCTTCATTGCTTTGAGAGAGATGGCCAACCTTCCTGTGCCCAGCCTGCAGACAGGTGGCCTCTGGTGGTTCCAGGAT
CTCACGGTATCCGATCCCATCTACATATTACCACTGGCAGTCACTGCTACAATGTGGGCTGTTCTTGAGCTAGGTGCTGAGACAGGTGTGCAAAGTTCTGACCTT
CAGTGGATGAGAAATGTCATCAGAATGATGCCCCTGATAACCTTGCCCATAACCATGCATTTCCCCACGGCAGTGTTTATGTACTGGCTCTCCTCCAATTTGTTT
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>OXA1L|5018|protein
MVTWLYRFLPTSNMAAKLRSLLPPDLRLQFWLHARLQKCFLSRGCGSYCAGAKASPLPGKMAMGLMCGRRELLRLLQSGRRVHSVAGPSQWLGKPLTTRLLFPAA
PCCCRPHYLFLAASGPRSLSTSAISFAEVQVQAPPVVAATPSPTAVPEVASGETADVVQTAAEQSFAELGLGSYTPVGLIQNLLEFMHVDLGLPWWGAIAACTVF
ARCLIFPLIVTGQREAARIHNHLPEIQKFSSRIREAKLAGDHIEYYKASSEMALYQKKHGIKLYKPLILPVTQAPIFISFFIALREMANLPVPSLQTGGLWWFQD
LTVSDPIYILPLAVTATMWAVLELGAETGVQSSDLQWMRNVIRMMPLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLRIPAVRTVLKIPQRVVHDLDKLPPREG
FLESFKKGWKNAEMTRQLREREQRMRNQLELAARGPLRQTFTHNPLLQPGKDNPPNIPSSSSKPKSKYPWHDTLG
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top