AutismKB 2.0

Evidence Details for BBOX1


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Basic Information Top
Gene Symbol:BBOX1 ( BBH,BBOX,G-BBH,gamma-BBH )
Gene Full Name: butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Band: 11p14.2
Quick LinksEntrez ID:8424; OMIM: 603312; Uniprot ID:BODG_HUMAN; ENSEMBL ID: ENSG00000129151; HGNC ID: 964
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BBOX1|8424|nucleotide
ATGGCTTGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTCTGGTATGATGAGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGA
GACAACTGTCCGTGCTCTGATTGCTACCTGGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTGAACATTGGAATTAAAGGCTTGATATTTGAC
AGAAAAAAGGTGTACATCACATGGCCCGATGAGCATTACAGTGAATTCCAGGCTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCCAGAGCAAAGCTCCAA
AGAGAATTGTTTTTTCCAGAATGCCAATACTGGGGCTCAGAGCTCCAGCTACCCACTTTGGATTTTGAAGATGTTTTAAGATATGATGAACACGCATACAAGTGG
CTCTCCACCCTCAAGAAAGTAGGCATAGTAAGACTCACCGGAGCATCTGACAAACCAGGAGAAGTTTCAAAACTTGGGAAAAGGATGGGTTTCCTCTATCTCACA
TTTTATGGACATACTTGGCAAGTGCAAGACAAAATCGATGCAAACAATGTGGCTTACACAACTGGGAAGCTAAGCTTTCACACTGATTATCCAGCCCTCCATCAT
CCACCTGGGGTTCAGCTTCTTCACTGCATAAAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTTTAATGTGTGCCAAAAACTAAAGAAAAATAAT
CCTCAGGCATTCCAGATTTTGTCCTCTACCTTTGTGGACTTTACAGACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTATAGAGTTA
GATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAATATTTGATGTGCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAG
GAGTTTGTTGACCTCATGAACAGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTTGATAACTGGCGCTTACTTCATGGCCGACGT
AGCTATGAAGCAGGAACTGAGATATCCCGCCATCTAGAAGGAGCTTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGGCAGAGGGTGGAGAAT
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>BBOX1|8424|protein
MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCYLDSAKARKLLVEALDVNIGIKGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARAKLQ
RELFFPECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQDKIDANNVAYTTGKLSFHTDYPALHH
PPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSKHKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALK
EFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEGAYADWDVVMSRLRILRQRVENGN

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Shinawi, 2011 - FISH, aCGHASD - - - - 1 - 1
Linkage Studies Top