AutismKB 2.0

Evidence Details for BPHL


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Basic Information Top
Gene Symbol:BPHL ( BPH-RP,MCNAA,MGC125930,MGC41865,VACVASE )
Gene Full Name: biphenyl hydrolase-like (serine hydrolase)
Band: 6p25.2
Quick LinksEntrez ID:670; OMIM: 603156; Uniprot ID:BPHL_HUMAN; ENSEMBL ID: ENSG00000137274; HGNC ID: 1094
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BPHL|670|nucleotide
ATGGTGGCTGTGCTGGGCGGCCGGGGCGTGTTGCGCCTGCGGCTGCTTCTCTCAGCGCTGAAGCCCGGGATCCACGTCCCACGGGCCGGACCCGCGGCCGCGTTC
GGCACCTCGGTAACCTCTGCCAAAGTGGCTGTGAATGGCGTTCAGCTGCATTACCAGCAGACTGGAGAGGGAGATCACGCAGTCCTGCTACTTCCTGGGATGTTA
GGAAGTGGAGAGACTGATTTTGGACCTCAGCTCAAGAACCTCAATAAGAAGCTCTTCACGGTGGTCGCCTGGGATCCTCGAGGCTATGGACATTCCAGGCCCCCA
GATCGCGATTTCCCAGCAGACTTTTTTGAAAGGGATGCAAAAGATGCTGTTGATTTGATGAAGGCGCTGAAGTTTAAGAAGGTTTCTCTGCTGGGGTGGAGTGAT
GGGGGCATAACCGCACTCATTGCTGCTGCAAAATATCCATCTTACATCCACAAGATGGTGATCTGGGGCGCCAACGCCTACGTCACTGACGAAGACAGCATGATA
TATGAGGGCATCCGAGATGTTTCCAAATGGAGTGAGAGAACAAGAAAGCCTCTAGAAGCCCTCTATGGGTATGACTACTTTGCCAGAACCTGTGAAAAGTGGGTG
GATGGCATAAGACAGTTTAAACATCTCCCAGATGGTAACATCTGCCGGCACCTGCTGCCCCGGGTCCAGTGCCCCGCCTTGATTGTGCACGGTGAGAAGGATCCT
CTGGTCCCACGGTTTCATGCCGACTTCATTCATAAGCACGTGAAAGGCTCACGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGAT
GAATTCAACAAGTTAGCAGAAGACTTCCTACAATGA


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>BPHL|670|protein
MVAVLGGRGVLRLRLLLSALKPGIHVPRAGPAAAFGTSVTSAKVAVNGVQLHYQQTGEGDHAVLLLPGMLGSGETDFGPQLKNLNKKLFTVVAWDPRGYGHSRPP
DRDFPADFFERDAKDAVDLMKALKFKKVSLLGWSDGGITALIAAAKYPSYIHKMVIWGANAYVTDEDSMIYEGIRDVSKWSERTRKPLEALYGYDYFARTCEKWV
DGIRQFKHLPDGNICRHLLPRVQCPALIVHGEKDPLVPRFHADFIHKHVKGSRLHLMPEGKHNLHLRFADEFNKLAEDFLQ


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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