AutismKB 2.0

Evidence Details for BLMH


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Basic Information Top
Gene Symbol:BLMH ( BH,BMH )
Gene Full Name: bleomycin hydrolase
Band: 17q11.2
Quick LinksEntrez ID:642; OMIM: 602403; Uniprot ID:BLMH_HUMAN; ENSEMBL ID: ENSG00000108578; HGNC ID: 1059
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BLMH|642|nucleotide
ATGAGCAGCTCGGGACTGAATTCGGAGAAGGTAGCTGCTCTGATACAGAAACTGAATTCCGACCCCCAGTTCGTACTTGCCCAGAATGTCGGGACCACCCACGAC
CTGCTGGACATCTGTCTGAAGCGGGCCACGGTGCAGCGCGCGCAGCATGTGTTCCAGCACGCCGTGCCCCAGGAGGGCAAGCCAATCACCAACCAGAAGAGCTCA
GGGCGATGCTGGATCTTTTCTTGTCTGAATGTTATGAGGCTTCCATTCATGAAAAAGTTAAATATTGAAGAATTTGAGTTTAGCCAATCTTACCTGTTTTTTTGG
GACAAGGTTGAACGCTGTTATTTCTTCTTGAGTGCTTTTGTGGACACAGCCCAGAGAAAGGAGCCTGAGGATGGGAGGCTGGTGCAGTTTTTGCTTATGAACCCT
GCAAATGATGGTGGCCAATGGGATATGCTTGTTAATATTGTTGAAAAATATGGTGTTATCCCTAAGAAATGCTTCCCTGAATCTTATACAACAGAGGCAACCAGA
AGGATGAATGATATTCTGAATCACAAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGAC
GTCATGATGGAGGAGATATTCCGAGTGGTGTGCATCTGTTTGGGTAATCCACCAGAGACATTCACCTGGGAATATCGAGACAAAGATAAAAATTATCAGAAAATT
GGCCCCATAACACCCTTGGAGTTTTACAGGGAACATGTCAAGCCACTCTTCAATATGGAAGATAAGATTTGTTTAGTGAATGACCCTAGGCCCCAGCACAAGTAC
AACAAACTTTACACAGTGGAATACTTAAGCAATATGGTTGGAGGGAGAAAAACTCTATACAACAACCAGCCCATTGACTTCCTGAAAAAGATGGTTGCTGCCTCC
ATCAAAGATGGAGAGGCTGTGTGGTTTGGCTGTGATGTTGGAAAACACTTCAATAGCAAGCTGGGCCTCAGTGACATGAATCTCTATGACCATGAGTTAGTGTTT
GGTGTCTCCTTGAAGAACATGAATAAAGCGGAGAGGCTGACTTTTGGTGAGTCACTTATGACCCACGCCATGACCTTCACTGCTGTCTCAGAGAAGGATGATCAG
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>BLMH|642|protein
MSSSGLNSEKVAALIQKLNSDPQFVLAQNVGTTHDLLDICLKRATVQRAQHVFQHAVPQEGKPITNQKSSGRCWIFSCLNVMRLPFMKKLNIEEFEFSQSYLFFW
DKVERCYFFLSAFVDTAQRKEPEDGRLVQFLLMNPANDGGQWDMLVNIVEKYGVIPKKCFPESYTTEATRRMNDILNHKMREFCIRLRNLVHSGATKGEISATQD
VMMEEIFRVVCICLGNPPETFTWEYRDKDKNYQKIGPITPLEFYREHVKPLFNMEDKICLVNDPRPQHKYNKLYTVEYLSNMVGGRKTLYNNQPIDFLKKMVAAS
IKDGEAVWFGCDVGKHFNSKLGLSDMNLYDHELVFGVSLKNMNKAERLTFGESLMTHAMTFTAVSEKDDQDGAFTKWRVENSWGEDHGHKGYLCMTDEWFSEYVY
EVVVDRKHVPEEVLAVLEQEPIILPAWDPMGALAE
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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) 0 (0) 2 (6) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 7 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top