AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
391N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
98Phosphoserine(ATM)HMM predict
242Phosphotyrosine(INSR)HMM predict
242Phosphotyrosine(Syk)HMM predict
249Phosphothreonine(MAPK)HMM predict
280Phosphotyrosine(Syk)HMM predict
284Phosphotyrosine(INSR)HMM predict
407Phosphotyrosine(INSR)HMM predict
407Phosphotyrosine(Jak)HMM predict
420Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000386
  • Location:chr17 25599348-25643199
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 25650729 25650767 38 7549
H3K4me3 colorectalcancer 25643551 25643938 387 545
Oct1 HelaGSE14283 25650715 25650770 55 7543
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 25596223 25596263 40 3106
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 25641327 25641664 337 0
ER E2-MCF7GSE14664 25637049 25637084 35 0
H3K4me2 HCT116GSE10453 25641989 25642408 419 0
H3K4me3 colorectalcancer 25642202 25642574 372 0
H3ac HepG2E 25642061 25642574 513 0
Oct1 H2O2-HelaGSE14283 25640526 25640555 29 0
Oct1 HelaGSE14283 25604394 25604432 38 0
Oct1 HelaGSE14283 25627306 25627333 27 0
Oct1 HelaGSE14283 25637047 25637080 33 0
P300 T30-glioblastomaGSE21026 25642077 25644032 1955 0
PHF8 HeLaGSE20725 25642157 25643834 1677 0
RARA MCF7GSE15244 25604164 25604974 810 0
RARG MCF7GSE15244 25604164 25605030 866 0
RNAII Tamoxifen-MCF7GSE14664 25604391 25604430 39 0
p63 keratinocytesGSE17611 25641825 25642995 1170 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018