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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst8 / 62319128
fetus89 / 564012157
neonate7 / 31097225
infant2 / 2362084
juvenile20 / 55556359
adult155 / 193912179
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma13 / 82823156
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor10 / 11936983
germ cell tumor51 / 263845193
glioma4 / 10688337
head and neck tumor7 / 13630251
kidney tumor4 / 6895958
leukemia13 / 95842135
liver tumor9 / 9635993
lung tumor17 / 103127164
lymphoma33 / 71755459
non-neoplasia5 / 9725051
normal318 / 336030794
ovarian tumor3 / 7668239
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer4 / 10268038
retinoblastoma13 / 46356280
skin tumor11 / 12494988
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites9 / 40015224
bladder1 / 2975733
blood22 / 123478178
bone3 / 7165541
bone marrow2 / 4880140
brain109 / 110098999
cervix3 / 4817162
connective tissue20 / 149255133
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus2 / 2020998
eye24 / 211054113
heart9 / 89626100
intestine13 / 23447255
kidney34 / 211777160
larynx2 / 2414582
liver12 / 20774357
lung33 / 33697497
lymph33 / 44270745
lymph node1 / 9161010
mammary gland8 / 15327152
mouth7 / 67052104
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta22 / 28082578
prostate11 / 18934558
salivary gland2 / 2015599
skin26 / 210574123
spleen10 / 53952185
stomach3 / 9661931
testis33 / 33044299
thymus23 / 81131283
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord3 / 13680219
uterus27 / 232878115
vascular16 / 51780308
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202179_at
Cell line Expression level Expression bar
721_B_lymphoblasts49.5
Adipocyte6.55
AdrenalCortex7
Adrenalgland5.6
Amygdala6.2
Appendix6.65
AtrioventricularNode5
BDCA4+_DentriticCells15.6
Bonemarrow6.8
BronchialEpithelialCells6.65
CD105+_Endothelial7.4
CD14+_Monocytes7.25
CD19+_BCells(neg._sel.)6.5
CD33+_Myeloid7.85
CD34+26.4
CD4+_Tcells35
CD56+_NKCells9.25
CD71+_EarlyErythroid6.05
CD8+_Tcells27.25
CardiacMyocytes15
Caudatenucleus6
Cerebellum5.55
CerebellumPeduncles8.1
CiliaryGanglion4.75
CingulateCortex6.75
Colorectaladenocarcinoma6.25
DorsalRootGanglion5.05
FetalThyroid6.35
Fetalbrain6.7
Fetalliver6.65
Fetallung7.2
GlobusPallidus4.6
Heart7.8
Hypothalamus7.15
Kidney6.1
Leukemia_chronicMyelogenousK-56235.65
Leukemia_promyelocytic-HL-6044.3
Leukemialymphoblastic(MOLT-4)36.35
Liver8.95
Lung6.95
Lymphnode5.65
Lymphoma_burkitts(Daudi)42.35
Lymphoma_burkitts(Raji)11.6
MedullaOblongata6.05
OccipitalLobe6.4
OlfactoryBulb5.2
Ovary4.3
Pancreas5.25
PancreaticIslet7.3
ParietalLobe6.85
Pituitary7.55
Placenta9.85
Pons6.2
PrefrontalCortex8.25
Prostate7
Salivarygland5.2
SkeletalMuscle8.15
Skin5.05
SmoothMuscle7.85
Spinalcord7
SubthalamicNucleus5.9
SuperiorCervicalGanglion7.4
TemporalLobe5.85
Testis5.55
TestisGermCell9
TestisIntersitial5.9
TestisLeydigCell6.85
TestisSeminiferousTubule8.75
Thalamus6.7
Thymus5.9
Thyroid7.6
Tongue6.85
Tonsil6.45
Trachea5.3
TrigeminalGanglion6.5
Uterus5.45
UterusCorpus7.35
WholeBlood7.3
Wholebrain5.1
colon5.9
pineal_day14.52
pineal_night13.84
retina8.025
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_113_PI416408490
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.72 ± 0.53
Basal Forebrain4.92 ± 0.22
Basal Part of Pons5.25 ± 0.33
Cerebellar Cortex5.31 ± 0.26
Cerebellar Nuclei4.91 ± 0.84
Claustrum4.3 ± 0.74
Epithalamus5.1 ± 0.37
Frontal Lobe4.88 ± 0.47
Globus Pallidus4.82 ± 0.58
Hypothalamus5.1 ± 0.91
Insula4.9 ± 0.4
Limbic Lobe4.79 ± 0.46
Mesencephalon4.82 ± 0.51
Myelencephalon4.88 ± 0.52
Occipital Lobe5.04 ± 0.44
Parietal Lobe4.95 ± 0.44
Pontine Tegmentum4.82 ± 0.43
Striatum4.73 ± 0.36
Subthalamus4.7 ± 0
Temporal Lobe4.87 ± 0.44
Thalamus4.92 ± 0.43
White Matter5.54 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BlmhCBCerebellum28.6
26.44
BlmhCTXCerebral cortex20.64
14.49
BlmhHIPHippocampal region40.78
25.15
BlmhHPFHippocampal formation39.69
25.96
BlmhHYHypothalamus26.65
17.21
BlmhLSXLateral septal complex8.73
4.75
BlmhMBMidbrain28.58
23.16
BlmhMYMedulla50.82
51.68
BlmhOLFOlfactory bulb45.45
27.59
BlmhPPons44.03
43.85
BlmhPALPallidum13.96
12.45
BlmhRHPRetrohippocampal region38.33
26.64
BlmhsAMYStriatum-like amygdalar nuclei17.27
10.63
BlmhSTRStriatum12.1
7.69
BlmhSTRdStriatum dorsal region8.37
5.51
BlmhSTRvStriatum ventral region24.63
14.45
BlmhTHThalamus26.26
19.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BLMH_HUMAN_17 25 17 41 LNSDPQFVLAQNVGTTHDLLDICLK PRIDE
BLMH_HUMAN_244 11 244 254 IGPITPLEFYR PRIDE
BLMH_HUMAN_256 12 256 267 EHVKPLFNMEDK PRIDE
BLMH_HUMAN_283 14 283 296 LYTVEYLSNMVGGR PRIDE
BLMH_HUMAN_48 20 48 67 AQHVFQHAVPQEGKPITNQK PRIDE
BLMH_HUMAN_49 24 49 72 AQHVFQHAVPQEGKPITNQKSSGR PRIDE
PAp00000657 20 49 68 AQHVFQHAVPQEGKPITNQK Peptide Atlas

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


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