AutismKB 2.0

Annotation Detail for BLM


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Basic Information Top
Gene Symbol:BLM ( BS,MGC126616,MGC131618,MGC131620,RECQ2,RECQL2,RECQL3 )
Gene Full Name: Bloom syndrome, RecQ helicase-like
Band: 15q26.1
Quick LinksEntrez ID:641; OMIM: 604610; Uniprot ID:BLM_HUMAN; ENSEMBL ID: ENSG00000197299; HGNC ID: 1058
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 body4 / 7076156
blastocyst3 / 6231948
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult34 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal59 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor2 / 12494916
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain19 / 110098917
cervix2 / 4817141
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye5 / 21105423
heart3 / 8962633
intestine12 / 23447251
kidney3 / 21177714
larynx1 / 2414541
liver3 / 20774314
lung2 / 3369745
lymph0 / 442700 
lymph node13 / 91610141
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland1 / 2015549
skin2 / 2105749
spleen1 / 5395218
stomach0 / 966190 
testis9 / 33044227
thymus2 / 8113124
thyroid0 / 474730 
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205733_at
Cell line Expression level Expression bar
721_B_lymphoblasts110.1
Adipocyte4.6
AdrenalCortex4.7
Adrenalgland3.9
Amygdala4.85
Appendix4.6
AtrioventricularNode3.5
BDCA4+_DentriticCells5.8
Bonemarrow4.5
BronchialEpithelialCells4.6
CD105+_Endothelial87.9
CD14+_Monocytes5
CD19+_BCells(neg._sel.)8.85
CD33+_Myeloid5.75
CD34+64.15
CD4+_Tcells5.75
CD56+_NKCells22.75
CD71+_EarlyErythroid12.85
CD8+_Tcells4.65
CardiacMyocytes6.05
Caudatenucleus4.15
Cerebellum3.8
CerebellumPeduncles5.2
CiliaryGanglion3.2
CingulateCortex4.75
Colorectaladenocarcinoma4.85
DorsalRootGanglion4.2
FetalThyroid4.5
Fetalbrain4.6
Fetalliver4
Fetallung3.9
GlobusPallidus3.6
Heart5.75
Hypothalamus5.1
Kidney3.75
Leukemia_chronicMyelogenousK-56229.25
Leukemia_promyelocytic-HL-609.85
Leukemialymphoblastic(MOLT-4)55.2
Liver6
Lung5.1
Lymphnode4.3
Lymphoma_burkitts(Daudi)58.75
Lymphoma_burkitts(Raji)11.15
MedullaOblongata4.3
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.05
Pancreas3.7
PancreaticIslet4.9
ParietalLobe4.8
Pituitary6.35
Placenta4.85
Pons4.4
PrefrontalCortex5.55
Prostate5.5
Salivarygland23.85
SkeletalMuscle23.5
Skin3.55
SmoothMuscle13.15
Spinalcord4.95
SubthalamicNucleus6.4
SuperiorCervicalGanglion5.1
TemporalLobe4.2
Testis4.45
TestisGermCell4.15
TestisIntersitial3.9
TestisLeydigCell5.05
TestisSeminiferousTubule7.05
Thalamus4.7
Thymus4.8
Thyroid5.85
Tongue5.25
Tonsil15.75
Trachea3.9
TrigeminalGanglion4.5
Uterus3.75
UterusCorpus4.25
WholeBlood5.2
Wholebrain4
colon4.65
pineal_day5.84
pineal_night5.42
retina5.45
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P88630
  • 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
Amygdala5.68 ± 0.31
Basal Forebrain5.99 ± 0.34
Basal Part of Pons5.21 ± 0.2
Cerebellar Cortex5.9 ± 0.3
Cerebellar Nuclei5.53 ± 0.49
Claustrum4.75 ± 0.75
Epithalamus4.97 ± 0.43
Frontal Lobe5.36 ± 0.51
Globus Pallidus6.44 ± 0.61
Hypothalamus5.38 ± 0.51
Insula5.71 ± 0.46
Limbic Lobe5.33 ± 0.58
Mesencephalon5.65 ± 0.51
Myelencephalon5.41 ± 0.52
Occipital Lobe5.09 ± 0.48
Parietal Lobe5.47 ± 0.43
Pontine Tegmentum5.61 ± 0.54
Striatum5.31 ± 0.52
Subthalamus5.57 ± 0.5
Temporal Lobe5.6 ± 0.34
Thalamus5.66 ± 0.45
White Matter5.09 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BlmCBCerebellum2.58
3.05
BlmCTXCerebral cortex5.01
3.26
BlmHIPHippocampal region2.05
1.97
BlmHPFHippocampal formation2.26
1.97
BlmHYHypothalamus0.64
0.47
BlmLSXLateral septal complex0.56
0.34
BlmMBMidbrain1.03
1.06
BlmMYMedulla2.16
2.41
BlmOLFOlfactory bulb6.68
5.47
BlmPPons1.53
1.74
BlmPALPallidum2.19
1.77
BlmRHPRetrohippocampal region2.74
2.06
BlmsAMYStriatum-like amygdalar nuclei0.71
0.76
BlmSTRStriatum1.66
1.1
BlmSTRdStriatum dorsal region2.11
1.37
BlmSTRvStriatum ventral region1.32
0.86
BlmTHThalamus1.94
1.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BLM_HUMAN_2 14 2 15 AAVPQNNLQEQLER PRIDE
BLM_HUMAN_410 20 410 429 LLTEVDFNKSDASLLGSLWR PRIDE
PAp00078209 23 1373 1395 SSSIIGSSSASHTSQATSGANSK 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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