AutismKB 2.0

Annotation Detail for BMS1


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Basic Information Top
Gene Symbol:BMS1 ( BMS1L,KIAA0187 )
Gene Full Name: BMS1 homolog, ribosome assembly protein (yeast)
Band: 10q11.21
Quick LinksEntrez ID:9790; OMIM: 611448; Uniprot ID:BMS1_HUMAN; ENSEMBL ID: ENSG00000165733; HGNC ID: 23505
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 body7 / 7076198
blastocyst8 / 62319128
fetus24 / 56401242
neonate3 / 3109796
infant0 / 236200 
juvenile3 / 5555653
adult139 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor13 / 26384549
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor5 / 6895972
leukemia5 / 9584252
liver tumor7 / 9635972
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal185 / 336030755
ovarian tumor7 / 7668291
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor10 / 12494980
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites4 / 4001599
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow5 / 48801102
brain35 / 110098931
cervix3 / 4817162
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine22 / 23447293
kidney13 / 21177761
larynx0 / 241450 
liver15 / 20774372
lung13 / 33697438
lymph2 / 4427045
lymph node9 / 9161098
mammary gland10 / 15327165
mouth3 / 6705244
muscle35 / 107715324
nerve0 / 157680 
ovary9 / 10205188
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta6 / 28082521
prostate10 / 18934552
salivary gland1 / 2015549
skin14 / 21057466
spleen1 / 5395218
stomach5 / 9661951
testis17 / 33044251
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus19 / 23287881
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203082_at
Cell line Expression level Expression bar
721_B_lymphoblasts148.2
Adipocyte22.5
AdrenalCortex13
Adrenalgland9
Amygdala10.65
Appendix8.4
AtrioventricularNode8.05
BDCA4+_DentriticCells43.7
Bonemarrow10.2
BronchialEpithelialCells28.95
CD105+_Endothelial42.35
CD14+_Monocytes17.3
CD19+_BCells(neg._sel.)24.7
CD33+_Myeloid28.4
CD34+123.9
CD4+_Tcells101.75
CD56+_NKCells30.4
CD71+_EarlyErythroid11.65
CD8+_Tcells77.7
CardiacMyocytes16.35
Caudatenucleus10.25
Cerebellum7.35
CerebellumPeduncles12.95
CiliaryGanglion6.15
CingulateCortex13.5
Colorectaladenocarcinoma20.2
DorsalRootGanglion7
FetalThyroid13.95
Fetalbrain10.55
Fetalliver8.55
Fetallung12.4
GlobusPallidus8.4
Heart11.15
Hypothalamus20.15
Kidney8.55
Leukemia_chronicMyelogenousK-56249.9
Leukemia_promyelocytic-HL-6053.1
Leukemialymphoblastic(MOLT-4)44.55
Liver11.55
Lung11.75
Lymphnode22.85
Lymphoma_burkitts(Daudi)16.85
Lymphoma_burkitts(Raji)16.2
MedullaOblongata10.6
OccipitalLobe10
OlfactoryBulb9.8
Ovary7.25
Pancreas8.95
PancreaticIslet19.65
ParietalLobe10
Pituitary16.55
Placenta8.95
Pons11.1
PrefrontalCortex18.25
Prostate13.55
Salivarygland9.25
SkeletalMuscle11.2
Skin8
SmoothMuscle33.55
Spinalcord11.15
SubthalamicNucleus10.05
SuperiorCervicalGanglion8.05
TemporalLobe8.85
Testis8.4
TestisGermCell33.25
TestisIntersitial9.05
TestisLeydigCell9.6
TestisSeminiferousTubule9.85
Thalamus12.3
Thymus9
Thyroid14.85
Tongue11.25
Tonsil11.65
Trachea8
TrigeminalGanglion7.55
Uterus16.4
UterusCorpus9.9
WholeBlood12.5
Wholebrain5.4
colon10.4
pineal_day30.5
pineal_night27.72
retina12.975
small_intestine10.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P11450
  • 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
Amygdala6.86 ± 0.25
Basal Forebrain6.9 ± 0.2
Basal Part of Pons6.9 ± 0.26
Cerebellar Cortex7.07 ± 0.3
Cerebellar Nuclei6.98 ± 0.33
Claustrum6.86 ± 0.48
Epithalamus6.97 ± 0.2
Frontal Lobe6.79 ± 0.33
Globus Pallidus6.54 ± 0.2
Hypothalamus6.9 ± 0.26
Insula6.8 ± 0.23
Limbic Lobe6.84 ± 0.36
Mesencephalon6.79 ± 0.43
Myelencephalon6.81 ± 0.36
Occipital Lobe7.22 ± 0.24
Parietal Lobe6.96 ± 0.28
Pontine Tegmentum6.91 ± 0.29
Striatum6.9 ± 0.36
Subthalamus6.81 ± 0.5
Temporal Lobe6.85 ± 0.28
Thalamus6.82 ± 0.28
White Matter6.66 ± 0.01
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bms1lCBCerebellum11.65
10.83
Bms1lCTXCerebral cortex6.21
4.48
Bms1lHIPHippocampal region17.57
19.38
Bms1lHPFHippocampal formation13.92
13.9
Bms1lHYHypothalamus0.93
0.79
Bms1lLSXLateral septal complex0.53
0.76
Bms1lMBMidbrain3.61
4.15
Bms1lMYMedulla4.6
4.78
Bms1lOLFOlfactory bulb9.3
7.04
Bms1lPPons3.48
3.66
Bms1lPALPallidum1.63
1.57
Bms1lRHPRetrohippocampal region7.03
5.44
Bms1lsAMYStriatum-like amygdalar nuclei1.53
1.3
Bms1lSTRStriatum1.53
1.47
Bms1lSTRdStriatum dorsal region1.39
1.41
Bms1lSTRvStriatum ventral region2.12
1.77
Bms1lTHThalamus3.44
3.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BMS1_HUMAN_76 17 76 92 TPLEPPPIVVVVMGPPK PRIDE
PAp00063342 17 549 565 AGLSPANCQSDRVNLEK 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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