AutismKB 2.0

Annotation Detail for RBMS1


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Basic Information Top
Gene Symbol:RBMS1 ( C2orf12,DKFZp564H0764,HCC-4,MGC15146,MGC3331,MGC70597,MGC97258,MGC97270,MGC97282,MGC99543,MSSP,MSSP-1,MSSP-2,MSSP-3,SCR2,YC1 )
Gene Full Name: RNA binding motif, single stranded interacting protein 1
Band: 2q24.2
Quick LinksEntrez ID:5937; OMIM: 602310; Uniprot ID:RBMS1_HUMAN; ENSEMBL ID: ENSG00000153250; HGNC ID: 9907
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 body8 / 70761113
blastocyst7 / 62319112
fetus54 / 56401295
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult248 / 1939121127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma6 / 17475343
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma14 / 82823169
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor51 / 119369427
germ cell tumor21 / 26384579
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia12 / 95842125
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal289 / 336030786
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor17 / 124949136
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland1 / 3319730
ascites0 / 400150 
bladder5 / 29757168
blood16 / 123478129
bone8 / 71655111
bone marrow2 / 4880140
brain30 / 110098927
cervix5 / 48171103
connective tissue13 / 14925587
ear1 / 1621261
embryonic tissue25 / 215722115
esophagus1 / 2020949
eye7 / 21105433
heart9 / 89626100
intestine7 / 23447229
kidney22 / 211777103
larynx2 / 2414582
liver16 / 20774377
lung46 / 336974136
lymph0 / 442700 
lymph node11 / 91610120
mammary gland8 / 15327152
mouth5 / 6705274
muscle9 / 10771583
nerve0 / 157680 
ovary7 / 10205168
pancreas13 / 21481260
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta48 / 280825170
prostate8 / 18934542
salivary gland1 / 2015549
skin37 / 210574175
spleen4 / 5395274
stomach47 / 96619486
testis17 / 33044251
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus20 / 23287885
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215127_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts15.95
Adipocyte61.8
AdrenalCortex75.15
Adrenalgland42.55
Amygdala27.25
Appendix92.8
AtrioventricularNode50.85
BDCA4+_DentriticCells119.5
Bonemarrow74.45
BronchialEpithelialCells84.15
CD105+_Endothelial190.8
CD14+_Monocytes126.6
CD19+_BCells(neg._sel.)43.45
CD33+_Myeloid541.85
CD34+89.55
CD4+_Tcells329.3
CD56+_NKCells308.7
CD71+_EarlyErythroid87.5
CD8+_Tcells309.05
CardiacMyocytes93.4
Caudatenucleus26.4
Cerebellum23.65
CerebellumPeduncles42.2
CiliaryGanglion56.15
CingulateCortex45.15
Colorectaladenocarcinoma56.8
DorsalRootGanglion40.3
FetalThyroid57
Fetalbrain28.4
Fetalliver41.3
Fetallung101.75
GlobusPallidus33.2
Heart50
Hypothalamus28.75
Kidney34.05
Leukemia_chronicMyelogenousK-56225.1
Leukemia_promyelocytic-HL-6024.05
Leukemialymphoblastic(MOLT-4)26.75
Liver44.15
Lung44.05
Lymphnode74.4
Lymphoma_burkitts(Daudi)40.65
Lymphoma_burkitts(Raji)47.35
MedullaOblongata24.55
OccipitalLobe27.5
OlfactoryBulb50.35
Ovary45.25
Pancreas36.8
PancreaticIslet42.85
ParietalLobe39.6
Pituitary57.4
Placenta188.15
Pons40.95
PrefrontalCortex48.65
Prostate136.85
Salivarygland53.2
SkeletalMuscle71.3
Skin53.1
SmoothMuscle98.55
Spinalcord35.95
SubthalamicNucleus35.15
SuperiorCervicalGanglion80.55
TemporalLobe39.75
Testis26.8
TestisGermCell26.75
TestisIntersitial36.5
TestisLeydigCell41
TestisSeminiferousTubule29.7
Thalamus41.35
Thymus38.5
Thyroid100.85
Tongue65.4
Tonsil42
Trachea64.8
TrigeminalGanglion59.1
Uterus330.15
UterusCorpus101.65
WholeBlood107.4
Wholebrain21.7
colon237.25
pineal_day35.6
pineal_night35.26
retina120.1
small_intestine185.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P431410
  • 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
Amygdala8.83 ± 0.42
Basal Forebrain9.84 ± 0.48
Basal Part of Pons8.97 ± 0.34
Cerebellar Cortex8.72 ± 0.27
Cerebellar Nuclei9.74 ± 0.39
Claustrum9.94 ± 0.42
Epithalamus9.13 ± 0.54
Frontal Lobe9.17 ± 0.38
Globus Pallidus9.57 ± 0.18
Hypothalamus9.44 ± 0.26
Insula8.96 ± 0.25
Limbic Lobe8.74 ± 0.48
Mesencephalon9.58 ± 0.45
Myelencephalon9.34 ± 0.38
Occipital Lobe9.76 ± 0.73
Parietal Lobe9.31 ± 0.3
Pontine Tegmentum9.28 ± 0.5
Striatum10.39 ± 0.39
Subthalamus9.54 ± 0.25
Temporal Lobe8.81 ± 0.38
Thalamus9.49 ± 0.37
White Matter9.32 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbms1CBCerebellum18.02
21.77
Rbms1CTXCerebral cortex2.33
1.04
Rbms1HIPHippocampal region1.4
1.64
Rbms1HPFHippocampal formation1.58
1.7
Rbms1HYHypothalamus0.87
0.49
Rbms1LSXLateral septal complex0.89
0.58
Rbms1MBMidbrain1.41
0.87
Rbms1MYMedulla7.59
4.34
Rbms1OLFOlfactory bulb1.29
0.76
Rbms1PPons3.25
1.86
Rbms1PALPallidum2.53
1.07
Rbms1RHPRetrohippocampal region1.87
1.83
Rbms1sAMYStriatum-like amygdalar nuclei1.36
0.73
Rbms1STRStriatum2.81
1.13
Rbms1STRdStriatum dorsal region3.13
1.24
Rbms1STRvStriatum ventral region2.6
1.02
Rbms1THThalamus4.17
1.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011737 15 208 222 TPPGVSAPTEPLLCK 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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