AutismKB 2.0

Annotation Detail for CBL


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Basic Information Top
Gene Symbol:CBL ( C-CBL,CBL2,RNF55 )
Gene Full Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence
Band: 11q23.3
Quick LinksEntrez ID:867; OMIM: 165360; Uniprot ID:CBL_HUMAN; ENSEMBL ID: ENSG00000110395; HGNC ID: 1541
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
fetus36 / 56401263
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult73 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor9 / 9417895
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor16 / 26384560
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal149 / 336030744
ovarian tumor0 / 766820 
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood5 / 12347840
bone5 / 7165569
bone marrow2 / 4880140
brain36 / 110098932
cervix1 / 4817120
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye8 / 21105437
heart4 / 8962644
intestine8 / 23447234
kidney7 / 21177733
larynx1 / 2414541
liver2 / 2077439
lung17 / 33697450
lymph1 / 4427022
lymph node14 / 91610152
mammary gland13 / 15327184
mouth1 / 6705214
muscle5 / 10771546
nerve1 / 1576863
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate2 / 18934510
salivary gland1 / 2015549
skin7 / 21057433
spleen6 / 53952111
stomach1 / 9661910
testis27 / 33044281
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206607_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.7
Adipocyte3.7
AdrenalCortex3.85
Adrenalgland3.1
Amygdala3.95
Appendix3.85
AtrioventricularNode2.8
BDCA4+_DentriticCells4.55
Bonemarrow3.65
BronchialEpithelialCells3.7
CD105+_Endothelial3.8
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4
CD33+_Myeloid4.8
CD34+4.75
CD4+_Tcells4.15
CD56+_NKCells4.5
CD71+_EarlyErythroid3.5
CD8+_Tcells3.65
CardiacMyocytes4.7
Caudatenucleus3.35
Cerebellum3
CerebellumPeduncles4.2
CiliaryGanglion2.6
CingulateCortex3.8
Colorectaladenocarcinoma3.75
DorsalRootGanglion2.85
FetalThyroid3.6
Fetalbrain3.75
Fetalliver3.2
Fetallung3.15
GlobusPallidus2.7
Heart4.7
Hypothalamus4.05
Kidney3
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver4.85
Lung4.25
Lymphnode4.05
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)5.2
MedullaOblongata3.45
OccipitalLobe3.35
OlfactoryBulb2.95
Ovary2.45
Pancreas2.95
PancreaticIslet4
ParietalLobe3.9
Pituitary4.35
Placenta3.9
Pons3.5
PrefrontalCortex4.7
Prostate4.4
Salivarygland3
SkeletalMuscle4.8
Skin2.8
SmoothMuscle4.3
Spinalcord4
SubthalamicNucleus3.4
SuperiorCervicalGanglion4.15
TemporalLobe3.4
Testis5.6
TestisGermCell5.85
TestisIntersitial4.65
TestisLeydigCell3.65
TestisSeminiferousTubule3.6
Thalamus3.8
Thymus3
Thyroid4.75
Tongue3.6
Tonsil3.6
Trachea3.1
TrigeminalGanglion3.65
Uterus3.05
UterusCorpus3.35
WholeBlood4.15
Wholebrain3.2
colon3.75
pineal_day4.62
pineal_night4.52
retina4.475
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P339191
  • 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
Amygdala9.06 ± 0.23
Basal Forebrain9.37 ± 0.24
Basal Part of Pons8.9 ± 0.2
Cerebellar Cortex9.14 ± 0.24
Cerebellar Nuclei8.95 ± 0.26
Claustrum9.13 ± 0.39
Epithalamus9.07 ± 0.4
Frontal Lobe9.12 ± 0.25
Globus Pallidus9.21 ± 0.3
Hypothalamus9.23 ± 0.17
Insula9.09 ± 0.25
Limbic Lobe9.15 ± 0.3
Mesencephalon9.19 ± 0.28
Myelencephalon9.15 ± 0.3
Occipital Lobe9.08 ± 0.32
Parietal Lobe9.14 ± 0.28
Pontine Tegmentum9.1 ± 0.29
Striatum9.12 ± 0.26
Subthalamus8.81 ± 0.18
Temporal Lobe9.14 ± 0.26
Thalamus9.22 ± 0.27
White Matter8.96 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CblCBCerebellum3.69
3.56
CblCTXCerebral cortex6.76
4.58
CblHIPHippocampal region14.86
13.47
CblHPFHippocampal formation12.32
10.5
CblHYHypothalamus0.29
0.18
CblLSXLateral septal complex4.03
2.68
CblMBMidbrain0.86
0.8
CblMYMedulla1.67
1.76
CblOLFOlfactory bulb10.76
8.82
CblPPons0.98
1.02
CblPALPallidum1.56
1.42
CblRHPRetrohippocampal region8.09
6.27
CblsAMYStriatum-like amygdalar nuclei3.95
2.83
CblSTRStriatum2.81
1.87
CblSTRdStriatum dorsal region2.36
1.57
CblSTRvStriatum ventral region3.26
2.03
CblTHThalamus2.22
1.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CBL_HUMAN_707 12 707 718 PLRPLDTSQSSR PRIDE
PAp00036570 19 344 362 NQNPDLTGLCEPTPQDHIK 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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