AutismKB 2.0

Annotation Detail for CBLL1


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Basic Information Top
Gene Symbol:CBLL1 ( FLJ23109,HAKAI,MGC163401,MGC163403,RNF188 )
Gene Full Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1
Band: 7q22.3
Quick LinksEntrez ID:79872; OMIM: 606872; Uniprot ID:HAKAI_HUMAN; ENSEMBL ID: ENSG00000105879; HGNC ID: 21225
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 body3 / 7076142
blastocyst2 / 6231932
fetus14 / 56401224
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult40 / 193912120
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal122 / 336030736
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder4 / 29757134
blood4 / 12347832
bone0 / 716550 
bone marrow2 / 4880140
brain88 / 110098979
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye2 / 2110549
heart2 / 8962622
intestine2 / 2344728
kidney12 / 21177756
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph0 / 442700 
lymph node2 / 9161021
mammary gland6 / 15327139
mouth3 / 6705244
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate3 / 18934515
salivary gland3 / 20155148
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis13 / 33044239
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus16 / 23287868
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220018_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.25
Adipocyte10.85
AdrenalCortex15.55
Adrenalgland10.25
Amygdala11.05
Appendix15.2
AtrioventricularNode18.65
BDCA4+_DentriticCells13
Bonemarrow13.1
BronchialEpithelialCells11.15
CD105+_Endothelial28.65
CD14+_Monocytes13.15
CD19+_BCells(neg._sel.)14.95
CD33+_Myeloid14.3
CD34+32.95
CD4+_Tcells12.05
CD56+_NKCells18.2
CD71+_EarlyErythroid11.9
CD8+_Tcells18
CardiacMyocytes22.85
Caudatenucleus10.55
Cerebellum9.65
CerebellumPeduncles14.25
CiliaryGanglion11.35
CingulateCortex11.9
Colorectaladenocarcinoma12.35
DorsalRootGanglion11.75
FetalThyroid11.8
Fetalbrain11.15
Fetalliver10.4
Fetallung8.75
GlobusPallidus9.7
Heart19.4
Hypothalamus11.7
Kidney10.7
Leukemia_chronicMyelogenousK-56210.55
Leukemia_promyelocytic-HL-6010.1
Leukemialymphoblastic(MOLT-4)9
Liver18.05
Lung12.75
Lymphnode9.15
Lymphoma_burkitts(Daudi)16
Lymphoma_burkitts(Raji)17.8
MedullaOblongata10
OccipitalLobe10.1
OlfactoryBulb8.65
Ovary9.6
Pancreas9.9
PancreaticIslet12.05
ParietalLobe13.25
Pituitary13.45
Placenta11.45
Pons11.4
PrefrontalCortex11.15
Prostate13.35
Salivarygland9.8
SkeletalMuscle20.2
Skin12.8
SmoothMuscle13.15
Spinalcord11.5
SubthalamicNucleus11.1
SuperiorCervicalGanglion19.9
TemporalLobe10.8
Testis15.4
TestisGermCell9.25
TestisIntersitial10.15
TestisLeydigCell12.7
TestisSeminiferousTubule14.9
Thalamus12.2
Thymus8.6
Thyroid13.45
Tongue15
Tonsil11.8
Trachea9.7
TrigeminalGanglion16.75
Uterus8.55
UterusCorpus12.6
WholeBlood23.2
Wholebrain8.9
colon15.85
pineal_day13.46
pineal_night13.76
retina14.25
small_intestine12.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P146004
  • 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
Amygdala6.04 ± 0.38
Basal Forebrain6.16 ± 0.31
Basal Part of Pons6.23 ± 0.23
Cerebellar Cortex6.28 ± 0.28
Cerebellar Nuclei6.33 ± 0.34
Claustrum5.86 ± 0.52
Epithalamus6.1 ± 0.37
Frontal Lobe6.12 ± 0.3
Globus Pallidus5.98 ± 0.25
Hypothalamus6.27 ± 0.3
Insula6.16 ± 0.24
Limbic Lobe6.15 ± 0.43
Mesencephalon6.1 ± 0.33
Myelencephalon6.09 ± 0.36
Occipital Lobe6.21 ± 0.3
Parietal Lobe6.13 ± 0.29
Pontine Tegmentum6.16 ± 0.41
Striatum6.01 ± 0.28
Subthalamus6.17 ± 0.28
Temporal Lobe6.21 ± 0.32
Thalamus6.14 ± 0.31
White Matter6.75 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cbll1CBCerebellum100
100
Cbll1CTXCerebral cortex100
100
Cbll1HIPHippocampal region100
100
Cbll1HPFHippocampal formation100
100
Cbll1HYHypothalamus100
100
Cbll1LSXLateral septal complex100
100
Cbll1MBMidbrain100
100
Cbll1MYMedulla98.05
100
Cbll1OLFOlfactory bulb100
100
Cbll1PPons83.84
90.59
Cbll1PALPallidum100
100
Cbll1RHPRetrohippocampal region100
100
Cbll1sAMYStriatum-like amygdalar nuclei100
100
Cbll1STRStriatum100
100
Cbll1STRdStriatum dorsal region100
100
Cbll1STRvStriatum ventral region100
100
Cbll1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071616 19 288 306 KHSNLITVPIQDDSNSGAR 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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