AutismKB 2.0

Annotation Detail for CBX1


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Basic Information Top
Gene Symbol:CBX1 ( CBX,HP1-BETA,HP1Hs-beta,HP1Hsbeta,M31,MOD1,p25beta )
Gene Full Name: chromobox homolog 1
Band: 17q21.32
Quick LinksEntrez ID:10951; OMIM: 604511; Uniprot ID:CBX1_HUMAN; ENSEMBL ID: ENSG00000108468; HGNC ID: 1551
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
blastocyst3 / 6231948
fetus79 / 564012140
neonate5 / 31097160
infant9 / 23620381
juvenile5 / 5555689
adult147 / 193912175
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) tumor6 / 9417863
cervical tumor6 / 34366174
chondrosarcoma20 / 82823241
colorectal tumor3 / 11424626
esophageal tumor4 / 17290231
gastrointestinal tumor5 / 11936941
germ cell tumor28 / 263845106
glioma17 / 106883159
head and neck tumor5 / 13630236
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia11 / 97250113
normal257 / 336030776
ovarian tumor14 / 76682182
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer4 / 10268038
retinoblastoma12 / 46356258
skin tumor9 / 12494972
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder3 / 29757100
blood7 / 12347856
bone14 / 71655195
bone marrow0 / 488010 
brain82 / 110098974
cervix8 / 48171166
connective tissue13 / 14925587
ear6 / 16212370
embryonic tissue26 / 215722120
esophagus4 / 20209197
eye34 / 211054161
heart28 / 89626312
intestine8 / 23447234
kidney14 / 21177766
larynx2 / 2414582
liver15 / 20774372
lung43 / 336974127
lymph3 / 4427067
lymph node4 / 9161043
mammary gland11 / 15327171
mouth1 / 6705214
muscle7 / 10771564
nerve0 / 157680 
ovary18 / 102051176
pancreas11 / 21481251
parathyroid14 / 20539681
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta8 / 28082528
prostate6 / 18934531
salivary gland0 / 201550 
skin23 / 210574109
spleen0 / 539520 
stomach8 / 9661982
testis29 / 33044287
thymus3 / 8113136
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord4 / 13680292
uterus15 / 23287864
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201518_at
Cell line Expression level Expression bar
721_B_lymphoblasts438.9
Adipocyte45.6
AdrenalCortex16.1
Adrenalgland23.65
Amygdala232.35
Appendix48.1
AtrioventricularNode17.75
BDCA4+_DentriticCells85.5
Bonemarrow17.35
BronchialEpithelialCells107.1
CD105+_Endothelial122.4
CD14+_Monocytes128.95
CD19+_BCells(neg._sel.)179.05
CD33+_Myeloid123.8
CD34+162.8
CD4+_Tcells105.65
CD56+_NKCells152.85
CD71+_EarlyErythroid50.9
CD8+_Tcells97.35
CardiacMyocytes150.85
Caudatenucleus99.9
Cerebellum65.45
CerebellumPeduncles106.5
CiliaryGanglion15.9
CingulateCortex120.05
Colorectaladenocarcinoma113.7
DorsalRootGanglion10.85
FetalThyroid76.95
Fetalbrain306.1
Fetalliver37.95
Fetallung112.1
GlobusPallidus55.25
Heart11.85
Hypothalamus211.65
Kidney23.15
Leukemia_chronicMyelogenousK-56255.1
Leukemia_promyelocytic-HL-60177.4
Leukemialymphoblastic(MOLT-4)583.15
Liver8.9
Lung24.1
Lymphnode34.85
Lymphoma_burkitts(Daudi)155.65
Lymphoma_burkitts(Raji)164.8
MedullaOblongata86.15
OccipitalLobe124.3
OlfactoryBulb109.15
Ovary58.85
Pancreas21.3
PancreaticIslet68.7
ParietalLobe82.5
Pituitary109.25
Placenta29.3
Pons76.6
PrefrontalCortex302.75
Prostate111.2
Salivarygland24.6
SkeletalMuscle13
Skin16.1
SmoothMuscle162.45
Spinalcord201.5
SubthalamicNucleus75.65
SuperiorCervicalGanglion27.45
TemporalLobe74.1
Testis115.1
TestisGermCell235.1
TestisIntersitial221.2
TestisLeydigCell163.55
TestisSeminiferousTubule141.1
Thalamus120.4
Thymus106.45
Thyroid185.35
Tongue27.95
Tonsil64.5
Trachea31.35
TrigeminalGanglion45.15
Uterus130.25
UterusCorpus47.55
WholeBlood187.35
Wholebrain106.05
colon101.2
pineal_day188.9
pineal_night202.52
retina170.875
small_intestine80.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P298174
  • 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
Amygdala10.23 ± 0.2
Basal Forebrain10 ± 0.25
Basal Part of Pons9.96 ± 0.22
Cerebellar Cortex9.88 ± 0.16
Cerebellar Nuclei9.83 ± 0.23
Claustrum10.24 ± 0.39
Epithalamus10.09 ± 0.23
Frontal Lobe9.93 ± 0.27
Globus Pallidus10.28 ± 0.15
Hypothalamus9.97 ± 0.26
Insula9.96 ± 0.31
Limbic Lobe10.11 ± 0.24
Mesencephalon9.95 ± 0.23
Myelencephalon10.01 ± 0.25
Occipital Lobe10.13 ± 0.28
Parietal Lobe9.98 ± 0.24
Pontine Tegmentum9.99 ± 0.26
Striatum10.03 ± 0.25
Subthalamus9.75 ± 0.08
Temporal Lobe9.95 ± 0.24
Thalamus9.92 ± 0.21
White Matter10.48 ± 0.12
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CBX1_HUMAN_121 16 121 136 IIGATDSSGELMFLMK PRIDE
CBX1_HUMAN_122 16 122 137 IIGATDSSGELMFLMK PRIDE
PAp00001278 12 156 167 CPQVVISFYEER 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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