AutismKB 2.0

Annotation Detail for CREBBP


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Basic Information Top
Gene Symbol:CREBBP ( CBP,KAT3A,RSTS )
Gene Full Name: CREB binding protein
Band: 16p13.3
Quick LinksEntrez ID:1387; OMIM: 600140; Uniprot ID:CBP_HUMAN; ENSEMBL ID: ENSG00000005339; HGNC ID: 2348
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 body5 / 7076170
blastocyst2 / 6231932
fetus58 / 564012102
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult204 / 1939121105
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor20 / 94178212
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor14 / 26384553
glioma14 / 106883130
head and neck tumor32 / 136302234
kidney tumor3 / 6895943
leukemia11 / 95842114
liver tumor0 / 963590 
lung tumor13 / 103127126
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal239 / 336030771
ovarian tumor9 / 76682117
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone2 / 7165527
bone marrow2 / 4880140
brain47 / 110098942
cervix0 / 481710 
connective tissue7 / 14925546
ear6 / 16212370
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye12 / 21105456
heart6 / 8962666
intestine12 / 23447251
kidney17 / 21177780
larynx15 / 24145621
liver3 / 20774314
lung28 / 33697483
lymph3 / 4427067
lymph node20 / 91610218
mammary gland36 / 153271234
mouth12 / 67052178
muscle3 / 10771527
nerve1 / 1576863
ovary9 / 10205188
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta20 / 28082571
prostate10 / 18934552
salivary gland1 / 2015549
skin9 / 21057442
spleen1 / 5395218
stomach9 / 9661993
testis25 / 33044275
thymus5 / 8113161
thyroid6 / 47473126
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202160_at
Cell line Expression level Expression bar
721_B_lymphoblasts70.2
Adipocyte21.95
AdrenalCortex20.15
Adrenalgland30.85
Amygdala41.9
Appendix30.8
AtrioventricularNode18.7
BDCA4+_DentriticCells58.9
Bonemarrow64.75
BronchialEpithelialCells13.2
CD105+_Endothelial34.7
CD14+_Monocytes71.15
CD19+_BCells(neg._sel.)88.6
CD33+_Myeloid172.45
CD34+68.45
CD4+_Tcells165.4
CD56+_NKCells135.65
CD71+_EarlyErythroid70.05
CD8+_Tcells129.75
CardiacMyocytes15.65
Caudatenucleus37.7
Cerebellum103.6
CerebellumPeduncles47.05
CiliaryGanglion23.35
CingulateCortex31.3
Colorectaladenocarcinoma17.25
DorsalRootGanglion15.75
FetalThyroid22
Fetalbrain85
Fetalliver37.9
Fetallung42.75
GlobusPallidus10.9
Heart22.9
Hypothalamus28.65
Kidney15.2
Leukemia_chronicMyelogenousK-56211.85
Leukemia_promyelocytic-HL-6014.35
Leukemialymphoblastic(MOLT-4)12.3
Liver31.85
Lung71.3
Lymphnode45.4
Lymphoma_burkitts(Daudi)45.95
Lymphoma_burkitts(Raji)27.8
MedullaOblongata39.6
OccipitalLobe20.3
OlfactoryBulb19.25
Ovary16.05
Pancreas14.2
PancreaticIslet26.25
ParietalLobe16.75
Pituitary40.1
Placenta68.55
Pons13.35
PrefrontalCortex118
Prostate92.95
Salivarygland23.9
SkeletalMuscle22.4
Skin14.05
SmoothMuscle18.4
Spinalcord25.35
SubthalamicNucleus19.4
SuperiorCervicalGanglion29
TemporalLobe10.45
Testis86.25
TestisGermCell31.7
TestisIntersitial17.2
TestisLeydigCell29.85
TestisSeminiferousTubule23.15
Thalamus19.9
Thymus66.1
Thyroid58.8
Tongue14.65
Tonsil17
Trachea39
TrigeminalGanglion17.65
Uterus133.05
UterusCorpus15.65
WholeBlood407.95
Wholebrain33.3
colon127.65
pineal_day62.14
pineal_night55.64
retina102.2
small_intestine152.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P163850
  • 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
Amygdala7.7 ± 0.39
Basal Forebrain7.53 ± 0.22
Basal Part of Pons7.28 ± 0.23
Cerebellar Cortex7.89 ± 0.39
Cerebellar Nuclei7.33 ± 0.45
Claustrum7.48 ± 0.61
Epithalamus7.62 ± 0.36
Frontal Lobe7.45 ± 0.35
Globus Pallidus7.51 ± 0.32
Hypothalamus7.11 ± 0.56
Insula7.59 ± 0.34
Limbic Lobe7.68 ± 0.38
Mesencephalon7.53 ± 0.48
Myelencephalon7.59 ± 0.41
Occipital Lobe7.84 ± 0.37
Parietal Lobe7.66 ± 0.32
Pontine Tegmentum7.49 ± 0.35
Striatum7.49 ± 0.32
Subthalamus7.32 ± 0.29
Temporal Lobe7.63 ± 0.36
Thalamus7.49 ± 0.38
White Matter7.79 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CrebbpCBCerebellum15.51
14.79
CrebbpCTXCerebral cortex33.85
23.97
CrebbpHIPHippocampal region31.87
34.41
CrebbpHPFHippocampal formation27.66
26.34
CrebbpHYHypothalamus3.56
2.51
CrebbpLSXLateral septal complex6.61
4.18
CrebbpMBMidbrain4.84
4.1
CrebbpMYMedulla10.91
13.09
CrebbpOLFOlfactory bulb22.41
17.57
CrebbpPPons6.24
6.61
CrebbpPALPallidum5.39
4.5
CrebbpRHPRetrohippocampal region20.8
15.24
CrebbpsAMYStriatum-like amygdalar nuclei5.66
3.94
CrebbpSTRStriatum7.89
5.39
CrebbpSTRdStriatum dorsal region7.3
5
CrebbpSTRvStriatum ventral region11.41
7.49
CrebbpTHThalamus13.44
10.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CBP_HUMAN_2 13 2 14 AENLLDGPPNPKR PRIDE
CBP_HUMAN_69 7 69 75 QLSELLR PRIDE
PAp00499638 10 425 434 HDCPVCLPLK 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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