AutismKB 2.0

Annotation Detail for TP53BP1


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Basic Information Top
Gene Symbol:TP53BP1 ( 53BP1,FLJ41424,MGC138366,p202 )
Gene Full Name: tumor protein p53 binding protein 1
Band: 15q15.3
Quick LinksEntrez ID:7158; OMIM: 605230; Uniprot ID:TP53B_HUMAN; ENSEMBL ID: ENSG00000067369; HGNC ID: 11999
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
blastocyst7 / 62319112
fetus40 / 56401270
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult135 / 193912169
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) tumor36 / 94178382
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor13 / 13630295
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal161 / 336030747
ovarian tumor9 / 76682117
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor21 / 124949168
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites4 / 4001599
bladder3 / 29757100
blood4 / 12347832
bone2 / 7165527
bone marrow4 / 4880181
brain57 / 110098951
cervix3 / 4817162
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye10 / 21105447
heart7 / 8962678
intestine9 / 23447238
kidney4 / 21177718
larynx5 / 24145207
liver4 / 20774319
lung17 / 33697450
lymph0 / 442700 
lymph node2 / 9161021
mammary gland37 / 153271241
mouth2 / 6705229
muscle6 / 10771555
nerve0 / 157680 
ovary12 / 102051117
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate14 / 18934573
salivary gland1 / 2015549
skin25 / 210574118
spleen3 / 5395255
stomach0 / 966190 
testis15 / 33044245
thymus4 / 8113149
thyroid5 / 47473105
tonsil2 / 16999117
trachea4 / 5241376
umbilical cord0 / 136800 
uterus23 / 23287898
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203050_at
Cell line Expression level Expression bar
721_B_lymphoblasts26.5
Adipocyte15.55
AdrenalCortex16.85
Adrenalgland12.5
Amygdala17.7
Appendix16.5
AtrioventricularNode12.1
BDCA4+_DentriticCells18.45
Bonemarrow13.55
BronchialEpithelialCells14.5
CD105+_Endothelial16.7
CD14+_Monocytes15.9
CD19+_BCells(neg._sel.)17.75
CD33+_Myeloid18.4
CD34+37.2
CD4+_Tcells19.35
CD56+_NKCells19.5
CD71+_EarlyErythroid12.55
CD8+_Tcells19.4
CardiacMyocytes20.75
Caudatenucleus14.15
Cerebellum11.95
CerebellumPeduncles18.65
CiliaryGanglion12.5
CingulateCortex16.75
Colorectaladenocarcinoma16.1
DorsalRootGanglion12.3
FetalThyroid16
Fetalbrain27.4
Fetalliver13.65
Fetallung19.25
GlobusPallidus12
Heart20.65
Hypothalamus21.2
Kidney10.55
Leukemia_chronicMyelogenousK-56214.9
Leukemia_promyelocytic-HL-6014.25
Leukemialymphoblastic(MOLT-4)19.75
Liver21
Lung18.05
Lymphnode15
Lymphoma_burkitts(Daudi)19.05
Lymphoma_burkitts(Raji)22.9
MedullaOblongata16.35
OccipitalLobe15.4
OlfactoryBulb13
Ovary10.55
Pancreas13
PancreaticIslet17.3
ParietalLobe16.55
Pituitary34.2
Placenta16.6
Pons15.2
PrefrontalCortex20.75
Prostate19.4
Salivarygland12.85
SkeletalMuscle18.45
Skin12.45
SmoothMuscle18.75
Spinalcord17.55
SubthalamicNucleus14.8
SuperiorCervicalGanglion18.35
TemporalLobe14.7
Testis14.15
TestisGermCell21.9
TestisIntersitial17
TestisLeydigCell16.65
TestisSeminiferousTubule17.35
Thalamus17.05
Thymus13.15
Thyroid20.8
Tongue16.1
Tonsil16
Trachea13.6
TrigeminalGanglion16.7
Uterus14.6
UterusCorpus17.55
WholeBlood16.6
Wholebrain14.15
colon14.7
pineal_day37.6
pineal_night62.76
retina19.325
small_intestine14.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P88703
  • 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
Amygdala8.22 ± 0.24
Basal Forebrain8.25 ± 0.14
Basal Part of Pons8.27 ± 0.15
Cerebellar Cortex8.18 ± 0.16
Cerebellar Nuclei7.95 ± 0.17
Claustrum8.28 ± 0.21
Epithalamus8.66 ± 0.35
Frontal Lobe8.32 ± 0.23
Globus Pallidus7.82 ± 0.27
Hypothalamus8.59 ± 0.13
Insula8.42 ± 0.15
Limbic Lobe8.28 ± 0.27
Mesencephalon8.26 ± 0.26
Myelencephalon8.2 ± 0.3
Occipital Lobe8.06 ± 0.29
Parietal Lobe8.22 ± 0.23
Pontine Tegmentum8.22 ± 0.29
Striatum8.01 ± 0.28
Subthalamus8.21 ± 0.27
Temporal Lobe8.38 ± 0.2
Thalamus8.17 ± 0.22
White Matter7.72 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Trp53bp1CBCerebellum33.2
41.19
Trp53bp1CTXCerebral cortex100
87.99
Trp53bp1HIPHippocampal region83.61
93.33
Trp53bp1HPFHippocampal formation91.45
88.05
Trp53bp1HYHypothalamus100
84.73
Trp53bp1LSXLateral septal complex100
81.81
Trp53bp1MBMidbrain100
82.59
Trp53bp1MYMedulla80.46
78.56
Trp53bp1OLFOlfactory bulb100
88.69
Trp53bp1PPons90.62
80.31
Trp53bp1PALPallidum100
90.08
Trp53bp1RHPRetrohippocampal region100
82.34
Trp53bp1sAMYStriatum-like amygdalar nuclei100
81.96
Trp53bp1STRStriatum97.18
60.75
Trp53bp1STRdStriatum dorsal region87.74
50.79
Trp53bp1STRvStriatum ventral region100
72.63
Trp53bp1THThalamus97.55
76.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011107 25 1176 1200 NVCEQGTSTVDQNFGKQDATVQTER 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