AutismKB 2.0

Annotation Detail for BAP1


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Basic Information Top
Gene Symbol:BAP1 ( DKFZp686N04275,FLJ35406,FLJ37180,HUCEP-13,KIAA0272,UCHL2 )
Gene Full Name: BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Band: 3p21.1
Quick LinksEntrez ID:8314; OMIM: 603089; Uniprot ID:BAP1_HUMAN; ENSEMBL ID: ENSG00000163930; HGNC ID: 950
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 body11 / 70761155
blastocyst9 / 62319144
fetus36 / 56401263
neonate0 / 310970 
infant2 / 2362084
juvenile6 / 55556107
adult152 / 193912178
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor18 / 119369150
germ cell tumor36 / 263845136
glioma14 / 106883130
head and neck tumor20 / 136302146
kidney tumor8 / 68959116
leukemia4 / 9584241
liver tumor4 / 9635941
lung tumor12 / 103127116
lymphoma8 / 71755111
non-neoplasia11 / 97250113
normal264 / 336030778
ovarian tumor8 / 76682104
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer22 / 102680214
retinoblastoma5 / 46356107
skin tumor24 / 124949192
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites2 / 4001549
bladder1 / 2975733
blood8 / 12347864
bone5 / 7165569
bone marrow0 / 488010 
brain129 / 1100989117
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus2 / 2020998
eye15 / 21105471
heart10 / 89626111
intestine21 / 23447289
kidney18 / 21177784
larynx3 / 24145124
liver7 / 20774333
lung20 / 33697459
lymph4 / 4427090
lymph node2 / 9161021
mammary gland3 / 15327119
mouth7 / 67052104
muscle10 / 10771592
nerve4 / 15768253
ovary12 / 102051117
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta25 / 28082589
prostate35 / 189345184
salivary gland1 / 2015549
skin29 / 210574137
spleen6 / 53952111
stomach17 / 96619175
testis58 / 330442175
thymus11 / 81131135
thyroid8 / 47473168
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201419_at
Cell line Expression level Expression bar
721_B_lymphoblasts62.45
Adipocyte28.3
AdrenalCortex28.7
Adrenalgland23.75
Amygdala62.15
Appendix28.15
AtrioventricularNode8.15
BDCA4+_DentriticCells57.9
Bonemarrow27.7
BronchialEpithelialCells28.6
CD105+_Endothelial71.15
CD14+_Monocytes31.05
CD19+_BCells(neg._sel.)36.05
CD33+_Myeloid54.75
CD34+74
CD4+_Tcells33.85
CD56+_NKCells72.25
CD71+_EarlyErythroid62.5
CD8+_Tcells30.1
CardiacMyocytes35
Caudatenucleus34.55
Cerebellum23.2
CerebellumPeduncles32.15
CiliaryGanglion17.05
CingulateCortex30.25
Colorectaladenocarcinoma43.3
DorsalRootGanglion20.9
FetalThyroid27.65
Fetalbrain32.8
Fetalliver24.35
Fetallung23.45
GlobusPallidus20.9
Heart35.3
Hypothalamus31.65
Kidney22.5
Leukemia_chronicMyelogenousK-56225.15
Leukemia_promyelocytic-HL-6025.1
Leukemialymphoblastic(MOLT-4)43.2
Liver36.85
Lung34.7
Lymphnode24.9
Lymphoma_burkitts(Daudi)36.05
Lymphoma_burkitts(Raji)37.45
MedullaOblongata42.7
OccipitalLobe27.95
OlfactoryBulb22.6
Ovary17.6
Pancreas14.8
PancreaticIslet30.05
ParietalLobe30.1
Pituitary32.55
Placenta30.1
Pons26.95
PrefrontalCortex91.4
Prostate33.95
Salivarygland22.45
SkeletalMuscle30.95
Skin20.9
SmoothMuscle32.05
Spinalcord30.5
SubthalamicNucleus25.95
SuperiorCervicalGanglion25.6
TemporalLobe32
Testis56.7
TestisGermCell42.75
TestisIntersitial39.4
TestisLeydigCell43
TestisSeminiferousTubule48.75
Thalamus29.05
Thymus23.25
Thyroid36.4
Tongue27.1
Tonsil27.65
Trachea18.2
TrigeminalGanglion27.55
Uterus23.65
UterusCorpus24.65
WholeBlood34.3
Wholebrain92.1
colon28.35
pineal_day38.28
pineal_night36.68
retina34.7
small_intestine20.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P302898
  • 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
Amygdala4.84 ± 0.6
Basal Forebrain4.23 ± 0.39
Basal Part of Pons5.13 ± 0.65
Cerebellar Cortex4.77 ± 0.8
Cerebellar Nuclei4.44 ± 0.58
Claustrum4.59 ± 0.78
Epithalamus4.55 ± 0.66
Frontal Lobe5.17 ± 0.64
Globus Pallidus3.8 ± 0.74
Hypothalamus4.29 ± 0.64
Insula5.2 ± 0.43
Limbic Lobe5.01 ± 0.79
Mesencephalon4.88 ± 0.74
Myelencephalon4.86 ± 0.77
Occipital Lobe4.35 ± 0.67
Parietal Lobe4.88 ± 0.6
Pontine Tegmentum4.7 ± 0.59
Striatum4.76 ± 0.66
Subthalamus5.09 ± 0.82
Temporal Lobe5.19 ± 0.58
Thalamus4.79 ± 0.65
White Matter3.01 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bap1CBCerebellum5.5
6.07
Bap1CTXCerebral cortex35.71
21.38
Bap1HIPHippocampal region24.14
24.32
Bap1HPFHippocampal formation26.21
19.86
Bap1HYHypothalamus3.77
2.56
Bap1LSXLateral septal complex4.09
3.22
Bap1MBMidbrain10.63
9.01
Bap1MYMedulla12.72
12.34
Bap1OLFOlfactory bulb27.4
16.2
Bap1PPons17.77
16.62
Bap1PALPallidum9.25
6.64
Bap1RHPRetrohippocampal region28.43
14.97
Bap1sAMYStriatum-like amygdalar nuclei6.74
3.51
Bap1STRStriatum7.77
4.82
Bap1STRdStriatum dorsal region8.01
5.2
Bap1STRvStriatum ventral region8.34
4.57
Bap1THThalamus8.37
5.71
Peptide Top

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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