AutismKB 2.0

Annotation Detail for PBRM1


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Basic Information Top
Gene Symbol:PBRM1 ( BAF180,MGC156155,MGC156156,PB1 )
Gene Full Name: polybromo 1
Band: 3p21.1
Quick LinksEntrez ID:55193; OMIM: 606083; Uniprot ID:PB1_HUMAN; ENSEMBL ID: ENSG00000163939; HGNC ID: 30064
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
blastocyst4 / 6231964
fetus75 / 564012132
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult85 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor29 / 263845109
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal236 / 336030770
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow2 / 4880140
brain29 / 110098926
cervix3 / 4817162
connective tissue5 / 14925533
ear2 / 16212123
embryonic tissue17 / 21572278
esophagus2 / 2020998
eye13 / 21105461
heart6 / 8962666
intestine11 / 23447246
kidney11 / 21177751
larynx0 / 241450 
liver10 / 20774348
lung11 / 33697432
lymph0 / 442700 
lymph node26 / 91610283
mammary gland6 / 15327139
mouth0 / 670520 
muscle5 / 10771546
nerve2 / 15768126
ovary3 / 10205129
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta13 / 28082546
prostate5 / 18934526
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach3 / 9661931
testis24 / 33044272
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220355_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts56.4
Adipocyte22.6
AdrenalCortex19.4
Adrenalgland14.15
Amygdala14.75
Appendix17.95
AtrioventricularNode28.05
BDCA4+_DentriticCells106.1
Bonemarrow13.75
BronchialEpithelialCells14.4
CD105+_Endothelial89.8
CD14+_Monocytes83.15
CD19+_BCells(neg._sel.)53.75
CD33+_Myeloid129.6
CD34+118.05
CD4+_Tcells63.3
CD56+_NKCells173.25
CD71+_EarlyErythroid110.4
CD8+_Tcells49.05
CardiacMyocytes11.9
Caudatenucleus14.7
Cerebellum12.6
CerebellumPeduncles24.05
CiliaryGanglion13.4
CingulateCortex22.05
Colorectaladenocarcinoma10.75
DorsalRootGanglion15.55
FetalThyroid52.75
Fetalbrain49
Fetalliver22.9
Fetallung19.65
GlobusPallidus8.15
Heart12.2
Hypothalamus21.05
Kidney5.6
Leukemia_chronicMyelogenousK-56214.65
Leukemia_promyelocytic-HL-6018.45
Leukemialymphoblastic(MOLT-4)73.6
Liver22.45
Lung15.85
Lymphnode16.5
Lymphoma_burkitts(Daudi)51.6
Lymphoma_burkitts(Raji)15.5
MedullaOblongata15.55
OccipitalLobe13.85
OlfactoryBulb15.8
Ovary12.2
Pancreas11.6
PancreaticIslet18.2
ParietalLobe15.5
Pituitary51.35
Placenta44.55
Pons15.85
PrefrontalCortex32.9
Prostate25.35
Salivarygland12.9
SkeletalMuscle20.8
Skin14.3
SmoothMuscle18.3
Spinalcord15.35
SubthalamicNucleus15.3
SuperiorCervicalGanglion19.15
TemporalLobe17.5
Testis13.2
TestisGermCell13.3
TestisIntersitial13.6
TestisLeydigCell13.95
TestisSeminiferousTubule13.85
Thalamus13.15
Thymus65.55
Thyroid21
Tongue16.8
Tonsil22.6
Trachea15.1
TrigeminalGanglion16.95
Uterus42.65
UterusCorpus15.45
WholeBlood17.7
Wholebrain11.85
colon36.1
pineal_day24.98
pineal_night23.16
retina19.95
small_intestine39.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P218863
  • 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
Amygdala2.62 ± 0.86
Basal Forebrain1.91 ± 0.42
Basal Part of Pons2.49 ± 0.53
Cerebellar Cortex2.64 ± 0.38
Cerebellar Nuclei2.57 ± 0.52
Claustrum2.45 ± 0.49
Epithalamus3.05 ± 0.37
Frontal Lobe2.24 ± 0.6
Globus Pallidus2.41 ± 0.8
Hypothalamus2.34 ± 0.64
Insula2.08 ± 0.46
Limbic Lobe2.26 ± 0.62
Mesencephalon2.36 ± 0.65
Myelencephalon2.29 ± 0.51
Occipital Lobe2.56 ± 0.46
Parietal Lobe2.33 ± 0.6
Pontine Tegmentum2.26 ± 0.65
Striatum2.02 ± 0.61
Subthalamus2.88 ± 0.46
Temporal Lobe2.19 ± 0.59
Thalamus2.24 ± 0.49
White Matter2.78 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pb1CBCerebellum30.1
35.3
Pb1CTXCerebral cortex22
16.52
Pb1HIPHippocampal region21.13
24.47
Pb1HPFHippocampal formation17.61
18.23
Pb1HYHypothalamus7.63
5.79
Pb1LSXLateral septal complex7.89
5.91
Pb1MBMidbrain14.64
13.73
Pb1MYMedulla19.73
23.8
Pb1OLFOlfactory bulb30.08
25.79
Pb1PPons16.26
18.42
Pb1PALPallidum5.47
4.72
Pb1RHPRetrohippocampal region10.37
8.13
Pb1sAMYStriatum-like amygdalar nuclei7.74
5.57
Pb1STRStriatum8.65
6.57
Pb1STRdStriatum dorsal region7.07
5.69
Pb1STRvStriatum ventral region14.85
9.97
Pb1THThalamus14.56
12.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024564 28 799 826 CYSDSLAEIPAVDPNFPNKPPLTFDIIR 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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