AutismKB 2.0

Annotation Detail for BZRAP1


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Basic Information Top
Gene Symbol:BZRAP1 ( DKFZp686F02123,KIAA0612,PRAX-1,PRAX1,RIM-BP1,RIMBP1 )
Gene Full Name: benzodiazapine receptor (peripheral) associated protein 1
Band: 17q22-q23
Quick LinksEntrez ID:9256; OMIM: 610764; Uniprot ID:RIMB1_HUMAN; ENSEMBL ID: ENSG00000005379; HGNC ID:
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 body2 / 7076128
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal36 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205839_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts17
Adipocyte16.8
AdrenalCortex21.55
Adrenalgland16.85
Amygdala46.5
Appendix20.5
AtrioventricularNode26.75
BDCA4+_DentriticCells15.6
Bonemarrow19.7
BronchialEpithelialCells15.2
CD105+_Endothelial18.75
CD14+_Monocytes11.8
CD19+_BCells(neg._sel.)16.4
CD33+_Myeloid20.85
CD34+79.9
CD4+_Tcells19.5
CD56+_NKCells98.55
CD71+_EarlyErythroid18.85
CD8+_Tcells28.3
CardiacMyocytes25.7
Caudatenucleus61.55
Cerebellum44.6
CerebellumPeduncles27.75
CiliaryGanglion14.35
CingulateCortex49.7
Colorectaladenocarcinoma16.9
DorsalRootGanglion15.1
FetalThyroid19.35
Fetalbrain43.75
Fetalliver15.05
Fetallung15.1
GlobusPallidus57.6
Heart17.25
Hypothalamus35.3
Kidney23.15
Leukemia_chronicMyelogenousK-56216.35
Leukemia_promyelocytic-HL-6016.35
Leukemialymphoblastic(MOLT-4)29.1
Liver25.1
Lung21.45
Lymphnode20.7
Lymphoma_burkitts(Daudi)23.8
Lymphoma_burkitts(Raji)20.6
MedullaOblongata52.35
OccipitalLobe32.25
OlfactoryBulb15.35
Ovary13.25
Pancreas11.4
PancreaticIslet16.4
ParietalLobe33.9
Pituitary33.75
Placenta10.95
Pons27.5
PrefrontalCortex85.35
Prostate24.15
Salivarygland21.6
SkeletalMuscle24.25
Skin29.3
SmoothMuscle11.6
Spinalcord21
SubthalamicNucleus35.95
SuperiorCervicalGanglion36.95
TemporalLobe68.85
Testis13.4
TestisGermCell13.4
TestisIntersitial14.5
TestisLeydigCell17.6
TestisSeminiferousTubule16.6
Thalamus58.45
Thymus23.3
Thyroid25.4
Tongue19.7
Tonsil17.15
Trachea15.25
TrigeminalGanglion20.15
Uterus21.25
UterusCorpus17.7
WholeBlood14.95
Wholebrain40.2
colon7.4
pineal_day27.66
pineal_night24.62
retina24.3
small_intestine7.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P152559
  • 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
Amygdala9.43 ± 0.42
Basal Forebrain8.6 ± 0.23
Basal Part of Pons8.92 ± 0.24
Cerebellar Cortex8.94 ± 0.22
Cerebellar Nuclei8.39 ± 0.39
Claustrum8.81 ± 0.26
Epithalamus8.56 ± 0.49
Frontal Lobe9.09 ± 0.41
Globus Pallidus8.05 ± 0.32
Hypothalamus8.65 ± 0.37
Insula9.53 ± 0.26
Limbic Lobe9.35 ± 0.41
Mesencephalon9.02 ± 0.44
Myelencephalon9.01 ± 0.38
Occipital Lobe8.78 ± 0.42
Parietal Lobe9.04 ± 0.43
Pontine Tegmentum9.01 ± 0.32
Striatum9.07 ± 0.47
Subthalamus8.73 ± 0.22
Temporal Lobe9.43 ± 0.36
Thalamus8.96 ± 0.27
White Matter7.24 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bzrap1CBCerebellum62.21
100
Bzrap1CTXCerebral cortex100
100
Bzrap1HIPHippocampal region100
100
Bzrap1HPFHippocampal formation100
100
Bzrap1HYHypothalamus100
100
Bzrap1LSXLateral septal complex100
100
Bzrap1MBMidbrain100
100
Bzrap1MYMedulla100
100
Bzrap1OLFOlfactory bulb100
100
Bzrap1PPons100
100
Bzrap1PALPallidum100
100
Bzrap1RHPRetrohippocampal region100
100
Bzrap1sAMYStriatum-like amygdalar nuclei100
100
Bzrap1STRStriatum100
100
Bzrap1STRdStriatum dorsal region100
100
Bzrap1STRvStriatum ventral region100
100
Bzrap1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RIMB1_HUMAN_471 11 471 481 RLQQAQAEAQR PRIDE

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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