AutismKB 2.0

Annotation Detail for ITGB1BP3


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Basic Information Top
Gene Symbol:ITGB1BP3 ( MGC126624,MIBP,NRK2 )
Gene Full Name: integrin beta 1 binding protein 3
Band: 19p13.3
Quick LinksEntrez ID:27231; OMIM: 608705; Uniprot ID:NRK2_HUMAN; ENSEMBL ID: ENSG00000077009; 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 body0 / 707610 
blastocyst2 / 6231932
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult13 / 19391216
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal22 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart7 / 8962678
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221051_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.3
Adipocyte8.15
AdrenalCortex10.4
Adrenalgland7.35
Amygdala7.8
Appendix10.35
AtrioventricularNode7.7
BDCA4+_DentriticCells7.5
Bonemarrow8.85
BronchialEpithelialCells7.5
CD105+_Endothelial7.75
CD14+_Monocytes8.5
CD19+_BCells(neg._sel.)8.05
CD33+_Myeloid9.4
CD34+9.55
CD4+_Tcells7.8
CD56+_NKCells8.55
CD71+_EarlyErythroid7.6
CD8+_Tcells7.25
CardiacMyocytes14.05
Caudatenucleus7.3
Cerebellum6.85
CerebellumPeduncles9.8
CiliaryGanglion6.8
CingulateCortex8.65
Colorectaladenocarcinoma7.9
DorsalRootGanglion7.25
FetalThyroid14
Fetalbrain8.1
Fetalliver7.25
Fetallung6.15
GlobusPallidus6.45
Heart2302.35
Hypothalamus8.35
Kidney7
Leukemia_chronicMyelogenousK-5627.35
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)6.5
Liver11.6
Lung8.7
Lymphnode6.4
Lymphoma_burkitts(Daudi)11
Lymphoma_burkitts(Raji)12.95
MedullaOblongata7.5
OccipitalLobe7.15
OlfactoryBulb6.2
Ovary6.25
Pancreas6.8
PancreaticIslet8.7
ParietalLobe9.35
Pituitary9.5
Placenta7.6
Pons8
PrefrontalCortex9.35
Prostate9.3
Salivarygland6.9
SkeletalMuscle25.95
Skin7.6
SmoothMuscle9.25
Spinalcord8.75
SubthalamicNucleus7.9
SuperiorCervicalGanglion11.7
TemporalLobe7.7
Testis7.15
TestisGermCell6.65
TestisIntersitial7.15
TestisLeydigCell8.6
TestisSeminiferousTubule7.1
Thalamus8.3
Thymus6
Thyroid10.5
Tongue14
Tonsil8.9
Trachea6.85
TrigeminalGanglion11.15
Uterus6.5
UterusCorpus8.8
WholeBlood8.55
Wholebrain6.4
colon7.95
pineal_day9.62
pineal_night9.46
retina10.025
small_intestine7.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8134_PI416261804
  • 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
Amygdala1.97 ± 1.05
Basal Forebrain1.48 ± 0.19
Basal Part of Pons1.22 ± 0.33
Cerebellar Cortex1.32 ± 0.73
Cerebellar Nuclei1.98 ± 0.75
Claustrum2.47 ± 0.92
Epithalamus1.27 ± 0.71
Frontal Lobe1.35 ± 0.58
Globus Pallidus2.26 ± 0.45
Hypothalamus1.66 ± 0.64
Insula1.49 ± 0.65
Limbic Lobe1.52 ± 0.6
Mesencephalon1.63 ± 0.64
Myelencephalon1.58 ± 0.68
Occipital Lobe1.59 ± 0.65
Parietal Lobe1.56 ± 0.74
Pontine Tegmentum1.62 ± 0.84
Striatum1.73 ± 0.58
Subthalamus1.66 ± 0.65
Temporal Lobe1.49 ± 0.76
Thalamus1.54 ± 0.65
White Matter1.93 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itgb1bp3CBCerebellum0.21
0.34
Itgb1bp3CTXCerebral cortex0.29
0.47
Itgb1bp3HIPHippocampal region0.17
0.31
Itgb1bp3HPFHippocampal formation0.18
0.25
Itgb1bp3HYHypothalamus0
0
Itgb1bp3LSXLateral septal complex3.34
2.96
Itgb1bp3MBMidbrain0.14
0.3
Itgb1bp3MYMedulla0.1
0.13
Itgb1bp3OLFOlfactory bulb0.05
0.07
Itgb1bp3PPons0.06
0.05
Itgb1bp3PALPallidum0.33
0.3
Itgb1bp3RHPRetrohippocampal region0.16
0.16
Itgb1bp3sAMYStriatum-like amygdalar nuclei0.02
0
Itgb1bp3STRStriatum0.22
0.19
Itgb1bp3STRdStriatum dorsal region0.06
0.05
Itgb1bp3STRvStriatum ventral region0.07
0.07
Itgb1bp3THThalamus0.12
0.23
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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