AutismKB 2.0

Annotation Detail for ITGB1BP1


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Basic Information Top
Gene Symbol:ITGB1BP1 ( DKFZp686K08158,ICAP-1A,ICAP-1B,ICAP-1alpha,ICAP1,ICAP1A,ICAP1B )
Gene Full Name: integrin beta 1 binding protein 1
Band: 2p25.1
Quick LinksEntrez ID:9270; OMIM: 607153; Uniprot ID:ITBP1_HUMAN; ENSEMBL ID: ENSG00000119185; HGNC ID: 23927
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
blastocyst1 / 6231916
fetus22 / 56401239
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult127 / 193912165
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma6 / 10688356
head and neck tumor14 / 136302102
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal190 / 336030756
ovarian tumor10 / 76682130
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor10 / 12494980
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone6 / 7165583
bone marrow2 / 4880140
brain76 / 110098969
cervix0 / 481710 
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye10 / 21105447
heart4 / 8962644
intestine19 / 23447281
kidney13 / 21177761
larynx3 / 24145124
liver10 / 20774348
lung24 / 33697471
lymph2 / 4427045
lymph node17 / 91610185
mammary gland5 / 15327132
mouth9 / 67052134
muscle8 / 10771574
nerve0 / 157680 
ovary10 / 10205197
pancreas11 / 21481251
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta21 / 28082574
prostate2 / 18934510
salivary gland2 / 2015599
skin13 / 21057461
spleen1 / 5395218
stomach2 / 9661920
testis7 / 33044221
thymus1 / 8113112
thyroid1 / 4747321
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord2 / 13680146
uterus18 / 23287877
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203336_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts220.6
Adipocyte146.9
AdrenalCortex33.75
Adrenalgland38.95
Amygdala216.5
Appendix46.3
AtrioventricularNode28.75
BDCA4+_DentriticCells117.05
Bonemarrow31.15
BronchialEpithelialCells202.85
CD105+_Endothelial127.45
CD14+_Monocytes211
CD19+_BCells(neg._sel.)127.65
CD33+_Myeloid174.15
CD34+168.1
CD4+_Tcells166.25
CD56+_NKCells202.45
CD71+_EarlyErythroid87.7
CD8+_Tcells165.8
CardiacMyocytes134.1
Caudatenucleus133.05
Cerebellum48.65
CerebellumPeduncles68.8
CiliaryGanglion15.3
CingulateCortex83.2
Colorectaladenocarcinoma158.1
DorsalRootGanglion35.6
FetalThyroid57.8
Fetalbrain76.45
Fetalliver22.8
Fetallung44.95
GlobusPallidus41.6
Heart59.95
Hypothalamus159.7
Kidney31.95
Leukemia_chronicMyelogenousK-56234.1
Leukemia_promyelocytic-HL-6093.55
Leukemialymphoblastic(MOLT-4)53.7
Liver36.15
Lung126.65
Lymphnode35.5
Lymphoma_burkitts(Daudi)83.05
Lymphoma_burkitts(Raji)110.3
MedullaOblongata72.75
OccipitalLobe126.85
OlfactoryBulb78.15
Ovary11.2
Pancreas44.85
PancreaticIslet52.25
ParietalLobe59.3
Pituitary58.3
Placenta48.2
Pons46.95
PrefrontalCortex139.4
Prostate46.8
Salivarygland34.25
SkeletalMuscle22.6
Skin16.55
SmoothMuscle102.1
Spinalcord78.5
SubthalamicNucleus52.6
SuperiorCervicalGanglion26.5
TemporalLobe50.8
Testis22.15
TestisGermCell40.95
TestisIntersitial20.3
TestisLeydigCell16.4
TestisSeminiferousTubule19.95
Thalamus126.6
Thymus47.8
Thyroid127.55
Tongue49.3
Tonsil28.7
Trachea29.15
TrigeminalGanglion30
Uterus76.65
UterusCorpus71.05
WholeBlood63.7
Wholebrain268.35
colon62.9
pineal_day112.9
pineal_night102.34
retina202.35
small_intestine60.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15660_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
Amygdala8.97 ± 0.19
Basal Forebrain8.88 ± 0.09
Basal Part of Pons9.27 ± 0.12
Cerebellar Cortex8.73 ± 0.15
Cerebellar Nuclei9.53 ± 0.15
Claustrum9.2 ± 0.18
Epithalamus8.32 ± 0.4
Frontal Lobe9.11 ± 0.3
Globus Pallidus8.91 ± 0.15
Hypothalamus8.81 ± 0.22
Insula8.91 ± 0.21
Limbic Lobe8.88 ± 0.29
Mesencephalon8.94 ± 0.36
Myelencephalon8.9 ± 0.36
Occipital Lobe8.55 ± 0.33
Parietal Lobe8.92 ± 0.29
Pontine Tegmentum8.89 ± 0.29
Striatum9.64 ± 0.33
Subthalamus9.46 ± 0.04
Temporal Lobe8.89 ± 0.23
Thalamus8.95 ± 0.27
White Matter8.57 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itgb1bp1CBCerebellum8.51
17.42
Itgb1bp1CTXCerebral cortex0.26
0.33
Itgb1bp1HIPHippocampal region1.43
1.33
Itgb1bp1HPFHippocampal formation0.86
0.77
Itgb1bp1HYHypothalamus0.16
0.23
Itgb1bp1LSXLateral septal complex0.41
0.37
Itgb1bp1MBMidbrain0.27
0.43
Itgb1bp1MYMedulla1.17
1.56
Itgb1bp1OLFOlfactory bulb0.45
0.84
Itgb1bp1PPons0.48
0.69
Itgb1bp1PALPallidum0.47
0.43
Itgb1bp1RHPRetrohippocampal region0.25
0.24
Itgb1bp1sAMYStriatum-like amygdalar nuclei0.5
0.38
Itgb1bp1STRStriatum4.97
3.56
Itgb1bp1STRdStriatum dorsal region5.92
4.27
Itgb1bp1STRvStriatum ventral region6.03
4.03
Itgb1bp1THThalamus2.28
2.16
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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