AutismKB 2.0

Annotation Detail for BIN1


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Basic Information Top
Gene Symbol:BIN1 ( AMPH2,AMPHL,DKFZp547F068,MGC10367,SH3P9 )
Gene Full Name: bridging integrator 1
Band: 2q14.3
Quick LinksEntrez ID:274; OMIM: 601248; Uniprot ID:BIN1_HUMAN; ENSEMBL ID: ENSG00000136717; HGNC ID: 1052
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 body1 / 7076114
blastocyst4 / 6231964
fetus43 / 56401276
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult154 / 193912179
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor25 / 26384594
glioma8 / 10688374
head and neck tumor13 / 13630295
kidney tumor5 / 6895972
leukemia5 / 9584252
liver tumor4 / 9635941
lung tumor11 / 103127106
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal289 / 336030786
ovarian tumor1 / 7668213
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer2 / 10268019
retinoblastoma12 / 46356258
skin tumor2 / 12494916
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites9 / 40015224
bladder0 / 297570 
blood11 / 12347889
bone4 / 7165555
bone marrow0 / 488010 
brain119 / 1100989108
cervix9 / 48171186
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye40 / 211054189
heart10 / 89626111
intestine18 / 23447276
kidney15 / 21177770
larynx1 / 2414541
liver6 / 20774328
lung19 / 33697456
lymph0 / 442700 
lymph node8 / 9161087
mammary gland7 / 15327145
mouth0 / 670520 
muscle14 / 107715129
nerve4 / 15768253
ovary7 / 10205168
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta19 / 28082567
prostate10 / 18934552
salivary gland11 / 20155545
skin5 / 21057423
spleen12 / 53952222
stomach16 / 96619165
testis5 / 33044215
thymus1 / 8113112
thyroid0 / 474730 
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210201_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.6
Adipocyte49.25
AdrenalCortex93.35
Adrenalgland115.25
Amygdala453.3
Appendix45.15
AtrioventricularNode28.2
BDCA4+_DentriticCells195.85
Bonemarrow34.25
BronchialEpithelialCells24.2
CD105+_Endothelial21.75
CD14+_Monocytes36.6
CD19+_BCells(neg._sel.)354.9
CD33+_Myeloid37.15
CD34+51.5
CD4+_Tcells376.8
CD56+_NKCells194.45
CD71+_EarlyErythroid22.85
CD8+_Tcells268.45
CardiacMyocytes35.45
Caudatenucleus171.15
Cerebellum76.45
CerebellumPeduncles158.6
CiliaryGanglion27.05
CingulateCortex104.75
Colorectaladenocarcinoma44.55
DorsalRootGanglion38.5
FetalThyroid55.65
Fetalbrain146.65
Fetalliver38
Fetallung45.3
GlobusPallidus61.7
Heart48.8
Hypothalamus448.8
Kidney67.3
Leukemia_chronicMyelogenousK-56221.2
Leukemia_promyelocytic-HL-6024.15
Leukemialymphoblastic(MOLT-4)20.45
Liver73.65
Lung151.05
Lymphnode51.85
Lymphoma_burkitts(Daudi)30.1
Lymphoma_burkitts(Raji)35.5
MedullaOblongata172.25
OccipitalLobe173.7
OlfactoryBulb77.75
Ovary29.6
Pancreas23.7
PancreaticIslet32.65
ParietalLobe188.4
Pituitary62.15
Placenta39.05
Pons118.45
PrefrontalCortex671.9
Prostate185.35
Salivarygland18.95
SkeletalMuscle1018.1
Skin19.5
SmoothMuscle44.35
Spinalcord259.55
SubthalamicNucleus80.3
SuperiorCervicalGanglion25.3
TemporalLobe81.65
Testis48.3
TestisGermCell31.55
TestisIntersitial29.3
TestisLeydigCell32
TestisSeminiferousTubule45.9
Thalamus289.3
Thymus41.75
Thyroid181.65
Tongue209.75
Tonsil51.55
Trachea23.05
TrigeminalGanglion26.05
Uterus62.6
UterusCorpus36.55
WholeBlood56.9
Wholebrain402.1
colon41.4
pineal_day608.02
pineal_night446.62
retina176.725
small_intestine47.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P156993
  • 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
Amygdala10.63 ± 0.35
Basal Forebrain10.39 ± 0.22
Basal Part of Pons10.34 ± 0.26
Cerebellar Cortex9.77 ± 0.26
Cerebellar Nuclei10.2 ± 0.46
Claustrum10.43 ± 0.29
Epithalamus9.4 ± 0.72
Frontal Lobe10.23 ± 0.41
Globus Pallidus11.18 ± 0.44
Hypothalamus9.84 ± 0.49
Insula10.21 ± 0.4
Limbic Lobe10.32 ± 0.36
Mesencephalon10.27 ± 0.45
Myelencephalon10.23 ± 0.49
Occipital Lobe10.14 ± 0.47
Parietal Lobe10.29 ± 0.45
Pontine Tegmentum10.29 ± 0.41
Striatum10.5 ± 0.5
Subthalamus10.33 ± 0.38
Temporal Lobe10.22 ± 0.47
Thalamus10.46 ± 0.29
White Matter11.22 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bin1CBCerebellum100
100
Bin1CTXCerebral cortex100
100
Bin1HIPHippocampal region100
100
Bin1HPFHippocampal formation100
100
Bin1HYHypothalamus100
100
Bin1LSXLateral septal complex100
100
Bin1MBMidbrain100
100
Bin1MYMedulla100
100
Bin1OLFOlfactory bulb100
100
Bin1PPons100
100
Bin1PALPallidum100
100
Bin1RHPRetrohippocampal region100
100
Bin1sAMYStriatum-like amygdalar nuclei100
100
Bin1STRStriatum100
100
Bin1STRdStriatum dorsal region100
100
Bin1STRvStriatum ventral region100
100
Bin1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BIN1_HUMAN_118 20 118 137 LVDQALLTMDTYLGQFPDIK PRIDE
BIN1_HUMAN_2 23 2 24 AEMGSKGVTAGKIASNVQKKLTR PRIDE
BIN1_HUMAN_234 20 234 253 VGFYVNTFQSIAGLEENFHK PRIDE
BIN1_HUMAN_311 19 311 329 VNHEPEPAGGATPGATLPK PRIDE
BIN1_HUMAN_515 10 515 524 LDLPPGFMFK PRIDE
PAp00000250 18 36 53 ADETKDEQFEQCVQNFNK 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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