AutismKB 2.0

Annotation Detail for SH3BP1


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Basic Information Top
Gene Symbol:SH3BP1 ( ARHGAP43 )
Gene Full Name: SH3-domain binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:23616; OMIM: NA; Uniprot ID:3BP1_HUMAN; ENSEMBL ID: ENSG00000100092; HGNC ID: 10824
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
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult32 / 193912116
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma7 / 10688365
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia0 / 972500 
normal35 / 336030710
ovarian tumor6 / 7668278
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain11 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine10 / 23447242
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary5 / 10205148
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland1 / 2015549
skin2 / 2105749
spleen1 / 5395218
stomach1 / 9661910
testis0 / 3304420 
thymus1 / 8113112
thyroid1 / 4747321
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213633_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.8
Adipocyte4.2
AdrenalCortex4.4
Adrenalgland5.65
Amygdala4.45
Appendix4.2
AtrioventricularNode3.15
BDCA4+_DentriticCells4.65
Bonemarrow4.4
BronchialEpithelialCells4.25
CD105+_Endothelial4.25
CD14+_Monocytes34.4
CD19+_BCells(neg._sel.)4.65
CD33+_Myeloid7.45
CD34+5.4
CD4+_Tcells6.3
CD56+_NKCells9.95
CD71+_EarlyErythroid4
CD8+_Tcells6.5
CardiacMyocytes5.2
Caudatenucleus3.8
Cerebellum3.65
CerebellumPeduncles6.75
CiliaryGanglion3
CingulateCortex4.95
Colorectaladenocarcinoma4.35
DorsalRootGanglion3.2
FetalThyroid4.1
Fetalbrain4.3
Fetalliver3.65
Fetallung3.55
GlobusPallidus3.1
Heart5.25
Hypothalamus4.7
Kidney3.45
Leukemia_chronicMyelogenousK-5623.95
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.85
Liver5.55
Lung4.55
Lymphnode5.45
Lymphoma_burkitts(Daudi)5.4
Lymphoma_burkitts(Raji)7.2
MedullaOblongata4
OccipitalLobe3.85
OlfactoryBulb3.35
Ovary2.75
Pancreas3.35
PancreaticIslet4.55
ParietalLobe4.8
Pituitary5
Placenta4.4
Pons4
PrefrontalCortex5.25
Prostate5
Salivarygland4.95
SkeletalMuscle4.8
Skin3.2
SmoothMuscle4.85
Spinalcord4.55
SubthalamicNucleus4.8
SuperiorCervicalGanglion4.65
TemporalLobe4.3
Testis3.7
TestisGermCell3.65
TestisIntersitial3.55
TestisLeydigCell4.2
TestisSeminiferousTubule3.65
Thalamus4.35
Thymus3.7
Thyroid4.8
Tongue4.1
Tonsil4.1
Trachea3.55
TrigeminalGanglion4.1
Uterus3.35
UterusCorpus3.75
WholeBlood4.75
Wholebrain3.7
colon4.3
pineal_day5.08
pineal_night4.88
retina4.975
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P143692
  • 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
Amygdala3.2 ± 0.81
Basal Forebrain2.63 ± 0.42
Basal Part of Pons2.41 ± 0.27
Cerebellar Cortex3.05 ± 0.44
Cerebellar Nuclei2.8 ± 0.6
Claustrum2.87 ± 0.79
Epithalamus2.2 ± 0.69
Frontal Lobe2.79 ± 0.65
Globus Pallidus2.4 ± 0.8
Hypothalamus2.47 ± 0.57
Insula2.76 ± 0.47
Limbic Lobe2.82 ± 0.66
Mesencephalon2.82 ± 0.71
Myelencephalon2.78 ± 0.67
Occipital Lobe3.04 ± 0.52
Parietal Lobe2.96 ± 0.64
Pontine Tegmentum2.64 ± 0.47
Striatum2.09 ± 0.82
Subthalamus2.54 ± 0.81
Temporal Lobe2.69 ± 0.71
Thalamus2.58 ± 0.68
White Matter2.23 ± 0.22
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
3BP1_HUMAN_0 0 0 0 LLEIQADYHR PRIDE
3BP1_HUMAN_241 13 241 253 SLSSLDTALAELR PRIDE
3BP1_HUMAN_550 14 550 563 SPPETAAPVEDMAR PRIDE
PAp00005223 16 53 68 LQACLQGQSGADMDKR 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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