AutismKB 2.0

Annotation Detail for SH3BP4


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Basic Information Top
Gene Symbol:SH3BP4 ( BOG25,TTP )
Gene Full Name: SH3-domain binding protein 4
Band: 2q37.2
Quick LinksEntrez ID:23677; OMIM: 605611; Uniprot ID:SH3B4_HUMAN; ENSEMBL ID: ENSG00000130147; HGNC ID: 10826
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 body10 / 70761141
blastocyst1 / 6231916
fetus26 / 56401246
neonate2 / 3109764
infant0 / 236200 
juvenile5 / 5555689
adult97 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor15 / 94178159
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor9 / 13630266
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor11 / 96359114
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal135 / 336030740
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer13 / 102680126
retinoblastoma2 / 4635643
skin tumor15 / 124949120
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain24 / 110098921
cervix1 / 4817120
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye11 / 21105452
heart9 / 89626100
intestine9 / 23447238
kidney15 / 21177770
larynx2 / 2414582
liver13 / 20774362
lung26 / 33697477
lymph0 / 442700 
lymph node0 / 916100 
mammary gland19 / 153271123
mouth8 / 67052119
muscle3 / 10771527
nerve1 / 1576863
ovary3 / 10205129
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta4 / 28082514
prostate16 / 18934584
salivary gland0 / 201550 
skin24 / 210574113
spleen0 / 539520 
stomach4 / 9661941
testis9 / 33044227
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord2 / 13680146
uterus15 / 23287864
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 222258_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.35
Adipocyte30.85
AdrenalCortex9.65
Adrenalgland21.55
Amygdala29
Appendix9.05
AtrioventricularNode6
BDCA4+_DentriticCells101.6
Bonemarrow7.85
BronchialEpithelialCells72.4
CD105+_Endothelial5.55
CD14+_Monocytes8.4
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid10.9
CD34+22.6
CD4+_Tcells7.4
CD56+_NKCells4.45
CD71+_EarlyErythroid2.45
CD8+_Tcells6.15
CardiacMyocytes87.7
Caudatenucleus13.65
Cerebellum6.45
CerebellumPeduncles8.7
CiliaryGanglion8.75
CingulateCortex15.8
Colorectaladenocarcinoma59.65
DorsalRootGanglion7.95
FetalThyroid18.7
Fetalbrain8.8
Fetalliver8.75
Fetallung23.2
GlobusPallidus6.85
Heart11.75
Hypothalamus42.35
Kidney37.65
Leukemia_chronicMyelogenousK-5626.8
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)4.35
Liver48.65
Lung64.85
Lymphnode6.25
Lymphoma_burkitts(Daudi)9.6
Lymphoma_burkitts(Raji)11.2
MedullaOblongata16.25
OccipitalLobe9.35
OlfactoryBulb10.3
Ovary5.25
Pancreas35.65
PancreaticIslet65.7
ParietalLobe14.1
Pituitary11
Placenta72.65
Pons9.1
PrefrontalCortex22.45
Prostate91.85
Salivarygland143.4
SkeletalMuscle9.45
Skin15.1
SmoothMuscle155.75
Spinalcord11.1
SubthalamicNucleus7.25
SuperiorCervicalGanglion10.3
TemporalLobe6.95
Testis24.25
TestisGermCell40.25
TestisIntersitial8.8
TestisLeydigCell9.8
TestisSeminiferousTubule14.2
Thalamus18.1
Thymus6.2
Thyroid19.05
Tongue7.9
Tonsil7.7
Trachea112.75
TrigeminalGanglion8.1
Uterus12.95
UterusCorpus11.9
WholeBlood7.55
Wholebrain9.95
colon20.65
pineal_day9.38
pineal_night9.02
retina32.45
small_intestine77.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1327_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
Amygdala2.82 ± 0.98
Basal Forebrain2.02 ± 0.51
Basal Part of Pons2.17 ± 0.83
Cerebellar Cortex1.64 ± 0.62
Cerebellar Nuclei2.71 ± 0.59
Claustrum2.51 ± 0.78
Epithalamus1.83 ± 0.78
Frontal Lobe2.09 ± 0.81
Globus Pallidus3.72 ± 0.45
Hypothalamus2.08 ± 0.95
Insula1.81 ± 1.08
Limbic Lobe2.28 ± 0.92
Mesencephalon2.25 ± 0.91
Myelencephalon2.28 ± 0.85
Occipital Lobe2.22 ± 0.84
Parietal Lobe2.38 ± 0.98
Pontine Tegmentum2.33 ± 0.9
Striatum2.66 ± 0.78
Subthalamus2.08 ± 0.07
Temporal Lobe2.14 ± 0.93
Thalamus2.35 ± 0.7
White Matter4.16 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh3bp4CBCerebellum5.11
5.7
Sh3bp4CTXCerebral cortex26.41
13.22
Sh3bp4HIPHippocampal region25.6
24.19
Sh3bp4HPFHippocampal formation37.81
27.89
Sh3bp4HYHypothalamus15.37
7.58
Sh3bp4LSXLateral septal complex16.6
8.92
Sh3bp4MBMidbrain7.14
4.93
Sh3bp4MYMedulla9.67
6.7
Sh3bp4OLFOlfactory bulb68.02
42.7
Sh3bp4PPons10.44
6.61
Sh3bp4PALPallidum12.85
7.21
Sh3bp4RHPRetrohippocampal region55.89
32.75
Sh3bp4sAMYStriatum-like amygdalar nuclei13.85
5.93
Sh3bp4STRStriatum15.74
8.09
Sh3bp4STRdStriatum dorsal region13.4
6.77
Sh3bp4STRvStriatum ventral region22.7
12.23
Sh3bp4THThalamus48.2
26.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SH3B4_HUMAN_115 22 115 136 NSTLSDSGMIDNLPDSPDEVAK 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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