AutismKB 2.0

Annotation Detail for SH3PXD2A


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Basic Information Top
Gene Symbol:SH3PXD2A ( FISH,SH3MD1,TSK5 )
Gene Full Name: SH3 and PX domains 2A
Band: 10q24.33
Quick LinksEntrez ID:9644; OMIM: NA; Uniprot ID:SPD2A_HUMAN; ENSEMBL ID: ENSG00000107957; HGNC ID: 23664
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 body6 / 7076184
blastocyst3 / 6231948
fetus38 / 56401267
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult88 / 193912145
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 
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal160 / 336030747
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
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 
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain54 / 110098949
cervix5 / 48171103
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye10 / 21105447
heart9 / 89626100
intestine7 / 23447229
kidney6 / 21177728
larynx2 / 2414582
liver5 / 20774324
lung15 / 33697444
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth5 / 6705274
muscle7 / 10771564
nerve0 / 157680 
ovary5 / 10205148
pancreas8 / 21481237
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta17 / 28082560
prostate7 / 18934536
salivary gland0 / 201550 
skin14 / 21057466
spleen1 / 5395218
stomach2 / 9661920
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207661_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte8.3
AdrenalCortex11.45
Adrenalgland7.7
Amygdala9.15
Appendix10.8
AtrioventricularNode9.3
BDCA4+_DentriticCells8.95
Bonemarrow9.15
BronchialEpithelialCells8.6
CD105+_Endothelial8.8
CD14+_Monocytes9.25
CD19+_BCells(neg._sel.)9.05
CD33+_Myeloid11.2
CD34+10.65
CD4+_Tcells9.05
CD56+_NKCells10
CD71+_EarlyErythroid8.3
CD8+_Tcells8.1
CardiacMyocytes12.9
Caudatenucleus7.9
Cerebellum7.15
CerebellumPeduncles10.3
CiliaryGanglion10.55
CingulateCortex9.9
Colorectaladenocarcinoma8.75
DorsalRootGanglion8.55
FetalThyroid8.7
Fetalbrain8.35
Fetalliver7.8
Fetallung6.65
GlobusPallidus6.85
Heart16.35
Hypothalamus8.75
Kidney7.45
Leukemia_chronicMyelogenousK-5627.85
Leukemia_promyelocytic-HL-607.55
Leukemialymphoblastic(MOLT-4)6.55
Liver14
Lung9.4
Lymphnode7.25
Lymphoma_burkitts(Daudi)11.35
Lymphoma_burkitts(Raji)14.2
MedullaOblongata7.95
OccipitalLobe7.8
OlfactoryBulb6.85
Ovary6.9
Pancreas7.1
PancreaticIslet9.2
ParietalLobe9.6
Pituitary10.2
Placenta9.2
Pons9.3
PrefrontalCortex10.95
Prostate9.5
Salivarygland7.45
SkeletalMuscle17.35
Skin10.6
SmoothMuscle9.95
Spinalcord9.3
SubthalamicNucleus8.65
SuperiorCervicalGanglion11.8
TemporalLobe8.15
Testis7.3
TestisGermCell6.85
TestisIntersitial7.65
TestisLeydigCell10.3
TestisSeminiferousTubule7.5
Thalamus9.05
Thymus6.7
Thyroid10.35
Tongue10.75
Tonsil8.9
Trachea7.15
TrigeminalGanglion13.25
Uterus8.2
UterusCorpus9.35
WholeBlood9.35
Wholebrain6.7
colon8.85
pineal_day10.84
pineal_night10.72
retina10.425
small_intestine8.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P345220
  • 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
Amygdala6.35 ± 0.38
Basal Forebrain6.99 ± 0.41
Basal Part of Pons7.16 ± 0.38
Cerebellar Cortex6.49 ± 0.21
Cerebellar Nuclei7.4 ± 0.19
Claustrum7.11 ± 0.43
Epithalamus6.72 ± 0.41
Frontal Lobe6.72 ± 0.53
Globus Pallidus8.2 ± 0.32
Hypothalamus6.05 ± 0.45
Insula6.61 ± 0.24
Limbic Lobe6.72 ± 0.43
Mesencephalon6.96 ± 0.59
Myelencephalon6.84 ± 0.52
Occipital Lobe7 ± 0.39
Parietal Lobe6.9 ± 0.43
Pontine Tegmentum6.82 ± 0.51
Striatum6.87 ± 0.56
Subthalamus7.15 ± 0.36
Temporal Lobe6.87 ± 0.39
Thalamus7.18 ± 0.33
White Matter8.75 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh3pxd2aCBCerebellum30.17
39.45
Sh3pxd2aCTXCerebral cortex60.37
48.33
Sh3pxd2aHIPHippocampal region29.11
30.23
Sh3pxd2aHPFHippocampal formation32.72
31.87
Sh3pxd2aHYHypothalamus4.51
3.62
Sh3pxd2aLSXLateral septal complex19.01
14.37
Sh3pxd2aMBMidbrain22.02
20.61
Sh3pxd2aMYMedulla20.41
22.23
Sh3pxd2aOLFOlfactory bulb58.33
54.42
Sh3pxd2aPPons17.69
19.42
Sh3pxd2aPALPallidum15.53
16.13
Sh3pxd2aRHPRetrohippocampal region37.45
32.3
Sh3pxd2asAMYStriatum-like amygdalar nuclei40.52
36.42
Sh3pxd2aSTRStriatum38.54
31.7
Sh3pxd2aSTRdStriatum dorsal region41.32
34.88
Sh3pxd2aSTRvStriatum ventral region32.98
23.09
Sh3pxd2aTHThalamus16.7
14.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00131518 21 305 325 NLAGPVEIIGNIMEISNLLNK 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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