AutismKB 2.0

Annotation Detail for SH2D4A


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Basic Information Top
Gene Symbol:SH2D4A ( FLJ20967,SH2A )
Gene Full Name: SH2 domain containing 4A
Band: 8p21.3
Quick LinksEntrez ID:63898; OMIM: NA; Uniprot ID:SH24A_HUMAN; ENSEMBL ID: ENSG00000104611; HGNC ID: 26102
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 body0 / 707610 
blastocyst0 / 623190 
fetus9 / 56401215
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult50 / 193912125
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) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor8 / 9635983
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal69 / 336030720
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites4 / 4001599
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain6 / 11009895
cervix3 / 4817162
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye2 / 2110549
heart3 / 8962633
intestine6 / 23447225
kidney7 / 21177733
larynx0 / 241450 
liver14 / 20774367
lung19 / 33697456
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth2 / 6705229
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate4 / 18934521
salivary gland1 / 2015549
skin1 / 2105744
spleen1 / 5395218
stomach7 / 9661972
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219749_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.55
Adipocyte18.8
AdrenalCortex20.25
Adrenalgland16.75
Amygdala19.65
Appendix22.65
AtrioventricularNode19.65
BDCA4+_DentriticCells19.3
Bonemarrow24.55
BronchialEpithelialCells17.7
CD105+_Endothelial16.55
CD14+_Monocytes18.85
CD19+_BCells(neg._sel.)19.45
CD33+_Myeloid23.3
CD34+21.75
CD4+_Tcells19.85
CD56+_NKCells20.95
CD71+_EarlyErythroid18.15
CD8+_Tcells14.85
CardiacMyocytes26.05
Caudatenucleus18.35
Cerebellum15.75
CerebellumPeduncles23
CiliaryGanglion14.15
CingulateCortex20.35
Colorectaladenocarcinoma24.9
DorsalRootGanglion16.1
FetalThyroid18.65
Fetalbrain19.1
Fetalliver17.4
Fetallung15.55
GlobusPallidus14.75
Heart31.7
Hypothalamus19.5
Kidney21.1
Leukemia_chronicMyelogenousK-56217.3
Leukemia_promyelocytic-HL-6017.1
Leukemialymphoblastic(MOLT-4)15.15
Liver27.25
Lung20.8
Lymphnode16.1
Lymphoma_burkitts(Daudi)25.15
Lymphoma_burkitts(Raji)28.05
MedullaOblongata18.5
OccipitalLobe17.3
OlfactoryBulb14.9
Ovary14.1
Pancreas16.9
PancreaticIslet20.85
ParietalLobe21.3
Pituitary29.5
Placenta19.35
Pons24.55
PrefrontalCortex19.85
Prostate21.55
Salivarygland16
SkeletalMuscle34.75
Skin27.05
SmoothMuscle21.45
Spinalcord25.6
SubthalamicNucleus18.1
SuperiorCervicalGanglion29.1
TemporalLobe19.75
Testis16.35
TestisGermCell12.8
TestisIntersitial16.55
TestisLeydigCell19.05
TestisSeminiferousTubule16.25
Thalamus19.8
Thymus14.65
Thyroid23.6
Tongue21
Tonsil18.8
Trachea22.65
TrigeminalGanglion23.4
Uterus14.95
UterusCorpus18.25
WholeBlood20.55
Wholebrain15.5
colon19.15
pineal_day21.62
pineal_night21.02
retina22.85
small_intestine18.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10437_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
Amygdala2.12 ± 0.89
Basal Forebrain1.7 ± 0.31
Basal Part of Pons1.41 ± 0.47
Cerebellar Cortex1.42 ± 0.62
Cerebellar Nuclei1.86 ± 0.7
Claustrum2.39 ± 0.8
Epithalamus1.46 ± 0.52
Frontal Lobe1.44 ± 0.63
Globus Pallidus2.26 ± 0.45
Hypothalamus1.66 ± 0.67
Insula1.46 ± 0.44
Limbic Lobe1.65 ± 0.67
Mesencephalon1.76 ± 0.67
Myelencephalon1.66 ± 0.66
Occipital Lobe1.73 ± 0.68
Parietal Lobe1.56 ± 0.68
Pontine Tegmentum1.66 ± 0.64
Striatum1.84 ± 0.56
Subthalamus1.73 ± 0.63
Temporal Lobe1.53 ± 0.55
Thalamus1.69 ± 0.62
White Matter2.13 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh2d4aCBCerebellum1.77
2.32
Sh2d4aCTXCerebral cortex0.54
0.87
Sh2d4aHIPHippocampal region0.18
0.19
Sh2d4aHPFHippocampal formation0.2
0.21
Sh2d4aHYHypothalamus0.26
0.23
Sh2d4aLSXLateral septal complex1.02
0.64
Sh2d4aMBMidbrain0.49
0.83
Sh2d4aMYMedulla2.58
2.89
Sh2d4aOLFOlfactory bulb1.15
1.68
Sh2d4aPPons2
2.51
Sh2d4aPALPallidum0
0
Sh2d4aRHPRetrohippocampal region0.19
0.2
Sh2d4asAMYStriatum-like amygdalar nuclei0.05
0.09
Sh2d4aSTRStriatum0.15
0.15
Sh2d4aSTRdStriatum dorsal region0.08
0.13
Sh2d4aSTRvStriatum ventral region0.11
0.11
Sh2d4aTHThalamus0.67
0.48
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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