AutismKB 2.0

Annotation Detail for SH2D2A


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Basic Information Top
Gene Symbol:SH2D2A ( F2771,SCAP,TSAD,VRAP )
Gene Full Name: SH2 domain containing 2A
Band: 1q23.1
Quick LinksEntrez ID:9047; OMIM: 604514; Uniprot ID:SH22A_HUMAN; ENSEMBL ID: ENSG00000027869; HGNC ID: 10821
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 
blastocyst1 / 6231916
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult34 / 193912117
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal55 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood20 / 123478161
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine6 / 23447225
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung8 / 33697423
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach7 / 9661972
testis1 / 3304423
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207351_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.55
AdrenalCortex4.8
Adrenalgland4
Amygdala4.8
Appendix5
AtrioventricularNode5.45
BDCA4+_DentriticCells4.6
Bonemarrow4.75
BronchialEpithelialCells4.5
CD105+_Endothelial4.25
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.35
CD34+5.9
CD4+_Tcells10
CD56+_NKCells146.35
CD71+_EarlyErythroid4.2
CD8+_Tcells14.35
CardiacMyocytes5.8
Caudatenucleus4.15
Cerebellum7.8
CerebellumPeduncles5.3
CiliaryGanglion3.2
CingulateCortex6.1
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.6
FetalThyroid4.5
Fetalbrain4.65
Fetalliver8.85
Fetallung3.85
GlobusPallidus3.4
Heart7.25
Hypothalamus5.05
Kidney5.15
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.7
Liver6.05
Lung5.1
Lymphnode6.7
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)7.05
MedullaOblongata4.2
OccipitalLobe4.1
OlfactoryBulb3.7
Ovary3.15
Pancreas3.75
PancreaticIslet4.9
ParietalLobe4.85
Pituitary5.3
Placenta4.7
Pons4.45
PrefrontalCortex5.7
Prostate5.45
Salivarygland3.7
SkeletalMuscle5.25
Skin3.55
SmoothMuscle5.1
Spinalcord4.9
SubthalamicNucleus4.2
SuperiorCervicalGanglion6.6
TemporalLobe4.2
Testis4
TestisGermCell3.85
TestisIntersitial3.9
TestisLeydigCell4.45
TestisSeminiferousTubule3.9
Thalamus4.7
Thymus5.65
Thyroid5.75
Tongue4.5
Tonsil5.7
Trachea5.7
TrigeminalGanglion4.55
Uterus3.75
UterusCorpus4.1
WholeBlood13.35
Wholebrain3.9
colon4.65
pineal_day447.02
pineal_night512.24
retina5.375
small_intestine4.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14057_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
Amygdala7.34 ± 0.26
Basal Forebrain7.62 ± 0.35
Basal Part of Pons7.57 ± 0.44
Cerebellar Cortex7.08 ± 0.21
Cerebellar Nuclei6.99 ± 0.15
Claustrum7.14 ± 0.28
Epithalamus7.42 ± 0.34
Frontal Lobe7.6 ± 0.49
Globus Pallidus8.24 ± 0.3
Hypothalamus7.45 ± 0.53
Insula7.42 ± 0.29
Limbic Lobe7.48 ± 0.48
Mesencephalon7.78 ± 0.53
Myelencephalon7.63 ± 0.45
Occipital Lobe7.35 ± 0.43
Parietal Lobe7.66 ± 0.45
Pontine Tegmentum7.38 ± 0.43
Striatum7.73 ± 0.43
Subthalamus7.09 ± 0.37
Temporal Lobe7.6 ± 0.41
Thalamus7.85 ± 0.45
White Matter6.52 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh2d2aCBCerebellum23.1
27.28
Sh2d2aCTXCerebral cortex32.76
22.98
Sh2d2aHIPHippocampal region19.72
22.6
Sh2d2aHPFHippocampal formation16.47
16.41
Sh2d2aHYHypothalamus24.12
17.45
Sh2d2aLSXLateral septal complex11.27
7.79
Sh2d2aMBMidbrain15.11
13.21
Sh2d2aMYMedulla20.83
21.21
Sh2d2aOLFOlfactory bulb47.53
36.71
Sh2d2aPPons24.89
24.64
Sh2d2aPALPallidum18.04
14.53
Sh2d2aRHPRetrohippocampal region10.24
7.25
Sh2d2asAMYStriatum-like amygdalar nuclei20.28
15.84
Sh2d2aSTRStriatum20.02
14.01
Sh2d2aSTRdStriatum dorsal region17
12.11
Sh2d2aSTRvStriatum ventral region35.63
22.36
Sh2d2aTHThalamus29.59
23.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00428836 12 133 144 HVVLGEDSAHAR 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