AutismKB 2.0

Annotation Detail for SH3GL2


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Basic Information Top
Gene Symbol:SH3GL2 ( CNSA2,EEN-B1,FLJ20276,FLJ25015,SH3D2A,SH3P4 )
Gene Full Name: SH3-domain GRB2-like 2
Band: 9p22.2
Quick LinksEntrez ID:6456; OMIM: 604465; Uniprot ID:SH3G2_HUMAN; ENSEMBL ID: ENSG00000107295; HGNC ID: 10831
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 
fetus76 / 564012134
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult24 / 193912112
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor12 / 68959174
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal305 / 336030790
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
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 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain300 / 1100989272
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine0 / 2344720 
kidney15 / 21177770
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis9 / 33044227
thymus1 / 8113112
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: 205751_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.2
Adipocyte5.4
AdrenalCortex6.3
Adrenalgland4.9
Amygdala704.25
Appendix6
AtrioventricularNode4.85
BDCA4+_DentriticCells5.45
Bonemarrow5.7
BronchialEpithelialCells5.4
CD105+_Endothelial5.5
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid6.8
CD34+6.75
CD4+_Tcells5.65
CD56+_NKCells6.35
CD71+_EarlyErythroid5.1
CD8+_Tcells5.05
CardiacMyocytes7.7
Caudatenucleus149.35
Cerebellum567.65
CerebellumPeduncles625.95
CiliaryGanglion4.95
CingulateCortex590.5
Colorectaladenocarcinoma5.45
DorsalRootGanglion4.8
FetalThyroid5.35
Fetalbrain160.6
Fetalliver4.8
Fetallung4.5
GlobusPallidus290
Heart8.35
Hypothalamus266.5
Kidney5.25
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.3
Liver7.75
Lung6.1
Lymphnode4.65
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)7.95
MedullaOblongata414.6
OccipitalLobe412
OlfactoryBulb4.35
Ovary3.8
Pancreas4.5
PancreaticIslet34.85
ParietalLobe383.7
Pituitary46.7
Placenta5.55
Pons164.85
PrefrontalCortex974.05
Prostate6.35
Salivarygland4.45
SkeletalMuscle7.65
Skin4.75
SmoothMuscle6.2
Spinalcord102.6
SubthalamicNucleus504.45
SuperiorCervicalGanglion7.3
TemporalLobe409.05
Testis4.8
TestisGermCell4.7
TestisIntersitial4.75
TestisLeydigCell5.6
TestisSeminiferousTubule4.8
Thalamus389.85
Thymus4.25
Thyroid6.8
Tongue5.8
Tonsil5.3
Trachea4.6
TrigeminalGanglion6.25
Uterus4.4
UterusCorpus5.25
WholeBlood6.05
Wholebrain550.25
colon5.5
pineal_day195.1
pineal_night185.62
retina27.3
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10871_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
Amygdala7.99 ± 0.63
Basal Forebrain6.7 ± 0.22
Basal Part of Pons8.02 ± 0.36
Cerebellar Cortex8.14 ± 0.16
Cerebellar Nuclei8.22 ± 0.5
Claustrum8.43 ± 0.41
Epithalamus6.73 ± 0.57
Frontal Lobe7.58 ± 0.47
Globus Pallidus6.7 ± 0.27
Hypothalamus6.99 ± 0.32
Insula7.63 ± 0.33
Limbic Lobe7.97 ± 0.53
Mesencephalon7.32 ± 0.63
Myelencephalon7.57 ± 0.51
Occipital Lobe8.17 ± 0.45
Parietal Lobe7.8 ± 0.45
Pontine Tegmentum7.69 ± 0.64
Striatum6.54 ± 0.53
Subthalamus7.72 ± 0.13
Temporal Lobe7.81 ± 0.33
Thalamus7.67 ± 0.44
White Matter5.19 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh3gl2CBCerebellum100
100
Sh3gl2CTXCerebral cortex100
100
Sh3gl2HIPHippocampal region94.92
100
Sh3gl2HPFHippocampal formation100
100
Sh3gl2HYHypothalamus74.21
75.65
Sh3gl2LSXLateral septal complex59.42
61.61
Sh3gl2MBMidbrain81.53
91.77
Sh3gl2MYMedulla71.75
99.66
Sh3gl2OLFOlfactory bulb94.94
100
Sh3gl2PPons80.72
100
Sh3gl2PALPallidum68.78
74.35
Sh3gl2RHPRetrohippocampal region100
100
Sh3gl2sAMYStriatum-like amygdalar nuclei93.92
100
Sh3gl2STRStriatum59.9
68.32
Sh3gl2STRdStriatum dorsal region44.09
50.91
Sh3gl2STRvStriatum ventral region61.05
61.53
Sh3gl2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00076643 7 165 171 RLDFDYK Peptide Atlas
SH3G2_HUMAN_53 12 53 64 TIEYLQPNPASR 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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