AutismKB 2.0

Annotation Detail for SH3GL1


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Basic Information Top
Gene Symbol:SH3GL1 ( CNSA1,EEN,MGC111371,SH3D2B,SH3P8 )
Gene Full Name: SH3-domain GRB2-like 1
Band: 19p13.3
Quick LinksEntrez ID:6455; OMIM: 601768; Uniprot ID:SH3G1_HUMAN; ENSEMBL ID: ENSG00000141985; HGNC ID: 10830
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 body7 / 7076198
blastocyst9 / 62319144
fetus26 / 56401246
neonate1 / 3109732
infant2 / 2362084
juvenile1 / 5555617
adult162 / 193912183
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) tumor9 / 9417895
cervical tumor6 / 34366174
chondrosarcoma7 / 8282384
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor21 / 26384579
glioma25 / 106883233
head and neck tumor14 / 136302102
kidney tumor11 / 68959159
leukemia8 / 9584283
liver tumor2 / 9635920
lung tumor11 / 103127106
lymphoma21 / 71755292
non-neoplasia2 / 9725020
normal212 / 336030763
ovarian tumor0 / 766820 
pancreatic tumor39 / 104616372
primitive neuroectodermal tumor of the CNS34 / 125680270
prostate cancer23 / 102680223
retinoblastoma8 / 46356172
skin tumor10 / 12494980
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites6 / 40015149
bladder2 / 2975767
blood13 / 123478105
bone13 / 71655181
bone marrow1 / 4880120
brain70 / 110098963
cervix10 / 48171207
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye19 / 21105490
heart3 / 8962633
intestine15 / 23447263
kidney13 / 21177761
larynx0 / 241450 
liver5 / 20774324
lung16 / 33697447
lymph17 / 44270384
lymph node9 / 9161098
mammary gland12 / 15327178
mouth5 / 6705274
muscle6 / 10771555
nerve3 / 15768190
ovary4 / 10205139
pancreas42 / 214812195
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta38 / 280825135
prostate28 / 189345147
salivary gland8 / 20155396
skin17 / 21057480
spleen4 / 5395274
stomach6 / 9661962
testis24 / 33044272
thymus1 / 8113112
thyroid0 / 474730 
tonsil5 / 16999294
trachea1 / 5241319
umbilical cord0 / 136800 
uterus20 / 23287885
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201851_at
Cell line Expression level Expression bar
721_B_lymphoblasts113.8
Adipocyte96.5
AdrenalCortex83.5
Adrenalgland99.25
Amygdala78.1
Appendix23.75
AtrioventricularNode32.2
BDCA4+_DentriticCells80.6
Bonemarrow68.85
BronchialEpithelialCells117.2
CD105+_Endothelial67.15
CD14+_Monocytes76.6
CD19+_BCells(neg._sel.)61.25
CD33+_Myeloid85.25
CD34+70.55
CD4+_Tcells80.9
CD56+_NKCells71.4
CD71+_EarlyErythroid203.6
CD8+_Tcells91.75
CardiacMyocytes130.95
Caudatenucleus51.2
Cerebellum52.95
CerebellumPeduncles73.65
CiliaryGanglion14.65
CingulateCortex60.85
Colorectaladenocarcinoma97.95
DorsalRootGanglion36.65
FetalThyroid97.1
Fetalbrain83.95
Fetalliver52.15
Fetallung83.9
GlobusPallidus23.65
Heart115.4
Hypothalamus59.65
Kidney46.7
Leukemia_chronicMyelogenousK-56276.95
Leukemia_promyelocytic-HL-6050.75
Leukemialymphoblastic(MOLT-4)49.25
Liver241.05
Lung102.7
Lymphnode56.1
Lymphoma_burkitts(Daudi)86.2
Lymphoma_burkitts(Raji)153.3
MedullaOblongata65
OccipitalLobe59.35
OlfactoryBulb60.85
Ovary31.6
Pancreas52.6
PancreaticIslet58.1
ParietalLobe76.55
Pituitary74.35
Placenta111.9
Pons44.65
PrefrontalCortex82.45
Prostate180
Salivarygland37.05
SkeletalMuscle68.6
Skin43.65
SmoothMuscle169.7
Spinalcord65.3
SubthalamicNucleus46.4
SuperiorCervicalGanglion29.3
TemporalLobe41.65
Testis90.9
TestisGermCell45.2
TestisIntersitial23.9
TestisLeydigCell51.4
TestisSeminiferousTubule59.65
Thalamus60.6
Thymus77.9
Thyroid119.35
Tongue189.95
Tonsil84.45
Trachea71.3
TrigeminalGanglion36.8
Uterus67.25
UterusCorpus54.05
WholeBlood70.75
Wholebrain86.3
colon67.3
pineal_day44.64
pineal_night41.54
retina106.5
small_intestine114.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P208925
  • 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
Amygdala3.69 ± 0.64
Basal Forebrain3.4 ± 0.46
Basal Part of Pons3.47 ± 0.4
Cerebellar Cortex3.88 ± 0.51
Cerebellar Nuclei3.4 ± 0.5
Claustrum3.47 ± 0.76
Epithalamus3.53 ± 0.44
Frontal Lobe3.71 ± 0.54
Globus Pallidus2.81 ± 0.68
Hypothalamus3.4 ± 0.55
Insula3.67 ± 0.67
Limbic Lobe3.72 ± 0.58
Mesencephalon3.69 ± 0.74
Myelencephalon3.64 ± 0.57
Occipital Lobe3.45 ± 0.54
Parietal Lobe3.64 ± 0.65
Pontine Tegmentum3.6 ± 0.56
Striatum3.35 ± 0.61
Subthalamus3.41 ± 0.62
Temporal Lobe3.77 ± 0.54
Thalamus3.5 ± 0.58
White Matter3.33 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh3gl1CBCerebellum22.25
32.9
Sh3gl1CTXCerebral cortex24.49
16.02
Sh3gl1HIPHippocampal region53.93
75.68
Sh3gl1HPFHippocampal formation42.32
50.66
Sh3gl1HYHypothalamus3.79
2.49
Sh3gl1LSXLateral septal complex5.99
3.98
Sh3gl1MBMidbrain9.89
8.18
Sh3gl1MYMedulla14.68
13.59
Sh3gl1OLFOlfactory bulb17.22
11.18
Sh3gl1PPons8.39
6.92
Sh3gl1PALPallidum3.83
2.94
Sh3gl1RHPRetrohippocampal region22.35
16.15
Sh3gl1sAMYStriatum-like amygdalar nuclei7.54
4.6
Sh3gl1STRStriatum8.06
5.25
Sh3gl1STRdStriatum dorsal region8.75
5.94
Sh3gl1STRvStriatum ventral region7.13
4.09
Sh3gl1THThalamus9.61
7.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005923 17 83 99 NPGYPQSEGLLGECMIR Peptide Atlas
SH3G1_HUMAN_103 20 103 122 ELGGESNFGDALLDAGESMK PRIDE
SH3G1_HUMAN_175 10 175 184 QGKIPDEELR PRIDE
SH3G1_HUMAN_228 15 228 242 QAVQILDELAEKLKR PRIDE
SH3G1_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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