AutismKB 2.0

Annotation Detail for GM2A


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Basic Information Top
Gene Symbol:GM2A ( SAP-3 )
Gene Full Name: GM2 ganglioside activator
Band: 5q33.1
Quick LinksEntrez ID:2760; OMIM: 613109; Uniprot ID:SAP3_HUMAN; ENSEMBL ID: ENSG00000196743; HGNC ID: 4367
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 
fetus32 / 56401256
neonate17 / 31097546
infant0 / 236200 
juvenile4 / 5555671
adult135 / 193912169
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) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor20 / 26384575
glioma17 / 106883159
head and neck tumor18 / 136302132
kidney tumor8 / 68959116
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma7 / 7175597
non-neoplasia9 / 9725092
normal299 / 336030788
ovarian tumor5 / 7668265
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor20 / 124949160
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder0 / 297570 
blood25 / 123478202
bone6 / 7165583
bone marrow2 / 4880140
brain89 / 110098980
cervix5 / 48171103
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart6 / 8962666
intestine16 / 23447268
kidney15 / 21177770
larynx1 / 2414541
liver2 / 2077439
lung31 / 33697491
lymph4 / 4427090
lymph node6 / 9161065
mammary gland5 / 15327132
mouth12 / 67052178
muscle2 / 10771518
nerve0 / 157680 
ovary7 / 10205168
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx8 / 41328193
pituitary gland0 / 165850 
placenta45 / 280825160
prostate11 / 18934558
salivary gland1 / 2015549
skin29 / 210574137
spleen16 / 53952296
stomach6 / 9661962
testis22 / 33044266
thymus7 / 8113186
thyroid3 / 4747363
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus14 / 23287860
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212737_at
Cell line Expression level Expression bar
721_B_lymphoblasts808.9
Adipocyte83.95
AdrenalCortex24.85
Adrenalgland132.15
Amygdala31.45
Appendix19.85
AtrioventricularNode15.35
BDCA4+_DentriticCells395.75
Bonemarrow68.6
BronchialEpithelialCells1095.8
CD105+_Endothelial46.55
CD14+_Monocytes653.65
CD19+_BCells(neg._sel.)710.05
CD33+_Myeloid551.7
CD34+145.1
CD4+_Tcells19.8
CD56+_NKCells44.95
CD71+_EarlyErythroid4.5
CD8+_Tcells19.6
CardiacMyocytes52.25
Caudatenucleus29.05
Cerebellum25.5
CerebellumPeduncles37.4
CiliaryGanglion15.9
CingulateCortex23.4
Colorectaladenocarcinoma21.85
DorsalRootGanglion18.65
FetalThyroid43.3
Fetalbrain8.55
Fetalliver19.45
Fetallung38.05
GlobusPallidus16.25
Heart67.65
Hypothalamus85.35
Kidney19.75
Leukemia_chronicMyelogenousK-56227.7
Leukemia_promyelocytic-HL-60165.85
Leukemialymphoblastic(MOLT-4)31.75
Liver26.95
Lung330.05
Lymphnode285.75
Lymphoma_burkitts(Daudi)317.75
Lymphoma_burkitts(Raji)237.35
MedullaOblongata27.8
OccipitalLobe32.85
OlfactoryBulb78.6
Ovary13.75
Pancreas34.4
PancreaticIslet32.85
ParietalLobe29.5
Pituitary27
Placenta1940.3
Pons24.15
PrefrontalCortex25.5
Prostate69.1
Salivarygland18.9
SkeletalMuscle25.95
Skin40.55
SmoothMuscle87.85
Spinalcord156.95
SubthalamicNucleus24.2
SuperiorCervicalGanglion24.3
TemporalLobe20.65
Testis57.65
TestisGermCell39.2
TestisIntersitial19.25
TestisLeydigCell26.15
TestisSeminiferousTubule41.6
Thalamus62.1
Thymus77.6
Thyroid26.05
Tongue155.15
Tonsil191.3
Trachea29.35
TrigeminalGanglion25.9
Uterus19.2
UterusCorpus20.2
WholeBlood61.05
Wholebrain55.8
colon41.75
pineal_day45.24
pineal_night38.82
retina93.05
small_intestine76.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P925314
  • 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
Amygdala6.87 ± 0.44
Basal Forebrain7.33 ± 0.22
Basal Part of Pons6.81 ± 0.28
Cerebellar Cortex6.6 ± 0.19
Cerebellar Nuclei7.25 ± 0.47
Claustrum6.91 ± 0.34
Epithalamus7.41 ± 0.22
Frontal Lobe6.74 ± 0.43
Globus Pallidus8.13 ± 0.21
Hypothalamus6.8 ± 0.53
Insula6.5 ± 0.27
Limbic Lobe6.59 ± 0.45
Mesencephalon7.04 ± 0.52
Myelencephalon6.92 ± 0.39
Occipital Lobe7.18 ± 0.39
Parietal Lobe6.89 ± 0.3
Pontine Tegmentum6.87 ± 0.45
Striatum7.3 ± 0.4
Subthalamus7.1 ± 0.14
Temporal Lobe6.68 ± 0.35
Thalamus7.12 ± 0.27
White Matter8.39 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gm2aCBCerebellum17.99
26.88
Gm2aCTXCerebral cortex10.72
6.63
Gm2aHIPHippocampal region5.4
4.57
Gm2aHPFHippocampal formation5.77
4.32
Gm2aHYHypothalamus1.81
1.47
Gm2aLSXLateral septal complex2.7
2.06
Gm2aMBMidbrain2.36
2.43
Gm2aMYMedulla8.51
9
Gm2aOLFOlfactory bulb9.14
5.29
Gm2aPPons4.66
4.33
Gm2aPALPallidum2.8
2.21
Gm2aRHPRetrohippocampal region6.22
3.98
Gm2asAMYStriatum-like amygdalar nuclei4.82
3.29
Gm2aSTRStriatum4.97
3.59
Gm2aSTRdStriatum dorsal region4.44
3.32
Gm2aSTRvStriatum ventral region6.91
3.81
Gm2aTHThalamus4.1
3.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010131 16 34 49 FSWDNCDEGKDPAVIR 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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