AutismKB 2.0

Annotation Detail for SGCA


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Basic Information Top
Gene Symbol:SGCA ( 50-DAG,A2,ADL,DAG2,DMDA2,LGMD2D,SCARMD1,adhalin )
Gene Full Name: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Band: 17q21.33
Quick LinksEntrez ID:6442; OMIM: 600119; Uniprot ID:SGCA_HUMAN; ENSEMBL ID: ENSG00000108823; HGNC ID: 10805
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 
fetus6 / 56401210
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult35 / 193912118
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal65 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart4 / 8962644
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle24 / 107715222
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210632_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.7
Adipocyte5.4
AdrenalCortex6.35
Adrenalgland4.7
Amygdala5.55
Appendix5.75
AtrioventricularNode4.3
BDCA4+_DentriticCells5.75
Bonemarrow5.8
BronchialEpithelialCells5.35
CD105+_Endothelial5.5
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid6.85
CD34+6.8
CD4+_Tcells5.65
CD56+_NKCells6.15
CD71+_EarlyErythroid5.15
CD8+_Tcells5
CardiacMyocytes7.2
Caudatenucleus4.9
Cerebellum4.4
CerebellumPeduncles6.4
CiliaryGanglion4.05
CingulateCortex5.6
Colorectaladenocarcinoma5.45
DorsalRootGanglion4.35
FetalThyroid5.35
Fetalbrain5.35
Fetalliver4.85
Fetallung4.4
GlobusPallidus4.05
Heart39.45
Hypothalamus5.9
Kidney4.8
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.4
Liver7.55
Lung6.1
Lymphnode4.7
Lymphoma_burkitts(Daudi)7
Lymphoma_burkitts(Raji)7.7
MedullaOblongata4.95
OccipitalLobe4.85
OlfactoryBulb4.35
Ovary3.9
Pancreas4.4
PancreaticIslet5.85
ParietalLobe6.05
Pituitary6.4
Placenta5.6
Pons5.3
PrefrontalCortex6.75
Prostate6.35
Salivarygland4.55
SkeletalMuscle14.05
Skin4.4
SmoothMuscle6.15
Spinalcord5.85
SubthalamicNucleus5.05
SuperiorCervicalGanglion6.3
TemporalLobe5
Testis4.7
TestisGermCell4.5
TestisIntersitial4.65
TestisLeydigCell5.6
TestisSeminiferousTubule4.7
Thalamus5.6
Thymus4.3
Thyroid6.85
Tongue5.8
Tonsil5.35
Trachea4.55
TrigeminalGanglion5.5
Uterus4.5
UterusCorpus5
WholeBlood5.95
Wholebrain4.55
colon5.5
pineal_day7.54
pineal_night6.74
retina6.575
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12473_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
Amygdala2.38 ± 1.25
Basal Forebrain1.99 ± 0.34
Basal Part of Pons1.62 ± 0.64
Cerebellar Cortex2.63 ± 0.54
Cerebellar Nuclei1.98 ± 0.64
Claustrum2.58 ± 0.83
Epithalamus1.53 ± 0.74
Frontal Lobe1.78 ± 0.78
Globus Pallidus1.99 ± 0.91
Hypothalamus1.95 ± 0.7
Insula1.61 ± 0.6
Limbic Lobe1.9 ± 0.72
Mesencephalon2.24 ± 0.84
Myelencephalon1.97 ± 0.81
Occipital Lobe1.93 ± 0.72
Parietal Lobe1.89 ± 0.84
Pontine Tegmentum1.74 ± 0.6
Striatum1.75 ± 0.83
Subthalamus1.86 ± 0.8
Temporal Lobe1.85 ± 0.8
Thalamus1.91 ± 0.67
White Matter1.91 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SgcaCBCerebellum6.81
7.97
SgcaCTXCerebral cortex9.05
6.78
SgcaHIPHippocampal region6.38
5.99
SgcaHPFHippocampal formation7.14
6.23
SgcaHYHypothalamus1.78
1.75
SgcaLSXLateral septal complex0.48
0.8
SgcaMBMidbrain1.84
2.58
SgcaMYMedulla10.24
11.12
SgcaOLFOlfactory bulb18.86
15.22
SgcaPPons7.99
10.25
SgcaPALPallidum5.36
5.41
SgcaRHPRetrohippocampal region8.77
6.91
SgcasAMYStriatum-like amygdalar nuclei4.16
3.16
SgcaSTRStriatum4.69
3.87
SgcaSTRdStriatum dorsal region2.5
2.02
SgcaSTRvStriatum ventral region13.54
10.59
SgcaTHThalamus1.85
2.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SGCA_HUMAN_370 17 370 386 LPPRVDSAQVPLILDQH 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