AutismKB 2.0

Annotation Detail for GALC


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Basic Information Top
Gene Symbol:GALC ( - )
Gene Full Name: galactosylceramidase
Band: 14q31.3
Quick LinksEntrez ID:2581; OMIM: 606890; Uniprot ID:GALC_HUMAN; ENSEMBL ID: ENSG00000054983; HGNC ID: 4115
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 body2 / 7076128
blastocyst3 / 6231948
fetus21 / 56401237
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult78 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor8 / 11936967
germ cell tumor20 / 26384575
glioma5 / 10688346
head and neck tumor1 / 1363027
kidney tumor7 / 68959101
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia14 / 97250143
normal319 / 336030794
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor2 / 12494916
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 gland9 / 33197271
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow1 / 4880120
brain230 / 1100989208
cervix0 / 481710 
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus2 / 2020998
eye2 / 2110549
heart1 / 8962611
intestine4 / 23447217
kidney12 / 21177756
larynx0 / 241450 
liver7 / 20774333
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland5 / 16585301
placenta15 / 28082553
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach7 / 9661972
testis74 / 330442223
thymus12 / 81131147
thyroid1 / 4747321
tonsil0 / 169990 
trachea48 / 52413915
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204417_at
Cell line Expression level Expression bar
721_B_lymphoblasts15.5
Adipocyte11.95
AdrenalCortex15.05
Adrenalgland27.5
Amygdala95.5
Appendix14.55
AtrioventricularNode15.65
BDCA4+_DentriticCells62.55
Bonemarrow11.85
BronchialEpithelialCells11.35
CD105+_Endothelial79.4
CD14+_Monocytes134.95
CD19+_BCells(neg._sel.)12.2
CD33+_Myeloid228.25
CD34+125.6
CD4+_Tcells80.55
CD56+_NKCells553.35
CD71+_EarlyErythroid116.1
CD8+_Tcells137.6
CardiacMyocytes20.4
Caudatenucleus50.35
Cerebellum7.35
CerebellumPeduncles14.75
CiliaryGanglion11.6
CingulateCortex32.85
Colorectaladenocarcinoma8.4
DorsalRootGanglion13.1
FetalThyroid26.65
Fetalbrain22.05
Fetalliver11.2
Fetallung24.7
GlobusPallidus15.3
Heart10.7
Hypothalamus196.6
Kidney9.2
Leukemia_chronicMyelogenousK-56236.5
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)6
Liver14.2
Lung12.75
Lymphnode34.9
Lymphoma_burkitts(Daudi)13.75
Lymphoma_burkitts(Raji)12.4
MedullaOblongata32.75
OccipitalLobe46.45
OlfactoryBulb137.25
Ovary8.1
Pancreas10.6
PancreaticIslet33.85
ParietalLobe41.5
Pituitary34.25
Placenta27.6
Pons10.4
PrefrontalCortex99
Prostate32.4
Salivarygland11.8
SkeletalMuscle12.65
Skin9.95
SmoothMuscle29.35
Spinalcord176.05
SubthalamicNucleus20.05
SuperiorCervicalGanglion18
TemporalLobe14.25
Testis18.05
TestisGermCell73.55
TestisIntersitial15.35
TestisLeydigCell15.65
TestisSeminiferousTubule48.1
Thalamus67.75
Thymus6.95
Thyroid105.45
Tongue12
Tonsil9.8
Trachea17.3
TrigeminalGanglion16.05
Uterus15.45
UterusCorpus9.5
WholeBlood84.65
Wholebrain38.2
colon40.65
pineal_day110.46
pineal_night86.98
retina125.075
small_intestine99.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_787_PI416573500
  • 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
Amygdala5.31 ± 0.4
Basal Forebrain5.86 ± 0.25
Basal Part of Pons5.42 ± 0.5
Cerebellar Cortex5.6 ± 0.34
Cerebellar Nuclei5.65 ± 0.47
Claustrum4.99 ± 0.76
Epithalamus6.49 ± 0.49
Frontal Lobe5.47 ± 0.54
Globus Pallidus6.13 ± 0.28
Hypothalamus5.74 ± 0.4
Insula5.46 ± 0.23
Limbic Lobe5.26 ± 0.48
Mesencephalon5.55 ± 0.54
Myelencephalon5.49 ± 0.57
Occipital Lobe5.37 ± 0.54
Parietal Lobe5.54 ± 0.57
Pontine Tegmentum5.7 ± 0.54
Striatum5.47 ± 0.46
Subthalamus5.22 ± 0.82
Temporal Lobe5.57 ± 0.4
Thalamus5.7 ± 0.43
White Matter7.26 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GalcCBCerebellum3.57
4
GalcCTXCerebral cortex4.03
3.01
GalcHIPHippocampal region7.01
6.3
GalcHPFHippocampal formation6.6
5.53
GalcHYHypothalamus1.48
1.18
GalcLSXLateral septal complex2.23
1.57
GalcMBMidbrain1.5
1.77
GalcMYMedulla2.88
3.62
GalcOLFOlfactory bulb7.6
6.26
GalcPPons2.3
2.91
GalcPALPallidum1.59
1.2
GalcRHPRetrohippocampal region5.93
4.5
GalcsAMYStriatum-like amygdalar nuclei4.11
2.74
GalcSTRStriatum1.44
1.09
GalcSTRdStriatum dorsal region0.73
0.63
GalcSTRvStriatum ventral region2.24
1.61
GalcTHThalamus1.11
0.94
Peptide Top

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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