AutismKB 2.0

Annotation Detail for C1GALT1


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Basic Information Top
Gene Symbol:C1GALT1 ( C1GALT,T-synthase )
Gene Full Name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Band: 7p22.1-p21.3
Quick LinksEntrez ID:56913; OMIM: 610555; Uniprot ID:C1GLT_HUMAN; ENSEMBL ID: ENSG00000106392; HGNC ID: 24337
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 body3 / 7076142
blastocyst1 / 6231916
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult46 / 193912123
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 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor12 / 26384545
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal105 / 336030731
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone5 / 7165569
bone marrow3 / 4880161
brain15 / 110098913
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine8 / 23447234
kidney19 / 21177789
larynx1 / 2414541
liver10 / 20774348
lung4 / 33697411
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth2 / 6705229
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta16 / 28082556
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach3 / 9661931
testis1 / 3304423
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219439_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.85
Adipocyte13.9
AdrenalCortex23.25
Adrenalgland12.7
Amygdala19.65
Appendix20.55
AtrioventricularNode19.1
BDCA4+_DentriticCells27.15
Bonemarrow16.75
BronchialEpithelialCells13.85
CD105+_Endothelial18.05
CD14+_Monocytes18.2
CD19+_BCells(neg._sel.)31.1
CD33+_Myeloid18.8
CD34+16.65
CD4+_Tcells14
CD56+_NKCells21.4
CD71+_EarlyErythroid63.6
CD8+_Tcells12.85
CardiacMyocytes38.65
Caudatenucleus13.2
Cerebellum10.8
CerebellumPeduncles20.25
CiliaryGanglion18.5
CingulateCortex16
Colorectaladenocarcinoma14.55
DorsalRootGanglion14.55
FetalThyroid16.2
Fetalbrain13.7
Fetalliver20.5
Fetallung10.95
GlobusPallidus12.8
Heart27.55
Hypothalamus20.65
Kidney15.4
Leukemia_chronicMyelogenousK-56213.9
Leukemia_promyelocytic-HL-6013.15
Leukemialymphoblastic(MOLT-4)10.35
Liver24.1
Lung14.2
Lymphnode13
Lymphoma_burkitts(Daudi)22.35
Lymphoma_burkitts(Raji)26.3
MedullaOblongata13.05
OccipitalLobe13.2
OlfactoryBulb10.5
Ovary11.25
Pancreas12.6
PancreaticIslet16.15
ParietalLobe23.8
Pituitary18.15
Placenta13.55
Pons13.95
PrefrontalCortex16.9
Prostate14.35
Salivarygland13.45
SkeletalMuscle34.5
Skin16.4
SmoothMuscle17.25
Spinalcord25.4
SubthalamicNucleus14.55
SuperiorCervicalGanglion24.5
TemporalLobe14.3
Testis11.8
TestisGermCell11.2
TestisIntersitial11.55
TestisLeydigCell15.95
TestisSeminiferousTubule12.45
Thalamus15.9
Thymus9.95
Thyroid16.65
Tongue18.95
Tonsil15.25
Trachea13.8
TrigeminalGanglion20.75
Uterus9.75
UterusCorpus17
WholeBlood24.65
Wholebrain11.1
colon14.65
pineal_day28.96
pineal_night28.16
retina18.95
small_intestine19.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16059_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
Amygdala6.93 ± 0.38
Basal Forebrain7.4 ± 0.16
Basal Part of Pons7.2 ± 0.35
Cerebellar Cortex7.15 ± 0.19
Cerebellar Nuclei7.6 ± 0.33
Claustrum6.86 ± 0.46
Epithalamus8.05 ± 0.37
Frontal Lobe7.35 ± 0.34
Globus Pallidus8.04 ± 0.29
Hypothalamus7.36 ± 0.25
Insula7.44 ± 0.34
Limbic Lobe7.1 ± 0.41
Mesencephalon7.36 ± 0.41
Myelencephalon7.28 ± 0.42
Occipital Lobe7.01 ± 0.34
Parietal Lobe7.19 ± 0.29
Pontine Tegmentum7.37 ± 0.34
Striatum7.26 ± 0.29
Subthalamus7.62 ± 0.18
Temporal Lobe7.28 ± 0.32
Thalamus7.36 ± 0.34
White Matter9.04 ± 0.29
Mouse Brain ISH
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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