AutismKB 2.0

Annotation Detail for B4GALNT1


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Basic Information Top
Gene Symbol:B4GALNT1 ( GALGT,GALNACT )
Gene Full Name: beta-1,4-N-acetyl-galactosaminyl transferase 1
Band: 12q13.3
Quick LinksEntrez ID:2583; OMIM: 601873; Uniprot ID:B4GN1_HUMAN; ENSEMBL ID: ENSG00000135454; HGNC ID: 4117
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 
fetus43 / 56401276
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult61 / 193912131
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor16 / 26384560
glioma21 / 106883196
head and neck tumor15 / 136302110
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal167 / 336030749
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
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 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone6 / 7165583
bone marrow1 / 4880120
brain170 / 1100989154
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine4 / 23447217
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth15 / 67052223
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate7 / 18934536
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach3 / 9661931
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206435_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.45
Adipocyte4.45
AdrenalCortex4.85
Adrenalgland3.8
Amygdala5.1
Appendix4.7
AtrioventricularNode3.45
BDCA4+_DentriticCells4.75
Bonemarrow4.4
BronchialEpithelialCells4.4
CD105+_Endothelial4.5
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.8
CD34+5.6
CD4+_Tcells4.75
CD56+_NKCells5.4
CD71+_EarlyErythroid4.2
CD8+_Tcells4.35
CardiacMyocytes5.75
Caudatenucleus4.1
Cerebellum3.65
CerebellumPeduncles5.1
CiliaryGanglion3.3
CingulateCortex4.8
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.5
FetalThyroid4.4
Fetalbrain4.55
Fetalliver3.9
Fetallung3.75
GlobusPallidus3.3
Heart5.65
Hypothalamus4.95
Kidney3.65
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.65
Liver5.9
Lung4.9
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.75
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.15
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary3.1
Pancreas3.65
PancreaticIslet4.8
ParietalLobe4.85
Pituitary5.3
Placenta4.55
Pons4.4
PrefrontalCortex5.6
Prostate5.3
Salivarygland3.7
SkeletalMuscle5.55
Skin3.55
SmoothMuscle5.1
Spinalcord4.8
SubthalamicNucleus4.1
SuperiorCervicalGanglion5.95
TemporalLobe4.3
Testis3.9
TestisGermCell4.15
TestisIntersitial3.95
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus4.6
Thymus3.55
Thyroid5.6
Tongue5.1
Tonsil4.45
Trachea3.75
TrigeminalGanglion4.95
Uterus3.75
UterusCorpus5.05
WholeBlood4.95
Wholebrain4.65
colon4.5
pineal_day5.5
pineal_night5.46
retina5.425
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P359291
  • 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
Amygdala6.66 ± 0.51
Basal Forebrain6.04 ± 0.12
Basal Part of Pons6.59 ± 0.25
Cerebellar Cortex6.3 ± 0.21
Cerebellar Nuclei5.35 ± 0.67
Claustrum6.81 ± 0.61
Epithalamus5.08 ± 0.6
Frontal Lobe6.16 ± 0.49
Globus Pallidus4.42 ± 0.59
Hypothalamus5.69 ± 0.39
Insula6.13 ± 0.23
Limbic Lobe6.53 ± 0.65
Mesencephalon5.9 ± 0.52
Myelencephalon6.02 ± 0.65
Occipital Lobe6.09 ± 0.54
Parietal Lobe6.21 ± 0.57
Pontine Tegmentum5.96 ± 0.64
Striatum6.13 ± 0.6
Subthalamus5.66 ± 0.09
Temporal Lobe6.3 ± 0.45
Thalamus5.84 ± 0.51
White Matter3.14 ± 0.72
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