AutismKB 2.0

Annotation Detail for GBE1


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Basic Information Top
Gene Symbol:GBE1 ( GBE )
Gene Full Name: glucan (1,4-alpha-), branching enzyme 1
Band: 3p12.2
Quick LinksEntrez ID:2632; OMIM: 607839; Uniprot ID:GLGB_HUMAN; ENSEMBL ID: ENSG00000114480; HGNC ID: 4180
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
fetus31 / 56401254
neonate10 / 31097321
infant1 / 2362042
juvenile6 / 55556107
adult195 / 1939121100
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor3 / 17290173
gastrointestinal tumor3 / 11936925
germ cell tumor18 / 26384568
glioma16 / 106883149
head and neck tumor14 / 136302102
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma4 / 7175555
non-neoplasia6 / 9725061
normal225 / 336030766
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor116 / 125191926
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone8 / 71655111
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue132 / 149255884
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus3 / 20209148
eye6 / 21105428
heart8 / 8962689
intestine2 / 2344728
kidney28 / 211777132
larynx4 / 24145165
liver21 / 207743101
lung11 / 33697432
lymph4 / 4427090
lymph node2 / 9161021
mammary gland7 / 15327145
mouth9 / 67052134
muscle7 / 10771564
nerve3 / 15768190
ovary0 / 1020510 
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta16 / 28082556
prostate5 / 18934526
salivary gland0 / 201550 
skin25 / 210574118
spleen3 / 5395255
stomach2 / 9661920
testis15 / 33044245
thymus11 / 81131135
thyroid2 / 4747342
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord1 / 1368073
uterus14 / 23287860
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203282_at
Cell line Expression level Expression bar
721_B_lymphoblasts321.9
Adipocyte979.15
AdrenalCortex30.85
Adrenalgland102.1
Amygdala13.95
Appendix9.95
AtrioventricularNode8.55
BDCA4+_DentriticCells35.5
Bonemarrow34.05
BronchialEpithelialCells150.45
CD105+_Endothelial47.55
CD14+_Monocytes39.35
CD19+_BCells(neg._sel.)24.55
CD33+_Myeloid81.15
CD34+103.15
CD4+_Tcells13.05
CD56+_NKCells27.8
CD71+_EarlyErythroid8.5
CD8+_Tcells12.6
CardiacMyocytes162.25
Caudatenucleus6.6
Cerebellum5.65
CerebellumPeduncles8.2
CiliaryGanglion6
CingulateCortex6.6
Colorectaladenocarcinoma14.15
DorsalRootGanglion6.9
FetalThyroid29.85
Fetalbrain7.5
Fetalliver20.1
Fetallung28.4
GlobusPallidus4.7
Heart20.35
Hypothalamus21.2
Kidney31.6
Leukemia_chronicMyelogenousK-56213.1
Leukemia_promyelocytic-HL-60331.7
Leukemialymphoblastic(MOLT-4)20.8
Liver42.6
Lung21.7
Lymphnode7.85
Lymphoma_burkitts(Daudi)66.15
Lymphoma_burkitts(Raji)66.7
MedullaOblongata5.95
OccipitalLobe5.7
OlfactoryBulb6.6
Ovary11.5
Pancreas6.45
PancreaticIslet26.6
ParietalLobe7.1
Pituitary46.35
Placenta57.95
Pons6.1
PrefrontalCortex10.75
Prostate40.8
Salivarygland15.95
SkeletalMuscle13.25
Skin5.75
SmoothMuscle750.8
Spinalcord31.85
SubthalamicNucleus6.25
SuperiorCervicalGanglion13.15
TemporalLobe6.2
Testis11.85
TestisGermCell12.75
TestisIntersitial6.95
TestisLeydigCell7.25
TestisSeminiferousTubule6.2
Thalamus8.05
Thymus25.95
Thyroid72
Tongue13.65
Tonsil11.45
Trachea14.7
TrigeminalGanglion6.6
Uterus44.95
UterusCorpus47.7
WholeBlood38.15
Wholebrain6.2
colon13.75
pineal_day139.48
pineal_night108.14
retina65.525
small_intestine25.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14157_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
Amygdala3.88 ± 0.76
Basal Forebrain4.14 ± 0.53
Basal Part of Pons4.96 ± 0.17
Cerebellar Cortex5.02 ± 0.72
Cerebellar Nuclei5.01 ± 0.58
Claustrum5.75 ± 0.7
Epithalamus4.77 ± 0.67
Frontal Lobe4.79 ± 0.64
Globus Pallidus4.59 ± 0.82
Hypothalamus5.08 ± 0.97
Insula4.8 ± 0.65
Limbic Lobe4.54 ± 0.79
Mesencephalon5.11 ± 0.78
Myelencephalon4.51 ± 0.7
Occipital Lobe4.74 ± 0.77
Parietal Lobe4.42 ± 0.65
Pontine Tegmentum4.59 ± 0.81
Striatum4.17 ± 0.63
Subthalamus5.83 ± 0.1
Temporal Lobe4.45 ± 0.67
Thalamus4.5 ± 0.49
White Matter5.09 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gbe1CBCerebellum2.94
3.21
Gbe1CTXCerebral cortex3.58
1.91
Gbe1HIPHippocampal region2.48
1.75
Gbe1HPFHippocampal formation2.79
1.57
Gbe1HYHypothalamus2.36
1.23
Gbe1LSXLateral septal complex0.29
0.18
Gbe1MBMidbrain3.7
2.54
Gbe1MYMedulla9.38
10.3
Gbe1OLFOlfactory bulb7.86
4.11
Gbe1PPons3.87
3.49
Gbe1PALPallidum2.05
1.31
Gbe1RHPRetrohippocampal region3.29
1.29
Gbe1sAMYStriatum-like amygdalar nuclei1.57
1.99
Gbe1STRStriatum2.6
1.91
Gbe1STRdStriatum dorsal region3.05
2.3
Gbe1STRvStriatum ventral region2.64
1.5
Gbe1THThalamus23.05
15.39
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003308 9 218 226 HFTCNVLPR 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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