AutismKB 2.0

Annotation Detail for GGT1


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Basic Information Top
Gene Symbol:GGT1 ( CD224,D22S672,D22S732,GGT,GGT 1,GTG,MGC96892,MGC96904,MGC96963 )
Gene Full Name: gamma-glutamyltransferase 1
Band: 22q11.23
Quick LinksEntrez ID:2678; OMIM: 612346; Uniprot ID:GGT1_HUMAN; ENSEMBL ID: ENSG00000100031; HGNC ID: 4250
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 
blastocyst1 / 6231916
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult48 / 193912124
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal36 / 336030710
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
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 
blood10 / 12347880
bone0 / 716550 
bone marrow1 / 4880120
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine4 / 23447217
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung8 / 33697423
lymph2 / 4427045
lymph node0 / 916100 
mammary gland12 / 15327178
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate10 / 18934552
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211417_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts118.4
Adipocyte4.7
AdrenalCortex5.2
Adrenalgland3.7
Amygdala4.15
Appendix5.4
AtrioventricularNode3.25
BDCA4+_DentriticCells6.4
Bonemarrow4.5
BronchialEpithelialCells4.35
CD105+_Endothelial4.45
CD14+_Monocytes11.95
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid10.65
CD34+6.35
CD4+_Tcells5.55
CD56+_NKCells5.3
CD71+_EarlyErythroid3.95
CD8+_Tcells5.2
CardiacMyocytes5.45
Caudatenucleus3.95
Cerebellum3.55
CerebellumPeduncles5.05
CiliaryGanglion3.2
CingulateCortex4.45
Colorectaladenocarcinoma4.25
DorsalRootGanglion3.4
FetalThyroid12.95
Fetalbrain4.4
Fetalliver5.75
Fetallung4.35
GlobusPallidus3.2
Heart6.75
Hypothalamus4.75
Kidney274.15
Leukemia_chronicMyelogenousK-5623.95
Leukemia_promyelocytic-HL-603.9
Leukemialymphoblastic(MOLT-4)3.5
Liver144.75
Lung463.25
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.6
Lymphoma_burkitts(Raji)55.85
MedullaOblongata3.95
OccipitalLobe3.9
OlfactoryBulb3.45
Ovary2.95
Pancreas5.5
PancreaticIslet5.15
ParietalLobe4.6
Pituitary5.15
Placenta5.35
Pons4.2
PrefrontalCortex5.5
Prostate172.8
Salivarygland3.5
SkeletalMuscle5.85
Skin3.55
SmoothMuscle4.9
Spinalcord4.65
SubthalamicNucleus4.6
SuperiorCervicalGanglion5.25
TemporalLobe4
Testis127.8
TestisGermCell14.1
TestisIntersitial49.6
TestisLeydigCell17.95
TestisSeminiferousTubule66.45
Thalamus4.45
Thymus3.9
Thyroid68.8
Tongue4.25
Tonsil4.7
Trachea3.75
TrigeminalGanglion4.3
Uterus3.55
UterusCorpus3.9
WholeBlood8.25
Wholebrain3.8
colon5.2
pineal_day5.12
pineal_night5.16
retina5.2
small_intestine33.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P154986
  • 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
Amygdala4.88 ± 0.63
Basal Forebrain4.65 ± 0.39
Basal Part of Pons4.7 ± 0.24
Cerebellar Cortex4.63 ± 0.44
Cerebellar Nuclei4.96 ± 0.28
Claustrum5.16 ± 0.69
Epithalamus4.45 ± 0.23
Frontal Lobe4.72 ± 0.38
Globus Pallidus5.25 ± 0.29
Hypothalamus4.85 ± 0.21
Insula4.63 ± 0.41
Limbic Lobe4.93 ± 0.5
Mesencephalon5.04 ± 0.38
Myelencephalon4.88 ± 0.46
Occipital Lobe5.14 ± 0.52
Parietal Lobe4.95 ± 0.41
Pontine Tegmentum4.72 ± 0.43
Striatum5.06 ± 0.37
Subthalamus5.13 ± 0.04
Temporal Lobe4.74 ± 0.45
Thalamus4.76 ± 0.41
White Matter5.44 ± 0.86
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ggt1CBCerebellum0.99
1.82
Ggt1CTXCerebral cortex0.54
0.73
Ggt1HIPHippocampal region0.4
0.72
Ggt1HPFHippocampal formation0.73
0.94
Ggt1HYHypothalamus0.43
0.48
Ggt1LSXLateral septal complex0.14
0.09
Ggt1MBMidbrain0.64
1.34
Ggt1MYMedulla0.62
1.05
Ggt1OLFOlfactory bulb3.74
3.41
Ggt1PPons1.51
3.1
Ggt1PALPallidum0.2
0.19
Ggt1RHPRetrohippocampal region1.46
1.38
Ggt1sAMYStriatum-like amygdalar nuclei0.65
0.52
Ggt1STRStriatum0.47
0.51
Ggt1STRdStriatum dorsal region0.35
0.41
Ggt1STRvStriatum ventral region0.94
1.22
Ggt1THThalamus0.25
0.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011788 15 183 197 TVIEQQPVLCEVFCR 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