AutismKB 2.0

Annotation Detail for GGTLC2


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Basic Information Top
Gene Symbol:GGTLC2 ( GGTL4,MGC96916 )
Gene Full Name: gamma-glutamyltransferase light chain 2
Band: 22q11.22
Quick LinksEntrez ID:91227; OMIM: 612339; Uniprot ID:GGTL2_HUMAN; ENSEMBL ID: ENSG00000100121; HGNC ID: 18596
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal8 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_24_P59062
  • 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
Amygdala3.42 ± 0.92
Basal Forebrain3 ± 0.37
Basal Part of Pons2.66 ± 0.41
Cerebellar Cortex3.08 ± 0.62
Cerebellar Nuclei3.07 ± 0.62
Claustrum3.28 ± 0.61
Epithalamus2.82 ± 0.63
Frontal Lobe2.92 ± 0.67
Globus Pallidus3.46 ± 0.73
Hypothalamus2.89 ± 0.35
Insula2.54 ± 0.77
Limbic Lobe2.99 ± 0.64
Mesencephalon3.14 ± 0.7
Myelencephalon3.06 ± 0.63
Occipital Lobe3.2 ± 0.67
Parietal Lobe3 ± 0.77
Pontine Tegmentum3.05 ± 0.71
Striatum3.09 ± 0.63
Subthalamus2.87 ± 0.75
Temporal Lobe3.04 ± 0.63
Thalamus3.07 ± 0.57
White Matter3.81 ± 0.38
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00739427 13 167 179 NIDQAVTAALETR 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