AutismKB 2.0

Annotation Detail for GZMB


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Basic Information Top
Gene Symbol:GZMB ( CCPI,CGL-1,CGL1,CSP-B,CSPB,CTLA1,CTSGL1,HLP,SECT )
Gene Full Name: granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
Band: 14q12
Quick LinksEntrez ID:3002; OMIM: 123910; Uniprot ID:GRAB_HUMAN; ENSEMBL ID: ENSG00000100453; HGNC ID: 4709
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
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 tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal38 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
blood11 / 12347889
bone0 / 716550 
bone marrow1 / 4880120
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
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 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach4 / 9661941
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210164_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.55
AdrenalCortex6.35
Adrenalgland4.85
Amygdala5.75
Appendix6.1
AtrioventricularNode4.55
BDCA4+_DentriticCells2806.7
Bonemarrow12.5
BronchialEpithelialCells5.3
CD105+_Endothelial5.5
CD14+_Monocytes17.25
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid6.95
CD34+7.1
CD4+_Tcells8.25
CD56+_NKCells2311.6
CD71+_EarlyErythroid5.3
CD8+_Tcells32.15
CardiacMyocytes7.55
Caudatenucleus5.05
Cerebellum4.6
CerebellumPeduncles6.5
CiliaryGanglion4.4
CingulateCortex6.05
Colorectaladenocarcinoma5.55
DorsalRootGanglion4.5
FetalThyroid5.5
Fetalbrain5.45
Fetalliver4.9
Fetallung5.55
GlobusPallidus4.3
Heart7.8
Hypothalamus5.9
Kidney4.8
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.45
Liver7.85
Lung13.55
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)8.05
MedullaOblongata5.05
OccipitalLobe5
OlfactoryBulb4.4
Ovary3.9
Pancreas5.5
PancreaticIslet6
ParietalLobe6.3
Pituitary6.5
Placenta5.55
Pons5.4
PrefrontalCortex6.55
Prostate6.45
Salivarygland4.55
SkeletalMuscle7.75
Skin4.5
SmoothMuscle6.1
Spinalcord5.95
SubthalamicNucleus5.25
SuperiorCervicalGanglion6.7
TemporalLobe5.25
Testis4.8
TestisGermCell4.55
TestisIntersitial4.65
TestisLeydigCell5.6
TestisSeminiferousTubule4.75
Thalamus5.75
Thymus4.3
Thyroid6.8
Tongue5.75
Tonsil5.8
Trachea5.5
TrigeminalGanglion6
Uterus4.45
UterusCorpus5.85
WholeBlood333.15
Wholebrain4.5
colon5.6
pineal_day6.84
pineal_night6.68
retina6.575
small_intestine5.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_17111_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
Amygdala2.79 ± 0.94
Basal Forebrain2.27 ± 0.49
Basal Part of Pons2.17 ± 0.81
Cerebellar Cortex2.42 ± 0.92
Cerebellar Nuclei2.52 ± 0.8
Claustrum2.81 ± 0.78
Epithalamus1.94 ± 0.93
Frontal Lobe2.2 ± 0.74
Globus Pallidus2.5 ± 0.48
Hypothalamus2.31 ± 0.64
Insula2.11 ± 0.77
Limbic Lobe2.5 ± 0.71
Mesencephalon2.43 ± 0.82
Myelencephalon2.39 ± 0.71
Occipital Lobe2.49 ± 0.79
Parietal Lobe2.39 ± 0.88
Pontine Tegmentum2.3 ± 0.75
Striatum2.51 ± 0.86
Subthalamus2.41 ± 0.84
Temporal Lobe2.33 ± 0.78
Thalamus2.31 ± 0.77
White Matter2.4 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GzmbCBCerebellum73.83
100
GzmbCTXCerebral cortex100
100
GzmbHIPHippocampal region100
100
GzmbHPFHippocampal formation100
100
GzmbHYHypothalamus80.55
96.43
GzmbLSXLateral septal complex100
100
GzmbMBMidbrain100
100
GzmbMYMedulla79.49
100
GzmbOLFOlfactory bulb100
100
GzmbPPons72.37
100
GzmbPALPallidum100
100
GzmbRHPRetrohippocampal region100
100
GzmbsAMYStriatum-like amygdalar nuclei100
100
GzmbSTRStriatum100
100
GzmbSTRdStriatum dorsal region100
100
GzmbSTRvStriatum ventral region100
100
GzmbTHThalamus100
100
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