AutismKB 2.0

Annotation Detail for GZMH


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Basic Information Top
Gene Symbol:GZMH ( CCP-X,CGL-2,CSP-C,CTLA1,CTSGL2 )
Gene Full Name: granzyme H (cathepsin G-like 2, protein h-CCPX)
Band: 14q12
Quick LinksEntrez ID:2999; OMIM: 116831; Uniprot ID:GRAH_HUMAN; ENSEMBL ID: ENSG00000100450; HGNC ID: 4710
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 
adult10 / 19391215
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 tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal12 / 33603073
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 tumor2 / 12519115
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 
blood4 / 12347832
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
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: 210321_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.25
Adipocyte6.2
AdrenalCortex6.45
Adrenalgland5.4
Amygdala6.3
Appendix6.3
AtrioventricularNode4.9
BDCA4+_DentriticCells8.95
Bonemarrow10.6
BronchialEpithelialCells6.15
CD105+_Endothelial6.3
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.6
CD33+_Myeloid7.65
CD34+7.35
CD4+_Tcells51.55
CD56+_NKCells1414.15
CD71+_EarlyErythroid5.65
CD8+_Tcells236.1
CardiacMyocytes8.1
Caudatenucleus5.55
Cerebellum5.05
CerebellumPeduncles7.1
CiliaryGanglion4.45
CingulateCortex6.6
Colorectaladenocarcinoma6.1
DorsalRootGanglion4.9
FetalThyroid6.05
Fetalbrain5.9
Fetalliver5.4
Fetallung5.7
GlobusPallidus4.55
Heart33.6
Hypothalamus6.55
Kidney5.2
Leukemia_chronicMyelogenousK-5625.55
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.8
Liver8.75
Lung22.9
Lymphnode6.85
Lymphoma_burkitts(Daudi)8.15
Lymphoma_burkitts(Raji)9.05
MedullaOblongata5.7
OccipitalLobe5.6
OlfactoryBulb4.9
Ovary4.3
Pancreas5.05
PancreaticIslet7.25
ParietalLobe7.15
Pituitary8.45
Placenta6.25
Pons5.95
PrefrontalCortex7.85
Prostate7.1
Salivarygland6.65
SkeletalMuscle8.7
Skin6.25
SmoothMuscle7.1
Spinalcord6.45
SubthalamicNucleus5.75
SuperiorCervicalGanglion7.6
TemporalLobe7.05
Testis5.35
TestisGermCell5.65
TestisIntersitial5.15
TestisLeydigCell7.4
TestisSeminiferousTubule8.2
Thalamus6.4
Thymus4.95
Thyroid7.7
Tongue6.45
Tonsil6.05
Trachea5.2
TrigeminalGanglion6.35
Uterus5.05
UterusCorpus5.65
WholeBlood405.6
Wholebrain5.25
colon6.15
pineal_day8.56
pineal_night7.36
retina7.4
small_intestine5.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12505_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
Amygdala2.29 ± 1.05
Basal Forebrain1.89 ± 0.19
Basal Part of Pons1.54 ± 0.34
Cerebellar Cortex1.72 ± 0.68
Cerebellar Nuclei2.2 ± 0.76
Claustrum2.81 ± 0.94
Epithalamus1.66 ± 0.84
Frontal Lobe1.73 ± 0.61
Globus Pallidus2.5 ± 0.3
Hypothalamus1.93 ± 0.67
Insula1.93 ± 0.9
Limbic Lobe1.88 ± 0.62
Mesencephalon2.11 ± 0.92
Myelencephalon1.92 ± 0.7
Occipital Lobe1.94 ± 0.73
Parietal Lobe1.88 ± 0.68
Pontine Tegmentum1.89 ± 0.51
Striatum2.14 ± 0.64
Subthalamus1.99 ± 0.65
Temporal Lobe1.79 ± 0.71
Thalamus1.89 ± 0.63
White Matter2.48 ± 0.4
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00437989 10 200 209 GDSGGPLVCK 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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