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mutLBSgeneDB |
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| Gene summary for GZMH |
 Gene summary |
| Basic gene Info. | Gene symbol | GZMH |
| Gene name | granzyme H (cathepsin G-like 2, protein h-CCPX) | |
| Synonyms | CCP-X|CGL-2|CSP-C|CTLA1|CTSGL2 | |
| Cytomap | UCSC genome browser: 14q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001270780.1, NM_001270781.1,NM_033423.4, | |
| Description | cytotoxic T-lymphocyte proteinasecytotoxic T-lymphocyte-associated serine esterase 1cytotoxin serine protease-Cgranzyme H | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 116831 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100450 | ||
| HPRD : 00290 | ||
| Vega : OTTHUMG00000140185 | ||
| Protein | UniProt: P20718 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GZMH | |
| BioGPS: 2999 | ||
| Pathway | NCI Pathway Interaction Database: GZMH | |
| KEGG: GZMH | ||
| REACTOME: GZMH | ||
| Pathway Commons: GZMH | ||
| Context | iHOP: GZMH | |
| ligand binding site mutation search in PubMed: GZMH | ||
| UCL Cancer Institute: GZMH | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for GZMH |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N220 | N220I | BRCA | 1 | G223 | G223E | LUAD | 1 | K80 | Q82H | SKCM | 1 | S202 | G203R | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for GZMH |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | S202 | G203R | 0.16771749 | K80 | Q82H | -0.82412614 | N220 | N220I | -0.61557975 | G223 | G223E | -0.59300096 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for GZMH from PDB |
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| Differential gene expression and gene-gene network for GZMH |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for GZMH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GZMH |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GZMH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of GZMH |
| Multiple alignments for P20718 in multiple species |
| LBS | AA sequence | # species | Species | C49 | SRKR-CGGILV | 1 | Homo sapiens | C49 | GKRHSCGGFLV | 1 | Mus musculus | C49 | GKKKYCGGFLV | 1 | Mus musculus | C49 | GNRIYCGGFLI | 1 | Mus musculus | C49 | GNRRYCGGFLV | 1 | Mus musculus | D201 | TPFKGDSGGPL | 2 | Mus musculus, Mus musculus | D201 | TGFKGDSGGPL | 1 | Homo sapiens | D201 | STYSGDSGGPL | 1 | Mus musculus | D201 | APYEGESGGPL | 1 | Mus musculus | F198 | KIKTPFKGDSG | 2 | Mus musculus, Mus musculus | F198 | KTQTGFKGDSG | 1 | Homo sapiens | F198 | KIQSTYSGDSG | 1 | Mus musculus | F198 | KVQAPYEGESG | 1 | Mus musculus | G197 | KKIKTPFKGDS | 2 | Mus musculus, Mus musculus | G197 | KKTQTGFKGDS | 1 | Homo sapiens | G197 | KKIQSTYSGDS | 1 | Mus musculus | G197 | KKVQAPYEGES | 1 | Mus musculus | G200 | KTPFKGDSGGP | 2 | Mus musculus, Mus musculus | G200 | QTGFKGDSGGP | 1 | Homo sapiens | G200 | QSTYSGDSGGP | 1 | Mus musculus | G200 | QAPYEGESGGP | 1 | Mus musculus | G219 | GILSYGNKKGT | 1 | Homo sapiens | G219 | GVLTYGLNRTI | 1 | Mus musculus | G219 | GVVSYGINRTI | 1 | Mus musculus | G219 | GLFAYAKNGTI | 1 | Mus musculus | G219 | GLLAYAKNRTI | 1 | Mus musculus | G223 | YGNKKGTPPGV | 1 | Homo sapiens | G223 | YGLNRTIGPGV | 1 | Mus musculus | G223 | YGINRTITPGV | 1 | Mus musculus | G223 | YAKNGTISSGI | 1 | Mus musculus | G223 | YAKNRTISSGV | 1 | Mus musculus | H64 | VLTAAHCRN-- | 2 | Mus musculus, Mus musculus | H64 | VLTAAHCQG-- | 1 | Homo sapiens | H64 | VLTAAHCTG-- | 1 | Mus musculus | H64 | VLTAAHCKNSS | 1 | Mus musculus | K199 | IKTPFKGDSGG | 2 | Mus musculus, Mus musculus | K199 | TQTGFKGDSGG | 1 | Homo sapiens | K199 | IQSTYSGDSGG | 1 | Mus musculus | K199 | VQAPYEGESGG | 1 | Mus musculus | K221 | LSYGNKKGTPP | 1 | Homo sapiens | K221 | LTYGLNRTIGP | 1 | Mus musculus | K221 | VSYGINRTITP | 1 | Mus musculus | K221 | FAYAKNGTISS | 1 | Mus musculus | K221 | LAYAKNRTISS | 1 | Mus musculus | K47 | QEKSRKR-CGG | 1 | Homo sapiens | K47 | KDNGKRHSCGG | 1 | Mus musculus | K47 | DIEGKKKYCGG | 1 | Mus musculus | K47 | DIKGNRIYCGG | 1 | Mus musculus | K47 | DIEGNRRYCGG | 1 | Mus musculus | K80 | GAHNIKAKEET | 2 | Mus musculus, Mus musculus | K80 | GAHNIKEQERT | 1 | Homo sapiens | K80 | GAHNIRAKEET | 1 | Mus musculus | K80 | GAHNITAKEET | 1 | Mus musculus | L155 | RSINDTKASAR | 2 | Mus musculus, Mus musculus | L155 | VSMSTL--ATT | 1 | Homo sapiens | L155 | TSINATQRSSC | 1 | Mus musculus | L155 | TSINATKASAR | 1 | Mus musculus | N179 | RLFHGNYSRAT | 1 | Homo sapiens | N179 | KYFY-KYFKTM | 1 | Mus musculus | N179 | KLWY-TYSKTT | 1 | Mus musculus | N179 | KRFR-YYTETT | 1 | Mus musculus | N179 | KRFR-HYTETT | 1 | Mus musculus | N220 | ILSYGNKKGTP | 1 | Homo sapiens | N220 | VLTYGLNRTIG | 1 | Mus musculus | N220 | VVSYGINRTIT | 1 | Mus musculus | N220 | LFAYAKNGTIS | 1 | Mus musculus | N220 | LLAYAKNRTIS | 1 | Mus musculus | Q39 | YMAFVQFLQEK | 1 | Homo sapiens | Q39 | YMARVRFVKDN | 1 | Mus musculus | Q39 | YMAFIKSVDIE | 1 | Mus musculus | Q39 | YMAFVMSVDIK | 1 | Mus musculus | Q39 | YMAFVKSVDIE | 1 | Mus musculus | R46 | LQEKSRKR-CG | 1 | Homo sapiens | R46 | VKDNGKRHSCG | 1 | Mus musculus | R46 | VDIEGKKKYCG | 1 | Mus musculus | R46 | VDIKGNRIYCG | 1 | Mus musculus | R46 | VDIEGNRRYCG | 1 | Mus musculus | R48 | EKSRKR-CGGI | 1 | Homo sapiens | R48 | DNGKRHSCGGF | 1 | Mus musculus | R48 | IEGKKKYCGGF | 1 | Mus musculus | R48 | IKGNRIYCGGF | 1 | Mus musculus | R48 | IEGNRRYCGGF | 1 | Mus musculus | S202 | PFKGDSGGPLV | 2 | Mus musculus, Mus musculus | S202 | GFKGDSGGPLV | 1 | Homo sapiens | S202 | TYSGDSGGPLV | 1 | Mus musculus | S202 | PYEGESGGPLV | 1 | Mus musculus | S217 | AQGILSYGNKK | 1 | Homo sapiens | S217 | AYGVLTYGLNR | 1 | Mus musculus | S217 | AYGVVSYGINR | 1 | Mus musculus | S217 | AYGLFAYAKNG | 1 | Mus musculus | S217 | AYGLLAYAKNR | 1 | Mus musculus | Y218 | QGILSYGNKKG | 1 | Homo sapiens | Y218 | YGVLTYGLNRT | 1 | Mus musculus | Y218 | YGVVSYGINRT | 1 | Mus musculus | Y218 | YGLFAYAKNGT | 1 | Mus musculus | Y218 | YGLLAYAKNRT | 1 | Mus musculus |
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