mutLBSgeneDB |
Gene summary for HBG1 |
Gene summary |
Basic gene Info. | Gene symbol | HBG1 |
Gene name | hemoglobin, gamma A | |
Synonyms | HBG-T2|HBGA|HBGR|HSGGL1 | |
Cytomap | UCSC genome browser: 11p15.5 | |
Type of gene | protein-coding | |
RefGenes | NM_000559.2, | |
Description | A-gamma globingamma A hemoglobingamma globingamma-1-globinhb F Agammahemoglobin gamma-1 chainhemoglobin gamma-a chainhemoglobin subunit gamma-1hemoglobin, gamma, regulator of | |
Modification date | 20141207 | |
dbXrefs | MIM : 142200 | |
HGNC : HGNC | ||
HPRD : 00789 | ||
Protein | UniProt: P69891 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HBG1 | |
BioGPS: 3047 | ||
Pathway | NCI Pathway Interaction Database: HBG1 | |
KEGG: HBG1 | ||
REACTOME: HBG1 | ||
Pathway Commons: HBG1 | ||
Context | iHOP: HBG1 | |
ligand binding site mutation search in PubMed: HBG1 | ||
UCL Cancer Institute: HBG1 | ||
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 HBG1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | L89 | Q88R | LUSC | 1 | L92 | E91K | SKCM | 1 | V99,N103 | P101L | SKCM | 1 | V99,N103 | P101S | SKCM | 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 HBG1 |
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 |
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 | N103 | P101S | -1.0422776 | V99 | P101S | -1.0422776 | L92 | E91K | -0.98473334 | L89 | Q88R | -0.49585453 | V99 | P101L | -0.32413906 | N103 | P101L | -0.32413906 |
(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 HBG1 from PDB |
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Differential gene expression and gene-gene network for HBG1 |
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 HBG1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0263454 | Chloracne | 1 | Biomarker |
umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HBG1 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of HBG1 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 HBG1 |
Multiple alignments for P69891 in multiple species |
LBS | AA sequence | # species | Species |
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