mutLBSgeneDB |
Gene summary for HBD |
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Basic gene Info. | Gene symbol | HBD |
Gene name | hemoglobin, delta | |
Synonyms | - | |
Cytomap | UCSC genome browser: 11p15.5 | |
Type of gene | protein-coding | |
RefGenes | NM_000519.3, | |
Description | delta globindelta-globin chainhemoglobin delta chainhemoglobin subunit delta | |
Modification date | 20141207 | |
dbXrefs | MIM : 142000 | |
HGNC : HGNC | ||
Ensembl : ENSG00000223609 | ||
HPRD : 00787 | ||
Vega : OTTHUMG00000066674 | ||
Protein | UniProt: P02042 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HBD | |
BioGPS: 3045 | ||
Pathway | NCI Pathway Interaction Database: HBD | |
KEGG: HBD | ||
REACTOME: HBD | ||
Pathway Commons: HBD | ||
Context | iHOP: HBD | |
ligand binding site mutation search in PubMed: HBD | ||
UCL Cancer Institute: HBD | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for HBD |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | H144 | A143S | LUAD | 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 HBD |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | H144 | A143S | -1.0653122 |
(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) |
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Differential gene expression and gene-gene network for HBD |
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Phenotype information for HBD |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0271990 | delta-Thalassemia | 11 | Biomarker, GeneticVariation |
umls:C0263454 | Chloracne | 1 | Biomarker |
umls:C0022548 | Keloid | 1 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HBD |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of HBD |
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LBS | AA sequence | # species | Species | H144 | ANALAHKYH | 2 | Homo sapiens, Pan troglodytes | H144 | ANALAHRYH | 1 | Bos taurus | H3 | 3 | Homo sapiens, Pan troglodytes, Bos taurus | Y146 | ALAHKYH | 2 | Homo sapiens, Pan troglodytes | Y146 | ALAHRYH | 1 | Bos taurus |
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