mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

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)

* Left PPI network was created from samples with mutations in the LBS of HBG1 and the right PPI network was created from samples without mutations in the LBS of HBG1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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Phenotype information for HBG1

Gene level disease information (DisGeNet)