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 PHAX
Gene summary
Basic gene Info.Gene symbolPHAX
Gene namephosphorylated adaptor for RNA export
SynonymsRNUXA
CytomapUCSC genome browser: 5q23.2
Type of geneprotein-coding
RefGenesNM_032177.3,
DescriptionRNA U small nuclear RNA export adapter proteinRNA U, small nuclear RNA export adapter (phosphorylation regulated)RNA U, small nuclear RNA export adaptor (phosphorylation regulated)phosphorylated adapter RNA export protein
Modification date20141207
dbXrefs MIM : 604924
HGNC : HGNC
Ensembl : ENSG00000164902
HPRD : 15122
Vega : OTTHUMG00000163273
ProteinUniProt: Q9H814
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PHAX
BioGPS: 51808
PathwayNCI Pathway Interaction Database: PHAX
KEGG: PHAX
REACTOME: PHAX
Pathway Commons: PHAX
ContextiHOP: PHAX
ligand binding site mutation search in PubMed: PHAX
UCL Cancer Institute: PHAX
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PHAX
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
LBSAAchange of nsSNVCancer type# samples
L290L290VLUSC1
R281R281QSTAD1
R281R281QUCEC1
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 PHAX
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.
LBSAAchange of nsSNVRelative stability change
R281R281Q-0.62752531
L290L290V-0.61046847
(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 PHAX from PDB

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Differential gene expression and gene-gene network for PHAX
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 PHAX and the right PPI network was created from samples without mutations in the LBS of PHAX. 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 PHAX
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for PHAX
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PHAX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of PHAX
Multiple alignments for Q9H814 in multiple species
LBSAA sequence# speciesSpecies
E240SFRLQEPKKDL2Homo sapiens, Bos taurus
E240AFRLQEPKKDL2Mus musculus, Rattus norvegicus
E240AYRLCEPKKDL1Gallus gallus
F275QNGGLFIMNGS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F275QNGGLFIVNGT1Gallus gallus
F308QIKDIFYIENQ2Homo sapiens, Rattus norvegicus
F308QIKEIFYLENQ1Gallus gallus
F308QIKDIFYVENQ1Mus musculus
F308QIKDIFYLENQ1Bos taurus
G286RRRTPGGVFLN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G286RRRTPGGVYLN1Gallus gallus
G287RRTPGGVFLNL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G287RRTPGGVYLNL1Gallus gallus
I276NGGLFIMNGSR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I276NGGLFIVNGTR1Gallus gallus
K242RLQEPKKDLIA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K242RLCEPKKDLIA1Gallus gallus
K294FLNLLKNTPSI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K294YLNLLKNTPSI1Gallus gallus
L274EQNGGLFIMNG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L274EQNGGLFIVNG1Gallus gallus
L290PGGVFLNLLKN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L290PGGVYLNLLKN1Gallus gallus
M277GGLFIMNGSRR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
M277GGLFIVNGTRR1Gallus gallus
N278GLFIMNGSRRR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N278GLFIVNGTRRR1Gallus gallus
P241FRLQEPKKDLI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P241YRLCEPKKDLI1Gallus gallus
R281IMNGSRRRTPG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R281IVNGTRRRTPG1Gallus gallus
T284GSRRRTPGGVF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T284GTRRRTPGGVY1Gallus gallus


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