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 SDR39U1
Gene summary
Basic gene Info.Gene symbolSDR39U1
Gene nameshort chain dehydrogenase/reductase family 39U, member 1
SynonymsC14orf124|HCDI
CytomapUCSC genome browser: 14q12
Type of geneprotein-coding
RefGenesNM_001290292.1,
NM_001290293.1,NM_020195.2,
Descriptionepimerase family protein SDR39U1
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000100445
HPRD : 16598
Vega : OTTHUMG00000171316
ProteinUniProt: Q9NRG7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SDR39U1
BioGPS: 56948
PathwayNCI Pathway Interaction Database: SDR39U1
KEGG: SDR39U1
REACTOME: SDR39U1
Pathway Commons: SDR39U1
ContextiHOP: SDR39U1
ligand binding site mutation search in PubMed: SDR39U1
UCL Cancer Institute: SDR39U1
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 SDR39U1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A85A85VUCEC1
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 SDR39U1
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
A85A85V-0.54522032
(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 SDR39U1 from PDB

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Differential gene expression and gene-gene network for SDR39U1
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 SDR39U1 and the right PPI network was created from samples without mutations in the LBS of SDR39U1. 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 SDR39U1
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 SDR39U1
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.
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 SDR39U1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of SDR39U1
Multiple alignments for Q9NRG7 in multiple species
LBSAA sequence# speciesSpecies
A85AAVNLAGENIL2Homo sapiens, Bos taurus
A85AVVNLAGLPIS1Arabidopsis thaliana
A85VVINLAGENIL1Mus musculus
E87VNLAGENILNP2Homo sapiens, Bos taurus
E87VNLAGLPIST-1Arabidopsis thaliana
E87INLAGENILNP1Mus musculus
G184VVVRSGVVLGR3Homo sapiens, Mus musculus, Bos taurus
G184ALIRIGVVLGK1Arabidopsis thaliana
G86AVNLAGENILN2Homo sapiens, Bos taurus
G86VVNLAGLPIST1Arabidopsis thaliana
G86VINLAGENILN1Mus musculus
L84-AAVNLAGENI2Homo sapiens, Bos taurus
L84TAVVNLAGLPI1Arabidopsis thaliana
L84-VVINLAGENI1Mus musculus
N88NLAGENILNPL3Homo sapiens, Mus musculus, Bos taurus
N88NLAGLPIST--1Arabidopsis thaliana
R108EVIGSRLETTQ1Homo sapiens
R108EIKGSRIRVTS1Arabidopsis thaliana
R108EVLTSRLDTTH1Mus musculus
R108EVLSSRLETTQ1Bos taurus
R58VTLVSRKPGPG1Homo sapiens
R58IRVLTRSKSKA1Arabidopsis thaliana
R58VKLVSRQPGPG1Mus musculus
R58VTLISRKPGPD1Bos taurus
S107KEVIGSRLETT1Homo sapiens
S107KEIKGSRIRVT1Arabidopsis thaliana
S107KEVLTSRLDTT1Mus musculus
S107KEVLSSRLETT1Bos taurus
S183QVVVRSGVVLG3Homo sapiens, Mus musculus, Bos taurus
S183VALIRIGVVLG1Arabidopsis thaliana
S57EVTLVSRKPGP1Homo sapiens
S57AIRVLTRSKSK1Arabidopsis thaliana
S57EVKLVSRQPGP1Mus musculus
S57EVTLISRKPGP1Bos taurus
T133VLV--TGVAYY2Homo sapiens, Bos taurus
T133VLVSATAVGYY1Arabidopsis thaliana
T133ILV--TGVAYY1Mus musculus
V132KAWVLV--TGV1Homo sapiens
V132RPTVLVSATAV1Arabidopsis thaliana
V132QAWILV--TGV1Mus musculus
V132QAWVLV--TGV1Bos taurus
V186VRSGVVLGRGG3Homo sapiens, Mus musculus, Bos taurus
V186IRIGVVLGKDG1Arabidopsis thaliana
W165NLVTKWEAAAR3Homo sapiens, Mus musculus, Bos taurus
W165EVCREWEGTAL1Arabidopsis thaliana


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