mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 SF1
Gene summary
Basic gene Info.Gene symbolSF1
Gene namesplicing factor 1
SynonymsBBP|D11S636|MBBP|ZCCHC25|ZFM1|ZNF162
CytomapUCSC genome browser: 11q13
Type of geneprotein-coding
RefGenesNM_001178030.1,
NM_001178031.1,NM_004630.3,NM_201995.2,NM_201997.2,
NM_201998.2,NR_033649.1,NR_033650.1,
Descriptionmammalian branch point-binding proteintranscription factor ZFM1zinc finger gene in MEN1 locuszinc finger protein 162
Modification date20141207
dbXrefs MIM : 601516
HGNC : HGNC
Ensembl : ENSG00000168066
HPRD : 03306
Vega : OTTHUMG00000066833
ProteinUniProt: Q15637
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SF1
BioGPS: 7536
PathwayNCI Pathway Interaction Database: SF1
KEGG: SF1
REACTOME: SF1
Pathway Commons: SF1
ContextiHOP: SF1
ligand binding site mutation search in PubMed: SF1
UCL Cancer Institute: SF1
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 SF1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T253R255QCOAD2
R245R245WCOAD1
I175K174TCOAD1
R178R178LLUAD1
A248A248TLUAD1
K241R240WLUAD1
S182G181ROV1
L65L65PSTAD1
T253R255WSTAD1
K241K241TSTAD1
V153V153AUCEC1
T253R255WUCEC1
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 SF1
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
R245R245W0.39552896
S182G181R0.066751804
L65L65P-1.4589571
I175K174T-1.4003178
K241R240W-1.2100968
T253R255Q-0.97025366
T253R255W-0.72515469
K241K241T-0.70784573
V153V153A-0.60978919
A248A248T-0.3756575
R178R178L-0.326774
(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 SF1 from PDB
PDB IDPDB titlePDB structure
4FXWStructure of phosphorylated SF1 complex with U2AF65-UHM domain

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Differential gene expression and gene-gene network for SF1
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 SF1 and the right PPI network was created from samples without mutations in the LBS of SF1. 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 SF1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025202Melanoma1Biomarker

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

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Pharmacological information for SF1
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 SF1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids1k1gAV153 I175 R178 S182 K241 R245 A248 T253


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Conservation information for LBS of SF1
Multiple alignments for Q15637 in multiple species
LBSAA sequence# speciesSpecies


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