mutLBSgeneDB |
Gene summary for SF1 |
Gene summary |
Basic gene Info. | Gene symbol | SF1 |
Gene name | splicing factor 1 | |
Synonyms | BBP|D11S636|MBBP|ZCCHC25|ZFM1|ZNF162 | |
Cytomap | UCSC genome browser: 11q13 | |
Type of gene | protein-coding | |
RefGenes | NM_001178030.1, NM_001178031.1,NM_004630.3,NM_201995.2,NM_201997.2, NM_201998.2,NR_033649.1,NR_033650.1, | |
Description | mammalian branch point-binding proteintranscription factor ZFM1zinc finger gene in MEN1 locuszinc finger protein 162 | |
Modification date | 20141207 | |
dbXrefs | MIM : 601516 | |
HGNC : HGNC | ||
Ensembl : ENSG00000168066 | ||
HPRD : 03306 | ||
Vega : OTTHUMG00000066833 | ||
Protein | UniProt: Q15637 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SF1 | |
BioGPS: 7536 | ||
Pathway | NCI Pathway Interaction Database: SF1 | |
KEGG: SF1 | ||
REACTOME: SF1 | ||
Pathway Commons: SF1 | ||
Context | iHOP: SF1 | |
ligand binding site mutation search in PubMed: SF1 | ||
UCL Cancer Institute: SF1 | ||
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 SF1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | T253 | R255Q | COAD | 2 | R245 | R245W | COAD | 1 | I175 | K174T | COAD | 1 | R178 | R178L | LUAD | 1 | A248 | A248T | LUAD | 1 | K241 | R240W | LUAD | 1 | S182 | G181R | OV | 1 | L65 | L65P | STAD | 1 | T253 | R255W | STAD | 1 | K241 | K241T | STAD | 1 | V153 | V153A | UCEC | 1 | T253 | R255W | UCEC | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | R245 | R245W | 0.39552896 | S182 | G181R | 0.066751804 | L65 | L65P | -1.4589571 | I175 | K174T | -1.4003178 | K241 | R240W | -1.2100968 | T253 | R255Q | -0.97025366 | T253 | R255W | -0.72515469 | K241 | K241T | -0.70784573 | V153 | V153A | -0.60978919 | A248 | A248T | -0.3756575 | R178 | R178L | -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 ID | PDB title | PDB structure | 4FXW | Structure 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) |
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Phenotype information for SF1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0025202 | Melanoma | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of SF1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1k1g | A | V153 I175 R178 S182 K241 R245 A248 T253 |
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Conservation information for LBS of SF1 |
Multiple alignments for Q15637 in multiple species |
LBS | AA sequence | # species | Species |
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