|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for SRSF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SRSF1 |
| Gene name | serine/arginine-rich splicing factor 1 | |
| Synonyms | ASF|SF2|SF2p33|SFRS1|SRp30a | |
| Cytomap | UCSC genome browser: 17q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001078166.1, NM_006924.4,NR_034041.1, | |
| Description | SR splicing factor 1alternative-splicing factor 1pre-mRNA-splicing factor SF2, P33 subunitsplicing factor 2splicing factor, arginine/serine-rich, 30-KD, A | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600812 | |
| HGNC : HGNC | ||
| HPRD : 02887 | ||
| Protein | UniProt: Q07955 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SRSF1 | |
| BioGPS: 6426 | ||
| Pathway | NCI Pathway Interaction Database: SRSF1 | |
| KEGG: SRSF1 | ||
| REACTOME: SRSF1 | ||
| Pathway Commons: SRSF1 | ||
| Context | iHOP: SRSF1 | |
| ligand binding site mutation search in PubMed: SRSF1 | ||
| UCL Cancer Institute: SRSF1 | ||
| 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 | GO:0000395 | mRNA 5'-splice site recognition | 9885563 |
| Top |
| Ligand binding site mutations for SRSF1 |
| 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 | D151 | D151H | BLCA | 1 | K138 | K138N | COAD | 1 | R154 | R154L | LUSC | 1 | H183 | R181G | LUSC | 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. |
| Top |
| Protein structure related information for SRSF1 |
| 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 | K138 | K138N | -1.4584088 | H183 | R181G | -1.3965691 | D151 | D151H | -1.0494845 | R154 | R154L | -0.80489074 |
| (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 SRSF1 from PDB |
| Top |
| Differential gene expression and gene-gene network for SRSF1 |
| 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) |
| Top |
| Top |
| Phenotype information for SRSF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0019693 | HIV Infections | 1 | Biomarker |
| umls:C0036341 | Schizophrenia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for SRSF1 |
| 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 SRSF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2m8d | B | K138 D151 R154 H183 |
| Top |
| Conservation information for LBS of SRSF1 |
| Multiple alignments for Q07955 in multiple species |
| LBS | AA sequence | # species | Species | A150 | GDVCYADVYRD | 3 | Homo sapiens, Bos taurus, Mus musculus | A150 | GDVCYADVFRD | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | A150 | GDVCFSQVYRD | 1 | Arabidopsis thaliana | A150 | GEVCFSQVFRD | 1 | Arabidopsis thaliana | A150 | GDVCYADVARD | 1 | Caenorhabditis elegans | D136 | SGSWQDLKDHM | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D136 | SASWQDLKDHM | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D136 | TGSWQDLKDHM | 1 | Caenorhabditis elegans | D139 | WQDLKDHMREA | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D139 | WQDLKDHMRKG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D139 | WQDLKDHMRDA | 1 | Caenorhabditis elegans | D151 | DVCYADVYRDG | 3 | Homo sapiens, Bos taurus, Mus musculus | D151 | DVCYADVFRDG | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | D151 | DVCFSQVYRDA | 1 | Arabidopsis thaliana | D151 | EVCFSQVFRDG | 1 | Arabidopsis thaliana | D151 | DVCYADVARDG | 1 | Caenorhabditis elegans | E184 | KFRSHEGETAY | 7 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | E184 | EFRNAFSN-GY | 1 | Arabidopsis thaliana | E184 | EFRNAFSH-EY | 1 | Arabidopsis thaliana | G110 | GGAPRGRYGPP | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | G110 | RGDGGS--RGP | 1 | Arabidopsis thaliana | G110 | GGDGGGRERGP | 1 | Arabidopsis thaliana | G110 | RGGGRG--GGP | 1 | Caenorhabditis elegans | G113 | PRGRYGPPSRR | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | G113 | GGS--RGPSRR | 1 | Arabidopsis thaliana | G113 | GGGRERGPSRR | 1 | Arabidopsis thaliana | G113 | GRG--GGPQRR | 1 | Caenorhabditis elegans | H183 | TKFRSHEGETA | 7 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | H183 | TEFRNAFSN-G | 1 | Arabidopsis thaliana | H183 | TEFRNAFSH-E | 1 | Arabidopsis thaliana | K138 | SWQDLKDHMRE | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | K138 | SWQDLKDHMRK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K138 | SWQDLKDHMRD | 1 | Caenorhabditis elegans | P108 | -GGGAPRGRYG | 5 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus | P108 | -GRGDGGS--R | 1 | Arabidopsis thaliana | P108 | -GGGDGGGRER | 1 | Arabidopsis thaliana | P108 | -GRGGGRG--G | 1 | Caenorhabditis elegans | P108 | GGGGAPRGRYG | 1 | Xenopus tropicalis | P115 | GRYGPPSRRSE | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | P115 | S--RGPSRRSE | 1 | Arabidopsis thaliana | P115 | GRERGPSRRSE | 1 | Arabidopsis thaliana | P115 | G--GGPQRRTG | 1 | Caenorhabditis elegans | Q135 | PSGSWQDLKDH | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | Q135 | SSASWQDLKDH | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q135 | PTGSWQDLKDH | 1 | Caenorhabditis elegans | R109 | GGGAPRGRYGP | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | R109 | GRGDGGS--RG | 1 | Arabidopsis thaliana | R109 | GGGDGGGRERG | 1 | Arabidopsis thaliana | R109 | GRGGGRG--GG | 1 | Caenorhabditis elegans | R111 | GAPRGRYGPPS | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | R111 | GDGGS--RGPS | 1 | Arabidopsis thaliana | R111 | GDGGGRERGPS | 1 | Arabidopsis thaliana | R111 | GGGRG--GGPQ | 1 | Caenorhabditis elegans | R117 | YGPPSRRSENR | 3 | Homo sapiens, Bos taurus, Mus musculus | R117 | YGPPSRRSEYR | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | R117 | -RGPSRRSEFR | 1 | Arabidopsis thaliana | R117 | ERGPSRRSEYR | 1 | Arabidopsis thaliana | R117 | -GGPQRRTGYR | 1 | Caenorhabditis elegans | R154 | YADVYRDG--- | 3 | Homo sapiens, Bos taurus, Mus musculus | R154 | YADVFRDG--- | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | R154 | FSQVYRDARGT | 1 | Arabidopsis thaliana | R154 | FSQVFRDGRGT | 1 | Arabidopsis thaliana | R154 | YADVARDG--- | 1 | Caenorhabditis elegans | S116 | RYGPPSRRSEN | 3 | Homo sapiens, Bos taurus, Mus musculus | S116 | RYGPPSRRSEY | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | S116 | --RGPSRRSEF | 1 | Arabidopsis thaliana | S116 | RERGPSRRSEY | 1 | Arabidopsis thaliana | S116 | --GGPQRRTGY | 1 | Caenorhabditis elegans | S133 | LPPSGSWQDLK | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | S133 | LPSSASWQDLK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S133 | LPPTGSWQDLK | 1 | Caenorhabditis elegans | W134 | PPSGSWQDLKD | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | W134 | PSSASWQDLKD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | W134 | PPTGSWQDLKD | 1 | Caenorhabditis elegans | Y112 | APRGRYGPPSR | 6 | Homo sapiens, Gallus gallus, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | Y112 | DGGS--RGPSR | 1 | Arabidopsis thaliana | Y112 | DGGGRERGPSR | 1 | Arabidopsis thaliana | Y112 | GGRG--GGPQR | 1 | Caenorhabditis elegans | Y149 | AGDVCYADVYR | 3 | Homo sapiens, Bos taurus, Mus musculus | Y149 | AGDVCYADVFR | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | Y149 | GGDVCFSQVYR | 1 | Arabidopsis thaliana | Y149 | GGEVCFSQVFR | 1 | Arabidopsis thaliana | Y149 | AGDVCYADVAR | 1 | Caenorhabditis elegans | Y153 | CYADVYRDG-- | 3 | Homo sapiens, Bos taurus, Mus musculus | Y153 | CYADVFRDG-- | 3 | Gallus gallus, Danio rerio, Xenopus tropicalis | Y153 | CFSQVYRDARG | 1 | Arabidopsis thaliana | Y153 | CFSQVFRDGRG | 1 | Arabidopsis thaliana | Y153 | CYADVARDG-- | 1 | Caenorhabditis elegans |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |