mutLBSgeneDB |
Gene summary for SUFU |
Gene summary |
Basic gene Info. | Gene symbol | SUFU |
Gene name | suppressor of fused homolog (Drosophila) | |
Synonyms | PRO1280|SUFUH|SUFUXL | |
Cytomap | UCSC genome browser: 10q24.32 | |
Type of gene | protein-coding | |
RefGenes | NM_001178133.1, NM_016169.3, | |
Description | suppressor of fused homolog | |
Modification date | 20141207 | |
dbXrefs | MIM : 607035 | |
HGNC : HGNC | ||
Ensembl : ENSG00000107882 | ||
HPRD : 06124 | ||
Vega : OTTHUMG00000018966 | ||
Protein | UniProt: Q9UMX1 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SUFU | |
BioGPS: 51684 | ||
Pathway | NCI Pathway Interaction Database: SUFU | |
KEGG: SUFU | ||
REACTOME: SUFU | ||
Pathway Commons: SUFU | ||
Context | iHOP: SUFU | |
ligand binding site mutation search in PubMed: SUFU | ||
UCL Cancer Institute: SUFU | ||
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:0000122 | negative regulation of transcription from RNA polymerase II promoter | 10564661 |
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Ligand binding site mutations for SUFU |
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 | Y147 | V148M | UCEC | 1 | L144 | A145T | 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 SUFU |
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 | Y147 | V148M | -0.88814049 | L144 | A145T | -0.53007457 |
(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 SUFU from PDB |
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Differential gene expression and gene-gene network for SUFU |
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 SUFU |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0025149 | Medulloblastoma | 9 | Biomarker, GeneticVariation |
umls:C0004779 | Basal Cell Nevus Syndrome | 5 | Biomarker, GeneticVariation |
umls:C0751291 | Desmoplastic medulloblastoma | 3 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for SUFU |
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 SUFU go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLY,SER,TYR,GLY,HIS,LEU,SER,ILE,GLY,THR) | 4kmd | A | Y147 |
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Conservation information for LBS of SUFU |
Multiple alignments for Q9UMX1 in multiple species |
LBS | AA sequence | # species | Species |
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