mutLBSgeneDB |
Gene summary for SPSB1 |
Gene summary |
Basic gene Info. | Gene symbol | SPSB1 |
Gene name | splA/ryanodine receptor domain and SOCS box containing 1 | |
Synonyms | SSB-1|SSB1 | |
Cytomap | UCSC genome browser: 1p36.22 | |
Type of gene | protein-coding | |
RefGenes | NM_025106.3, | |
Description | SPRY domain-containing SOCS box protein 1SPRY domain-containing SOCS box protein SSB-1novel SPRY domain containing protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 611657 | |
HGNC : HGNC | ||
Ensembl : ENSG00000171621 | ||
HPRD : 18106 | ||
Vega : OTTHUMG00000001279 | ||
Protein | UniProt: Q96BD6 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SPSB1 | |
BioGPS: 80176 | ||
Pathway | NCI Pathway Interaction Database: SPSB1 | |
KEGG: SPSB1 | ||
REACTOME: SPSB1 | ||
Pathway Commons: SPSB1 | ||
Context | iHOP: SPSB1 | |
ligand binding site mutation search in PubMed: SPSB1 | ||
UCL Cancer Institute: SPSB1 | ||
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 SPSB1 |
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 | N64 | F66S | KIRC | 1 | V80 | V80L | LUAD | 1 | P79 | P79S | SKCM | 1 | T111 | A113T | 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 SPSB1 |
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 | N64 | F66S | -1.4474626 | P79 | P79S | -0.90061408 | T111 | A113T | -0.6791465 | V80 | V80L | -0.33743567 |
(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 SPSB1 from PDB |
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Differential gene expression and gene-gene network for SPSB1 |
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 SPSB1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for SPSB1 |
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 SPSB1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,ILE,ASN,ASN,ASN,ASN,ASN,ILE,VAL,GLU,ASP,VAL,GLU,ARG,LYS,ARG,GLU,PHE) | 3f2o | A | N64 P79 V80 T111 | III | Peptide ligand (ASP,ILE,ASN,ASN,ASN,ASN,ASN,ILE,VAL,GLU,ASP,VAL,GLU,ARG,LYS) | 3f2o | B | N64 P79 V80 T111 | III | Peptide ligand (ASN,GLU,LEU,ASN,ASN,ASN,LEU,PRO) | 2jk9 | A | P79 V80 T111 |
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Conservation information for LBS of SPSB1 |
Multiple alignments for Q96BD6 in multiple species |
LBS | AA sequence | # species | Species | A81 | HRHPVAQSTDA | 3 | Homo sapiens, Mus musculus, Bos taurus | G110 | AMRQRGTHAVV | 3 | Homo sapiens, Mus musculus, Bos taurus | G218 | VSAVWGHCEIR | 3 | Homo sapiens, Mus musculus, Bos taurus | H125 | ADAPLHSVGYT | 3 | Homo sapiens, Mus musculus, Bos taurus | L63 | NNDRSLNVFVK | 3 | Homo sapiens, Mus musculus, Bos taurus | N64 | NDRSLNVFVKE | 3 | Homo sapiens, Mus musculus, Bos taurus | P79 | IFHRHPVAQST | 3 | Homo sapiens, Mus musculus, Bos taurus | R77 | KLIFHRHPVAQ | 3 | Homo sapiens, Mus musculus, Bos taurus | S62 | NNNDRSLNVFV | 3 | Homo sapiens, Mus musculus, Bos taurus | T111 | MRQRGTHAVVG | 3 | Homo sapiens, Mus musculus, Bos taurus | V127 | APLHSVGYTTL | 3 | Homo sapiens, Mus musculus, Bos taurus | V216 | PVVSAVWGHCE | 3 | Homo sapiens, Mus musculus, Bos taurus | V80 | FHRHPVAQSTD | 3 | Homo sapiens, Mus musculus, Bos taurus | W217 | VVSAVWGHCEI | 3 | Homo sapiens, Mus musculus, Bos taurus | Y129 | LHSVGYTTLVG | 3 | Homo sapiens, Mus musculus, Bos taurus |
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