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mutLBSgeneDB |
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| Gene summary for SUB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SUB1 |
| Gene name | SUB1 homolog (S. cerevisiae) | |
| Synonyms | P15|PC4|p14 | |
| Cytomap | UCSC genome browser: 5p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006713.3, | |
| Description | activated RNA polymerase II transcription cofactor 4activated RNA polymerase II transcriptional coactivator p15positive cofactor 4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600503 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113387 | ||
| HPRD : 02737 | ||
| Vega : OTTHUMG00000131071 | ||
| Protein | UniProt: P53999 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SUB1 | |
| BioGPS: 10923 | ||
| Pathway | NCI Pathway Interaction Database: SUB1 | |
| KEGG: SUB1 | ||
| REACTOME: SUB1 | ||
| Pathway Commons: SUB1 | ||
| Context | iHOP: SUB1 | |
| ligand binding site mutation search in PubMed: SUB1 | ||
| UCL Cancer Institute: SUB1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006357 | regulation of transcription from RNA polymerase II promoter | 8062391 |
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| Ligand binding site mutations for SUB1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R86 | R86K | COAD | 1 | R75 | R75H | LUSC | 1 | R70 | Y71H | STAD | 1 | R75,F77 | D76N | 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 SUB1 |
| 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 |
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| 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 | R75 | R75H | -1.5005238 | R70 | Y71H | -1.1349066 | R86 | R86K | -1.1049543 | R75 | D76N | -0.62900816 | F77 | D76N | -0.62900816 |
| (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 SUB1 from PDB |
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| Differential gene expression and gene-gene network for SUB1 |
| 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 SUB1 |
| 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 SUB1 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SUB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2c62 | A | R70 R75 F77 R86 | NUC | Nucleic Acids | 2c62 | B | R70 R75 F77 R86 | NUC | Nucleic Acids | 4usg | A | R70 R75 F77 R86 | NUC | Nucleic Acids | 4usg | B | R70 R75 F77 R86 |
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| Conservation information for LBS of SUB1 |
| Multiple alignments for P53999 in multiple species |
| LBS | AA sequence | # species | Species | D84 | GKVLIDIREYW | 2 | Homo sapiens, Gallus gallus | D84 | GKILIDIREYW | 2 | Mus musculus, Rattus norvegicus | D91 | REYWMDSEGEM | 2 | Mus musculus, Rattus norvegicus | D91 | REYWMDPEGEM | 1 | Homo sapiens | D91 | REYWMDQEGEM | 1 | Gallus gallus | E108 | ISLNMEQWSQL | 2 | Mus musculus, Rattus norvegicus | E108 | ISLNPEQWSQL | 1 | Homo sapiens | E108 | ISLNPEQWNQL | 1 | Gallus gallus | E93 | YWMDSEGEMKP | 2 | Mus musculus, Rattus norvegicus | E93 | YWMDPEGEMKP | 1 | Homo sapiens | E93 | YWMDQEGEMKP | 1 | Gallus gallus | E95 | MDSEGEMKPGR | 2 | Mus musculus, Rattus norvegicus | E95 | MDPEGEMKPGR | 1 | Homo sapiens | E95 | MDQEGEMKPGR | 1 | Gallus gallus | F77 | VSVRDFKGKVL | 2 | Homo sapiens, Gallus gallus | F77 | VSVRDFKGKIL | 2 | Mus musculus, Rattus norvegicus | G102 | KPGRKGISLNP | 2 | Homo sapiens, Gallus gallus | G102 | KPGRKGISLNM | 2 | Mus musculus, Rattus norvegicus | G67 | NMFQIGKMRYV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G99 | GEMKPGRKGIS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I103 | PGRKGISLNPE | 2 | Homo sapiens, Gallus gallus | I103 | PGRKGISLNME | 2 | Mus musculus, Rattus norvegicus | I83 | KGKVLIDIREY | 2 | Homo sapiens, Gallus gallus | I83 | KGKILIDIREY | 2 | Mus musculus, Rattus norvegicus | K101 | MKPGRKGISLN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K68 | MFQIGKMRYVS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K78 | SVRDFKGKVLI | 2 | Homo sapiens, Gallus gallus | K78 | SVRDFKGKILI | 2 | Mus musculus, Rattus norvegicus | K80 | RDFKGKVLIDI | 2 | Homo sapiens, Gallus gallus | K80 | RDFKGKILIDI | 2 | Mus musculus, Rattus norvegicus | K97 | SEGEMKPGRKG | 2 | Mus musculus, Rattus norvegicus | K97 | PEGEMKPGRKG | 1 | Homo sapiens | K97 | QEGEMKPGRKG | 1 | Gallus gallus | L105 | RKGISLNPEQW | 2 | Homo sapiens, Gallus gallus | L105 | RKGISLNMEQW | 2 | Mus musculus, Rattus norvegicus | L82 | FKGKVLIDIRE | 2 | Homo sapiens, Gallus gallus | L82 | FKGKILIDIRE | 2 | Mus musculus, Rattus norvegicus | M69 | FQIGKMRYVSV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | M90 | IREYWMDSEGE | 2 | Mus musculus, Rattus norvegicus | M90 | IREYWMDPEGE | 1 | Homo sapiens | M90 | IREYWMDQEGE | 1 | Gallus gallus | N106 | KGISLNMEQWS | 2 | Mus musculus, Rattus norvegicus | N106 | KGISLNPEQWS | 1 | Homo sapiens | N106 | KGISLNPEQWN | 1 | Gallus gallus | P98 | EGEMKPGRKGI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q109 | SLNMEQWSQLK | 2 | Mus musculus, Rattus norvegicus | Q109 | SLNPEQWSQLK | 1 | Homo sapiens | Q109 | SLNPEQWNQLK | 1 | Gallus gallus | Q112 | MEQWSQLKEQI | 2 | Mus musculus, Rattus norvegicus | Q112 | PEQWSQLKEQI | 1 | Homo sapiens | Q112 | PEQWNQLKEQI | 1 | Gallus gallus | Q65 | DDNMFQIGKMR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q65 | DENMFQIGKMR | 1 | Gallus gallus | R100 | EMKPGRKGISL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R70 | QIGKMRYVSVR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R75 | RYVSVRDFKGK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R86 | VLIDIREYWMD | 2 | Homo sapiens, Gallus gallus | R86 | ILIDIREYWMD | 2 | Mus musculus, Rattus norvegicus | S104 | GRKGISLNPEQ | 2 | Homo sapiens, Gallus gallus | S104 | GRKGISLNMEQ | 2 | Mus musculus, Rattus norvegicus | V81 | DFKGKVLIDIR | 2 | Homo sapiens, Gallus gallus | V81 | DFKGKILIDIR | 2 | Mus musculus, Rattus norvegicus | W89 | DIREYWMDSEG | 2 | Mus musculus, Rattus norvegicus | W89 | DIREYWMDPEG | 1 | Homo sapiens | W89 | DIREYWMDQEG | 1 | Gallus gallus |
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