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mutLBSgeneDB |
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| Gene summary for E2F8 |
 Gene summary |
| Basic gene Info. | Gene symbol | E2F8 |
| Gene name | E2F transcription factor 8 | |
| Synonyms | E2F-8 | |
| Cytomap | UCSC genome browser: 11p15.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001256371.1, NM_001256372.1,NM_024680.3, | |
| Description | E2F family member 8transcription factor E2F8 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612047 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000129173 | ||
| HPRD : 10981 | ||
| Vega : OTTHUMG00000166102 | ||
| Protein | UniProt: A0AVK6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_E2F8 | |
| BioGPS: 79733 | ||
| Pathway | NCI Pathway Interaction Database: E2F8 | |
| KEGG: E2F8 | ||
| REACTOME: E2F8 | ||
| Pathway Commons: E2F8 | ||
| Context | iHOP: E2F8 | |
| ligand binding site mutation search in PubMed: E2F8 | ||
| UCL Cancer Institute: E2F8 | ||
| 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 | 16179649 |
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| Ligand binding site mutations for E2F8 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y158 | D159N | BLCA | 1 | Y316 | D317N | BLCA | 1 | R313 | R313W | COAD | 1 | N162 | V161M | STAD | 1 | R154 | R154L | STAD | 1 | K264 | K264N | 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 E2F8 |
| 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 | Y158 | D159N | -1.1382338 | Y316 | D317N | -1.0854118 | N162 | V161M | -1.0041835 | R154 | R154L | -0.83318394 | R313 | R313W | -0.75638615 | K264 | K264N | -0.47663556 |
| (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 E2F8 from PDB |
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| Differential gene expression and gene-gene network for E2F8 |
| 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 E2F8 |
| 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 E2F8 |
| 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 E2F8 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4yo2 | A | R154 Y158 N162 K264 R313 | NUC | Nucleic Acids | 4yo2 | A | R313 Y316 |
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| Conservation information for LBS of E2F8 |
| Multiple alignments for A0AVK6 in multiple species |
| LBS | AA sequence | # species | Species | E153 | EELNVERRRIY | 3 | Homo sapiens, Mus musculus, Bos taurus | K114 | SQPSRKEKSLG | 3 | Homo sapiens, Mus musculus, Bos taurus | K116 | PSRKEKSLGLL | 3 | Homo sapiens, Mus musculus, Bos taurus | K175 | VSRLAKNRYTW | 3 | Homo sapiens, Mus musculus, Bos taurus | K264 | NSRKDKSLRVM | 2 | Homo sapiens, Mus musculus | K264 | NSRKDKSLKVM | 1 | Bos taurus | K307 | DLDKSKFKTKI | 1 | Homo sapiens | K307 | DLDKSKYKTKI | 1 | Mus musculus | K307 | DLDRSKFKTKI | 1 | Bos taurus | L118 | RKEKSLGLLCH | 3 | Homo sapiens, Mus musculus, Bos taurus | L266 | RKDKSLRVMSQ | 2 | Homo sapiens, Mus musculus | L266 | RKDKSLKVMSQ | 1 | Bos taurus | N162 | IYDIVNVLESL | 3 | Homo sapiens, Mus musculus, Bos taurus | N176 | SRLAKNRYTWH | 3 | Homo sapiens, Mus musculus, Bos taurus | N320 | LYDIANVLSSL | 3 | Homo sapiens, Mus musculus, Bos taurus | R113 | KSQPSRKEKSL | 3 | Homo sapiens, Mus musculus, Bos taurus | R154 | ELNVERRRIYD | 3 | Homo sapiens, Mus musculus, Bos taurus | R155 | LNVERRRIYDI | 3 | Homo sapiens, Mus musculus, Bos taurus | R156 | NVERRRIYDIV | 3 | Homo sapiens, Mus musculus, Bos taurus | R172 | LHMVSRLAKNR | 3 | Homo sapiens, Mus musculus, Bos taurus | R267 | KDKSLRVMSQK | 2 | Homo sapiens, Mus musculus | R267 | KDKSLKVMSQK | 1 | Bos taurus | R313 | FKTKIRRLYDI | 2 | Homo sapiens, Bos taurus | R313 | YKTKIRRLYDI | 1 | Mus musculus | R314 | KTKIRRLYDIA | 3 | Homo sapiens, Mus musculus, Bos taurus | S112 | EKSQPSRKEKS | 3 | Homo sapiens, Mus musculus, Bos taurus | S117 | SRKEKSLGLLC | 3 | Homo sapiens, Mus musculus, Bos taurus | T310 | KSKFKTKIRRL | 1 | Homo sapiens | T310 | KSKYKTKIRRL | 1 | Mus musculus | T310 | RSKFKTKIRRL | 1 | Bos taurus | V333 | IKKVHVTEERG | 3 | Homo sapiens, Mus musculus, Bos taurus | Y158 | ERRRIYDIVNV | 3 | Homo sapiens, Mus musculus, Bos taurus | Y316 | KIRRLYDIANV | 3 | Homo sapiens, Mus musculus, Bos taurus |
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