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mutLBSgeneDB |
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| Gene summary for ELAVL4 |
 Gene summary |
| Basic gene Info. | Gene symbol | ELAVL4 |
| Gene name | ELAV like neuron-specific RNA binding protein 4 | |
| Synonyms | HUD|PNEM | |
| Cytomap | UCSC genome browser: 1p34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001144774.2, NM_001144775.2,NM_001144776.2,NM_001144777.2,NM_001294348.1, NM_021952.4, | |
| Description | ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)ELAV-like protein 4Hu antigen Dparaneoplastic encephalomyelitis antigen HuD | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 168360 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000162374 | ||
| HPRD : 01343 | ||
| Vega : OTTHUMG00000007877 | ||
| Protein | UniProt: P26378 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ELAVL4 | |
| BioGPS: 1996 | ||
| Pathway | NCI Pathway Interaction Database: ELAVL4 | |
| KEGG: ELAVL4 | ||
| REACTOME: ELAVL4 | ||
| Pathway Commons: ELAVL4 | ||
| Context | iHOP: ELAVL4 | |
| ligand binding site mutation search in PubMed: ELAVL4 | ||
| UCL Cancer Institute: ELAVL4 | ||
| 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 ELAVL4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F177 | F177L | COAD | 1 | N51,I49 | V50I | GBM | 1 | R123,S125 | P124L | HNSC | 1 | K208 | A210S | HNSC | 1 | A39 | T40N | LUAD | 1 | N47 | T46I | LUAD | 1 | R179 | D181N | LUSC | 1 | R173,V175 | G174E | SKCM | 1 | R173 | V171M | UCEC | 1 | N133,Y135 | L134F | UCEC | 1 | K208 | F209V | UCEC | 1 | N51 | N51S | 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 ELAVL4 |
| 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 | R123 | P124L | 0.32712752 | S125 | P124L | 0.32712752 | K208 | A210S | -1.3246506 | R179 | D181N | -1.1700838 | N133 | L134F | -1.1479956 | Y135 | L134F | -1.1479956 | R173 | V171M | -0.99161508 | A39 | T40N | -0.93633667 | K208 | F209V | -0.85603822 | I49 | V50I | -0.81436492 | N51 | V50I | -0.81436492 | N51 | N51S | -0.7174894 | V175 | G174E | -0.68850187 | R173 | G174E | -0.68850187 | N47 | T46I | -0.32205918 | F177 | F177L | -0.19839374 |
| (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 ELAVL4 from PDB |
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| Differential gene expression and gene-gene network for ELAVL4 |
| 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 ELAVL4 |
| 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 ELAVL4 |
| 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 ELAVL4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ELAVL4 |
| Multiple alignments for P26378 in multiple species |
| LBS | AA sequence | # species | Species |
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