mutLBSgeneDB |
Gene summary for ELAVL1 |
Gene summary |
Basic gene Info. | Gene symbol | ELAVL1 |
Gene name | ELAV like RNA binding protein 1 | |
Synonyms | ELAV1|HUR|Hua|MelG | |
Cytomap | UCSC genome browser: 19p13.2 | |
Type of gene | protein-coding | |
RefGenes | NM_001419.2, | |
Description | ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)ELAV-like protein 1Hu antigen Rembryonic lethal, abnormal vision, drosophila, homolog-like 1hu-antigen R | |
Modification date | 20141222 | |
dbXrefs | MIM : 603466 | |
HGNC : HGNC | ||
Ensembl : ENSG00000066044 | ||
HPRD : 16025 | ||
Vega : OTTHUMG00000182470 | ||
Protein | UniProt: Q15717 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ELAVL1 | |
BioGPS: 1994 | ||
Pathway | NCI Pathway Interaction Database: ELAVL1 | |
KEGG: ELAVL1 | ||
REACTOME: ELAVL1 | ||
Pathway Commons: ELAVL1 | ||
Context | iHOP: ELAVL1 | |
ligand binding site mutation search in PubMed: ELAVL1 | ||
UCL Cancer Institute: ELAVL1 | ||
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:0045727 | positive regulation of translation | 21613615 | GO:0048255 | mRNA stabilization | 21613615 | GO:0070935 | 3'-UTR-mediated mRNA stabilization | 14517288 |
Top |
Ligand binding site mutations for ELAVL1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | A10 | E11K | BRCA | 1 | N21 | T20M | COAD | 1 | S100 | E101G | KIRC | 1 | R153 | D155H | LUAD | 1 | Q29 | Q29H | LUAD | 1 | N21 | R19K | SKCM | 1 | R97 | R97H | STAD | 1 | Q29 | P28H | STAD | 1 | R53 | R53W | 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. |
Top |
Protein structure related information for ELAVL1 |
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 | N21 | T20M | 0.1762491 | A10 | E11K | -1.5704944 | R53 | R53W | -1.5248783 | R97 | R97H | -1.3132184 | N21 | R19K | -1.0239435 | Q29 | P28H | -1.0210283 | S100 | E101G | -0.99528148 | R153 | D155H | -0.90197554 | Q29 | Q29H | -0.85116362 |
(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 ELAVL1 from PDB |
Top |
Differential gene expression and gene-gene network for ELAVL1 |
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) |
Top |
Top |
Phenotype information for ELAVL1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0014175 | Endometriosis | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
Top |
Pharmacological information for ELAVL1 |
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 ELAVL1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4ed5 | A | N21 Q29 R97 S100 R153 | NUC | Nucleic Acids | 4ed5 | B | N21 R53 R97 S100 R153 |
Top |
Conservation information for LBS of ELAVL1 |
Multiple alignments for Q15717 in multiple species |
LBS | AA sequence | # species | Species | A10 | YEDHMAEDCRG | 1 | Homo sapiens | A10 | YGDHMDDVCRD | 1 | Xenopus tropicalis | A10 | YEDHMAEDCRD | 1 | Mus musculus | A106 | EVIKDANLYIS | 2 | Homo sapiens, Mus musculus | A106 | ESIKDANLYIS | 1 | Xenopus tropicalis | A96 | IKVSYARPSSE | 2 | Homo sapiens, Mus musculus | A96 | IKVSVARPSSE | 1 | Xenopus tropicalis | F151 | SRGVAFIRFDK | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | F65 | SLGYGFVNYVT | 2 | Homo sapiens, Mus musculus | F65 | SLGYGFVNYLN | 1 | Xenopus tropicalis | H59 | DKVAGHSLGYG | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | I103 | PSSEVIKDANL | 2 | Homo sapiens, Mus musculus | I103 | PSSESIKDANL | 1 | Xenopus tropicalis | I133 | RFGRIINSRVL | 2 | Homo sapiens, Mus musculus | I133 | PFGRIINSRVL | 1 | Xenopus tropicalis | I23 | GRTNLIVNYLP | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | I52 | ESAKLIRDKVA | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K104 | SSEVIKDANLY | 2 | Homo sapiens, Mus musculus | K104 | SSESIKDANLY | 1 | Xenopus tropicalis | K182 | EPITVKFAANP | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K50 | EVESAKLIRDK | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K89 | LRLQSKTIKVS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K92 | QSKTIKVSYAR | 2 | Homo sapiens, Mus musculus | K92 | QSKTIKVSVAR | 1 | Xenopus tropicalis | L138 | INSRVLVDQTT | 2 | Homo sapiens, Mus musculus | L138 | INSRVLVDQAT | 1 | Xenopus tropicalis | L61 | VAGHSLGYGFV | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | N107 | VIKDANLYISG | 2 | Homo sapiens, Mus musculus | N107 | SIKDANLYISG | 1 | Xenopus tropicalis | N134 | FGRIINSRVLV | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | N21 | DIGRTNLIVNY | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | N25 | TNLIVNYLPQN | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | Q29 | VNYLPQNMTQD | 2 | Homo sapiens, Xenopus tropicalis | Q29 | VNYLPQNMTQE | 1 | Mus musculus | R136 | RIINSRVLVDQ | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R147 | TTGLSRGVAFI | 2 | Homo sapiens, Mus musculus | R147 | ATGLSRGVAFI | 1 | Xenopus tropicalis | R153 | GVAFIRFDKRS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R53 | SAKLIRDKVAG | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R97 | KVSYARPSSEV | 2 | Homo sapiens, Mus musculus | R97 | KVSVARPSSES | 1 | Xenopus tropicalis | S100 | YARPSSEVIKD | 2 | Homo sapiens, Mus musculus | S100 | VARPSSESIKD | 1 | Xenopus tropicalis | S60 | KVAGHSLGYGF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | S99 | SYARPSSEVIK | 2 | Homo sapiens, Mus musculus | S99 | SVARPSSESIK | 1 | Xenopus tropicalis | T90 | RLQSKTIKVSY | 2 | Homo sapiens, Mus musculus | T90 | RLQSKTIKVSV | 1 | Xenopus tropicalis | Y109 | KDANLYISGLP | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | Y26 | NLIVNYLPQNM | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | Y63 | GHSLGYGFVNY | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |