|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for EHD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | EHD1 |
| Gene name | EH-domain containing 1 | |
| Synonyms | H-PAST|HPAST1|PAST|PAST1 | |
| Cytomap | UCSC genome browser: 11q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001282444.1, NM_001282445.1,NM_006795.3, | |
| Description | EH domain-containing protein 1PAST homolog 1testilin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605888 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000110047 | ||
| HPRD : 09325 | ||
| Vega : OTTHUMG00000066832 | ||
| Protein | UniProt: Q9H4M9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EHD1 | |
| BioGPS: 10938 | ||
| Pathway | NCI Pathway Interaction Database: EHD1 | |
| KEGG: EHD1 | ||
| REACTOME: EHD1 | ||
| Pathway Commons: EHD1 | ||
| Context | iHOP: EHD1 | |
| ligand binding site mutation search in PubMed: EHD1 | ||
| UCL Cancer Institute: EHD1 | ||
| 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 |
| Top |
| Ligand binding site mutations for EHD1 |
| 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 | G464 | T463M | COAD | 1 | D489 | D489N | STAD | 1 | K468 | K468N | 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 EHD1 |
| 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 | K468 | K468N | -1.2113688 | D489 | D489N | -1.0815395 | G464 | T463M | -0.55821276 |
| (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 EHD1 from PDB |
| Top |
| Differential gene expression and gene-gene network for EHD1 |
| 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 EHD1 |
| 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 |
| Top |
| Pharmacological information for EHD1 |
| 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 EHD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of EHD1 |
| Multiple alignments for Q9H4M9 in multiple species |
| LBS | AA sequence | # species | Species | A467 | ITGANAKKEMV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A467 | ----------- | 1 | Arabidopsis thaliana | D489 | IWKLADVDKDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D489 | ----------- | 1 | Arabidopsis thaliana | D489 | IWKLADVDRDG | 1 | Bos taurus | D491 | KLADVDKDGLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D491 | ----------- | 1 | Arabidopsis thaliana | D491 | KLADVDRDGLL | 1 | Bos taurus | D493 | ADVDKDGLLDD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D493 | ----------- | 1 | Arabidopsis thaliana | D493 | ADVDRDGLLDD | 1 | Bos taurus | E500 | LLDDEEFALAN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E500 | ----------- | 1 | Arabidopsis thaliana | G464 | NGKITGANAKK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G464 | ----------- | 1 | Arabidopsis thaliana | G482 | PNTVLGKIWKL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G482 | ----------- | 1 | Arabidopsis thaliana | G494 | DVDKDGLLDDE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G494 | ----------- | 1 | Arabidopsis thaliana | G494 | DVDRDGLLDDE | 1 | Bos taurus | K461 | SPVNGKITGAN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K461 | ----------- | 1 | Arabidopsis thaliana | K468 | TGANAKKEMVK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K468 | ----------- | 1 | Arabidopsis thaliana | K483 | NTVLGKIWKLA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K483 | ----------- | 1 | Arabidopsis thaliana | K486 | LGKIWKLADVD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K486 | ----------- | 1 | Arabidopsis thaliana | K492 | LADVDKDGLLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K492 | ----------- | 1 | Arabidopsis thaliana | K492 | LADVDRDGLLD | 1 | Bos taurus | L481 | LPNTVLGKIWK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L481 | ----------- | 1 | Arabidopsis thaliana | L495 | VDKDGLLDDEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L495 | ----------- | 1 | Arabidopsis thaliana | L495 | VDRDGLLDDEE | 1 | Bos taurus | L496 | DKDGLLDDEEF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L496 | ----------- | 1 | Arabidopsis thaliana | L496 | DRDGLLDDEEF | 1 | Bos taurus | M471 | NAKKEMVKSKL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M471 | ----------- | 1 | Arabidopsis thaliana | N478 | KSKLPNTVLGK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N478 | ----------- | 1 | Arabidopsis thaliana | W485 | VLGKIWKLADV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W485 | ----------- | 1 | Arabidopsis thaliana |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |