|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for ISPD |
 Gene summary |
| Basic gene Info. | Gene symbol | ISPD |
| Gene name | isoprenoid synthase domain containing | |
| Synonyms | MDDGA7|MDDGC7|Nip|hCG_1745121 | |
| Cytomap | UCSC genome browser: 7p21.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001101417.3, NM_001101426.3, | |
| Description | 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein4-diphosphocytidyl-2C-methyl-D-erythritol synthase homologisoprenoid synthase domain-containing proteinnotch1-induced protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 614631 | |
| HGNC : HGNC | ||
| Protein | UniProt: A4D126 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ISPD | |
| BioGPS: 729920 | ||
| Pathway | NCI Pathway Interaction Database: ISPD | |
| KEGG: ISPD | ||
| REACTOME: ISPD | ||
| Pathway Commons: ISPD | ||
| Context | iHOP: ISPD | |
| ligand binding site mutation search in PubMed: ISPD | ||
| UCL Cancer Institute: ISPD | ||
| 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 ISPD |
| 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 | E235 | E235K | COAD | 1 | H127 | H127Q | STAD | 1 | E235 | E235A | 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 ISPD |
| 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 | E235 | E235A | -1.4371795 | E235 | E235K | -1.3592547 | H127 | H127Q | -0.83690494 |
| (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 ISPD from PDB |
| Top |
| Differential gene expression and gene-gene network for ISPD |
| 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 ISPD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0265221 | Walker-Warburg Syndrome | 4 | Biomarker |
| umls:C0015393 | Eye Abnormalities | 1 | Biomarker |
| umls:C0020255 | Hydrocephalus | 1 | Biomarker |
| umls:C0026848 | Muscular Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for ISPD |
| 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 ISPD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 4cvh | A | H127 E235 |
| Top |
| Conservation information for LBS of ISPD |
| Multiple alignments for A4D126 in multiple species |
| LBS | AA sequence | # species | Species | E235 | SDYDLEFGTEC | 2 | Homo sapiens, Bos taurus | E235 | SDFDLEFGTEC | 2 | Mus musculus, Rattus norvegicus | E235 | SEFDLEFGTEC | 1 | Danio rerio | E235 | TDYDLDFGTEC | 1 | Xenopus tropicalis | G237 | FDLEFGTECLQ | 2 | Mus musculus, Rattus norvegicus | G237 | YDLEFGTECLQ | 1 | Homo sapiens | G237 | FDLEFGTECLH | 1 | Danio rerio | G237 | YDLDFGTECLH | 1 | Xenopus tropicalis | G237 | YDLEFGTECLH | 1 | Bos taurus | H127 | AGVTRHRSIFN | 2 | Homo sapiens, Bos taurus | H127 | AGATRHRSIFN | 2 | Mus musculus, Rattus norvegicus | H127 | GGTTRHRSIYN | 1 | Danio rerio | H127 | GGETRHRSIFN | 1 | Xenopus tropicalis | L234 | CSDYDLEFGTE | 2 | Homo sapiens, Bos taurus | L234 | CSDFDLEFGTE | 2 | Mus musculus, Rattus norvegicus | L234 | CSEFDLEFGTE | 1 | Danio rerio | L234 | CTDYDLDFGTE | 1 | Xenopus tropicalis | R126 | EAGVTRHRSIF | 2 | Homo sapiens, Bos taurus | R126 | EAGATRHRSIF | 2 | Mus musculus, Rattus norvegicus | R126 | HGGTTRHRSIY | 1 | Danio rerio | R126 | KGGETRHRSIF | 1 | Xenopus tropicalis | T125 | VEAGVTRHRSI | 2 | Homo sapiens, Bos taurus | T125 | AEAGATRHRSI | 2 | Mus musculus, Rattus norvegicus | T125 | VHGGTTRHRSI | 1 | Danio rerio | T125 | VKGGETRHRSI | 1 | Xenopus tropicalis |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |