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mutLBSgeneDB |
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| Gene summary for SPG7 |
 Gene summary |
| Basic gene Info. | Gene symbol | SPG7 |
| Gene name | spastic paraplegia 7 (pure and complicated autosomal recessive) | |
| Synonyms | CAR|CMAR|PGN|SPG5C | |
| Cytomap | UCSC genome browser: 16q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003119.3, NM_199367.2, | |
| Description | cell matrix adhesion regulatorparapleginspastic paraplegia 7 protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 602783 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197912 | ||
| HPRD : 04149 | ||
| Vega : OTTHUMG00000138046 | ||
| Protein | UniProt: Q9UQ90 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SPG7 | |
| BioGPS: 6687 | ||
| Pathway | NCI Pathway Interaction Database: SPG7 | |
| KEGG: SPG7 | ||
| REACTOME: SPG7 | ||
| Pathway Commons: SPG7 | ||
| Context | iHOP: SPG7 | |
| ligand binding site mutation search in PubMed: SPG7 | ||
| UCL Cancer Institute: SPG7 | ||
| 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 SPG7 |
| 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 | A312 | G313R | COAD | 1 | A519 | A519T | COAD | 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 SPG7 |
| 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 | A519 | A519T | -1.0632215 | A312 | G313R | -0.6129193 |
| (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 SPG7 from PDB |
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| Differential gene expression and gene-gene network for SPG7 |
| 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 SPG7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1846564 | Spastic Paraplegia 7, Autosomal Recessive | 2 | Biomarker, GeneticVariation |
| umls:C0030486 | Paraplegia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SPG7 |
| 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 SPG7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 2qz4 | A | A312 A519 |
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| Conservation information for LBS of SPG7 |
| Multiple alignments for Q9UQ90 in multiple species |
| LBS | AA sequence | # species | Species | A312 | SFQDVAGMHEA | 2 | Mus musculus, Rattus norvegicus | A312 | SFKDVAGMHEA | 1 | Homo sapiens | A519 | PGFSGADIANI | 2 | Homo sapiens, Mus musculus | A519 | PGFS------- | 1 | Rattus norvegicus | C353 | LGPPGCGKTLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D310 | GVSFQDVAGMH | 2 | Mus musculus, Rattus norvegicus | D310 | GVSFKDVAGMH | 1 | Homo sapiens | G352 | LLGPPGCGKTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G354 | GPPGCGKTLLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G518 | TPGFSGADIAN | 2 | Homo sapiens, Mus musculus | G518 | TPGFS------ | 1 | Rattus norvegicus | H492 | EIFEQHLKGLK | 2 | Mus musculus, Rattus norvegicus | H492 | EIFEQHLKSLK | 1 | Homo sapiens | K355 | PPGCGKTLLAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L357 | GCGKTLLAKAV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P351 | LLLGPPGCGKT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T356 | PGCGKTLLAKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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