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mutLBSgeneDB |
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| Gene summary for FIBCD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FIBCD1 |
| Gene name | fibrinogen C domain containing 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 9q34.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145106.1, NM_032843.4, | |
| Description | fibrinogen C domain-containing protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613357 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130720 | ||
| HPRD : 16895 | ||
| Vega : OTTHUMG00000020814 | ||
| Protein | UniProt: Q8N539 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FIBCD1 | |
| BioGPS: 84929 | ||
| Pathway | NCI Pathway Interaction Database: FIBCD1 | |
| KEGG: FIBCD1 | ||
| REACTOME: FIBCD1 | ||
| Pathway Commons: FIBCD1 | ||
| Context | iHOP: FIBCD1 | |
| ligand binding site mutation search in PubMed: FIBCD1 | ||
| UCL Cancer Institute: FIBCD1 | ||
| 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 FIBCD1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D393 | D393G | 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 FIBCD1 |
| 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 | D393 | D393G | -0.94744425 |
| (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 FIBCD1 from PDB |
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| Differential gene expression and gene-gene network for FIBCD1 |
| 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 FIBCD1 |
| 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 FIBCD1 |
| 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 FIBCD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4m7f | A | D393 | CA | CALCIUM(2+) | 4m7f | B | D393 | CA | CALCIUM(2+) | 4m7h | A | D393 | CA | CALCIUM(2+) | 4m7h | B | D393 |
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| Conservation information for LBS of FIBCD1 |
| Multiple alignments for Q8N539 in multiple species |
| LBS | AA sequence | # species | Species | D393 | TTKDRDSDHSE | 2 | Homo sapiens, Mus musculus | D393 | TTKDMDNDHSE | 1 | Xenopus tropicalis | D395 | KDRDSDHSENN | 2 | Homo sapiens, Mus musculus | D395 | KDMDNDHSENN | 1 | Xenopus tropicalis | N399 | SDHSENNCAAF | 2 | Homo sapiens, Mus musculus | N399 | NDHSENNCASF | 1 | Xenopus tropicalis | S397 | RDSDHSENNCA | 2 | Homo sapiens, Mus musculus | S397 | MDNDHSENNCA | 1 | Xenopus tropicalis |
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