mutLBSgeneDB |
Gene summary for FCN1 |
Gene summary |
Basic gene Info. | Gene symbol | FCN1 |
Gene name | ficolin (collagen/fibrinogen domain containing) 1 | |
Synonyms | FCNM | |
Cytomap | UCSC genome browser: 9q34 | |
Type of gene | protein-coding | |
RefGenes | NM_002003.3, | |
Description | M-ficolincollagen/fibrinogen domain-containing protein 1ficolin (collagen/fibrinogen domain-containing) 1ficolin-1ficolin-Aficolin-alpha | |
Modification date | 20141207 | |
dbXrefs | MIM : 601252 | |
HGNC : HGNC | ||
Ensembl : ENSG00000085265 | ||
HPRD : 03153 | ||
Vega : OTTHUMG00000020895 | ||
Protein | UniProt: O00602 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FCN1 | |
BioGPS: 2219 | ||
Pathway | NCI Pathway Interaction Database: FCN1 | |
KEGG: FCN1 | ||
REACTOME: FCN1 | ||
Pathway Commons: FCN1 | ||
Context | iHOP: FCN1 | |
ligand binding site mutation search in PubMed: FCN1 | ||
UCL Cancer Institute: FCN1 | ||
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:0007186 | G-protein coupled receptor signaling pathway | 21037097 |
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Ligand binding site mutations for FCN1 |
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 | D282 | A281T | COAD | 1 | S268 | S268L | GBM | 1 | D282 | D282N | SKCM | 1 | F274 | F274L | SKCM | 1 | S268 | S268L | 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. |
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Protein structure related information for FCN1 |
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 | D282 | A281T | -0.84436838 | D282 | D282N | -0.53389214 | S268 | S268L | -0.27082747 | F274 | F274L | -0.096365636 |
(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 FCN1 from PDB |
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Differential gene expression and gene-gene network for FCN1 |
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 FCN1 |
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 FCN1 |
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 FCN1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2d39 | A | S268 | CA | CALCIUM(2+) | 2d39 | C | S268 |
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Conservation information for LBS of FCN1 |
Multiple alignments for O00602 in multiple species |
LBS | AA sequence | # species | Species | A301 | PHESYANGINW | 1 | Homo sapiens | A301 | PHKSYANGVNW | 1 | Mus musculus | A301 | LHKSYANGVNW | 1 | Rattus norvegicus | A301 | PHTSYANGINW | 1 | Bos taurus | C283 | WWYADCHASNL | 1 | Homo sapiens | C283 | WWYSQCHTSNL | 1 | Mus musculus | C283 | WWYSDCHTSNL | 1 | Rattus norvegicus | C283 | WWYHSCHSSNL | 1 | Bos taurus | D262 | STKDQDNDVSS | 1 | Homo sapiens | D262 | STKDQDNDGST | 1 | Mus musculus | D262 | STKDQDNDQGS | 1 | Rattus norvegicus | D262 | STKDRDNDESP | 1 | Bos taurus | D264 | KDQDNDVSSSN | 1 | Homo sapiens | D264 | KDQDNDGSTSS | 1 | Mus musculus | D264 | KDQDNDQGSSN | 1 | Rattus norvegicus | D264 | KDRDNDESPSN | 1 | Bos taurus | D282 | AWWYADCHASN | 1 | Homo sapiens | D282 | AWWYSQCHTSN | 1 | Mus musculus | D282 | AWWYSDCHTSN | 1 | Rattus norvegicus | D282 | AWWYHSCHSSN | 1 | Bos taurus | F274 | NCAEKFQGAWW | 1 | Homo sapiens | F274 | SCAMGYHGAWW | 1 | Mus musculus | F274 | NCAVRYHGAWW | 1 | Rattus norvegicus | F274 | NCAAQFQGAWW | 1 | Bos taurus | H284 | WYADCHASNLN | 1 | Homo sapiens | H284 | WYSQCHTSNLN | 1 | Mus musculus | H284 | WYSDCHTSNLN | 1 | Rattus norvegicus | H284 | WYHSCHSSNLN | 1 | Bos taurus | S266 | QDNDVSSSNCA | 1 | Homo sapiens | S266 | QDNDGSTSSCA | 1 | Mus musculus | S266 | QDNDQGSSNCA | 1 | Rattus norvegicus | S266 | RDNDESPSNCA | 1 | Bos taurus | S268 | NDVSSSNCAEK | 1 | Homo sapiens | S268 | NDGSTSSCAMG | 1 | Mus musculus | S268 | NDQGSSNCAVR | 1 | Rattus norvegicus | S268 | NDESPSNCAAQ | 1 | Bos taurus | Y300 | GPHESYANGIN | 1 | Homo sapiens | Y300 | GPHKSYANGVN | 1 | Mus musculus | Y300 | GLHKSYANGVN | 1 | Rattus norvegicus | Y300 | GPHTSYANGIN | 1 | Bos taurus | Y312 | SAAKGYKYSYK | 1 | Homo sapiens | Y312 | KSWRGYNYSCK | 1 | Mus musculus | Y312 | KSWKGYNYSYK | 1 | Rattus norvegicus | Y312 | KSWGRYNYSYK | 1 | Bos taurus |
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