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mutLBSgeneDB |
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| Gene summary for FSCN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FSCN1 |
| Gene name | fascin actin-bundling protein 1 | |
| Synonyms | FAN1|HSN|SNL|p55 | |
| Cytomap | UCSC genome browser: 7p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003088.3, | |
| Description | 55 kDa actin-bundling proteinfascinfascin homolog 1, actin-bundling proteinsinged-like (fascin homolog, sea urchin) | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602689 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000075618 | ||
| HPRD : 04068 | ||
| Vega : OTTHUMG00000090599 | ||
| Protein | UniProt: Q16658 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FSCN1 | |
| BioGPS: 6624 | ||
| Pathway | NCI Pathway Interaction Database: FSCN1 | |
| KEGG: FSCN1 | ||
| REACTOME: FSCN1 | ||
| Pathway Commons: FSCN1 | ||
| Context | iHOP: FSCN1 | |
| ligand binding site mutation search in PubMed: FSCN1 | ||
| UCL Cancer Institute: FSCN1 | ||
| 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:0030036 | actin cytoskeleton organization | 9571235 | GO:0048870 | cell motility | 9571235 | GO:0051017 | actin filament bundle assembly | 20393565 |
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| Ligand binding site mutations for FSCN1 |
| 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 | R383 | R383C | COAD | 1 | F452 | F451L | LUAD | 1 | F181 | A180V | SKCM | 1 | G352 | K353N | SKCM | 1 | K304 | T302I | SKCM | 1 | V33 | A35V | STAD | 1 | D342 | R341H | STAD | 1 | R118 | R118H | STAD | 1 | R343,I345 | R344H | 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 FSCN1 |
| 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 | R383 | R383C | -1.3177033 | G352 | K353N | -1.2449042 | R118 | R118H | -1.1720131 | R343 | R344H | -1.1714155 | I345 | R344H | -1.1714155 | D342 | R341H | -0.99699226 | K304 | T302I | -0.90455963 | F452 | F451L | -0.76853555 | F181 | A180V | -0.73869835 | V33 | A35V | -0.47409559 |
| (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 FSCN1 from PDB |
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| Differential gene expression and gene-gene network for FSCN1 |
| 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 FSCN1 |
| 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 FSCN1 |
| 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 FSCN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GOL | GLYCEROL | 3p53 | A | D342 F452 | GOL | GLYCEROL | 3p53 | B | D342 R343 I345 F452 | 12P | DODECAETHYLENE GLYCOL | 3p53 | A | F181 | GOL | GLYCEROL | 3p53 | A | K304 G352 | GOL | GLYCEROL | 3p53 | A | R383 | GOL | GLYCEROL | 3p53 | B | R383 | GOL | GLYCEROL | 3p53 | B | V33 | GOL | GLYCEROL | 3p53 | A | V33 R118 |
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| Conservation information for LBS of FSCN1 |
| Multiple alignments for Q16658 in multiple species |
| LBS | AA sequence | # species | Species | A349 | RITLRASNGKF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C19 | FGLISCGNKYL | 2 | Mus musculus, Rattus norvegicus | C19 | FGLINCGNKYL | 1 | Homo sapiens | D117 | FGGTEDRLSCF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D337 | ASCYFDIEWRD | 1 | Homo sapiens | D337 | ASCYFDIEWCD | 1 | Mus musculus | D337 | ASCYFDIEWCE | 1 | Rattus norvegicus | D342 | DIEWRDRRITL | 1 | Homo sapiens | D342 | DIEWCDRRITL | 1 | Mus musculus | D342 | DIEWCERRITL | 1 | Rattus norvegicus | D98 | VVAHDDGRWSL | 2 | Mus musculus, Rattus norvegicus | D98 | IVAHDDGRWSL | 1 | Homo sapiens | F181 | LITLAFQDQRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F418 | VFQLEFNDGAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F452 | TPVDFFLEFCD | 2 | Mus musculus, Rattus norvegicus | F452 | TPVDFFFEFCD | 1 | Homo sapiens | F453 | PVDFFLEFCDY | 2 | Mus musculus, Rattus norvegicus | F453 | PVDFFFEFCDY | 1 | Homo sapiens | G352 | LRASNGKFVTA | 2 | Mus musculus, Rattus norvegicus | G352 | LRASNGKFVTS | 1 | Homo sapiens | G421 | LEFNDGAYNIK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I17 | IQFGLISCGNK | 2 | Mus musculus, Rattus norvegicus | I17 | IQFGLINCGNK | 1 | Homo sapiens | I345 | WRDRRITLRAS | 1 | Homo sapiens | I345 | WCDRRITLRAS | 1 | Mus musculus | I345 | WCERRITLRAS | 1 | Rattus norvegicus | I381 | FLMKLINRPII | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K131 | VSPAEKWSVHI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K304 | DRDTRKCAFRT | 2 | Mus musculus, Rattus norvegicus | K304 | DRDTKKCAFRT | 1 | Homo sapiens | K32 | EAFGFKVNASA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L119 | GTEDRLSCFAQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L380 | LFLMKLINRPI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L416 | YDVFQLEFNDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M378 | SELFLMKLINR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N18 | QFGLISCGNKY | 2 | Mus musculus, Rattus norvegicus | N18 | QFGLINCGNKY | 1 | Homo sapiens | N382 | LMKLINRPIIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P128 | AQSVSPAEKWS | 2 | Mus musculus, Rattus norvegicus | P128 | AQTVSPAEKWS | 1 | Homo sapiens | P384 | KLINRPIIVFR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q184 | LAFQDQRYSVQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R100 | AHDDGRWSLQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R118 | GGTEDRLSCFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R185 | AFQDQRYSVQT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R343 | IEWRDRRITLR | 1 | Homo sapiens | R343 | IEWCDRRITLR | 1 | Mus musculus | R343 | IEWCERRITLR | 1 | Rattus norvegicus | R348 | RRITLRASNGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R383 | MKLINRPIIVF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S133 | PAEKWSVHIAM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S350 | ITLRASNGKFV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V33 | AFGFKVNASAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V78 | DKDGNVTCERE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y186 | FQDQRYSVQTS | 2 | Mus musculus, Rattus norvegicus | Y186 | FQDQRYSVQTA | 1 | Homo sapiens | Y423 | FNDGAYNIKDS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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