|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for GSN |
 Gene summary |
| Basic gene Info. | Gene symbol | GSN |
| Gene name | gelsolin | |
| Synonyms | ADF|AGEL | |
| Cytomap | UCSC genome browser: 9q33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000177.4, NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1, NM_001127666.1,NM_001127667.1,NM_001258029.1,NM_001258030.1, NM_198252.2, | |
| Description | actin-depolymerizing factorbrevin | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 137350 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000148180 | ||
| HPRD : 00674 | ||
| Vega : OTTHUMG00000020584 | ||
| Protein | UniProt: P06396 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GSN | |
| BioGPS: 2934 | ||
| Pathway | NCI Pathway Interaction Database: GSN | |
| KEGG: GSN | ||
| REACTOME: GSN | ||
| Pathway Commons: GSN | ||
| Context | iHOP: GSN | |
| ligand binding site mutation search in PubMed: GSN | ||
| UCL Cancer Institute: GSN | ||
| 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:0030041 | actin filament polymerization | 3020431 | GO:0051014 | actin filament severing | 3020431 |
| Top |
| Ligand binding site mutations for GSN |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D214 | D214N | COAD | 1 | D77 | L78M | HNSC | 1 | H178 | V180I | KIRC | 1 | S552 | R553H | LUAD | 1 | D286 | E285K | LUAD | 1 | D472 | D472Y | LUSC | 1 | E236 | R237T | LUSC | 1 | D77 | D77N | SKCM | 1 | E236 | R237K | SKCM | 1 | D93 | A94T | STAD | 1 | S304 | S304P | STAD | 1 | T551 | G550D | UCEC | 1 | E502 | A504T | UCEC | 1 | D696 | A694V | 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 GSN |
| 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 | E502 | A504T | 0.082343607 | D214 | D214N | -1.6453882 | E236 | R237K | -1.3635014 | D93 | A94T | -1.2954049 | E236 | R237T | -1.2728345 | D77 | L78M | -1.1854941 | D77 | D77N | -1.1729425 | H178 | V180I | -0.91229794 | D696 | A694V | -0.8662522 | S552 | R553H | -0.76202484 | T551 | G550D | -0.67032208 | S304 | S304P | -0.44402252 | D472 | D472Y | -0.42054769 | D286 | E285K | -0.28835344 |
| (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 GSN from PDB |
| Top |
| Differential gene expression and gene-gene network for GSN |
| 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 GSN |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1622345 | Meretoja syndrome | 1 | Biomarker, GeneticVariation |
| umls:C0948089 | Acute Coronary Syndrome | 1 | Biomarker |
| umls:C0860207 | Drug-Induced Liver Injury | 1 | Biomarker |
| umls:C0025500 | Mesothelioma | 1 | Biomarker |
| umls:C0029456 | Osteoporosis | 1 | Biomarker |
| umls:C0030524 | Paratuberculosis | 1 | Biomarker |
| umls:C0043094 | Weight Gain | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for GSN |
| 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. |
 |
| Gene-centered drug-gene interaction network |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02621 | Latrunculin A | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of GSN go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of GSN |
| Multiple alignments for P06396 in multiple species |
| LBS | AA sequence | # species | Species | A143 | YLNGRAVQHRE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A143 | YLQGKAVQHRE | 1 | Gallus gallus | D136 | FTVQLDDYLNG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D136 | FTVQMDDYLQG | 1 | Gallus gallus | D214 | SFNNGDCFILD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D214 | SFNTGDCFILD | 1 | Gallus gallus | D286 | PAGTEDTAKED | 1 | Homo sapiens | D286 | PQGASDDTKTD | 1 | Gallus gallus | D286 | PEGTEDTAKED | 1 | Mus musculus | D286 | PQGTEDTAKED | 1 | Rattus norvegicus | D472 | QFYGGDSYIIL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | D514 | LTAQLDEELGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D514 | LTVQLDEELGG | 1 | Gallus gallus | D592 | ALNSNDAFVLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D592 | QLNSNDAFVLK | 1 | Gallus gallus | D696 | EDLATDDVMLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D696 | DDLATDDVMIL | 1 | Gallus gallus | D697 | DLATDDVMLLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D697 | DLATDDVMILD | 1 | Gallus gallus | D77 | RVEKFDLVPVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D77 | RIEKFDLVPVP | 1 | Gallus gallus | D93 | DFFTGDAYVIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D93 | DFFTGDSYLVL | 1 | Gallus gallus | E124 | ECSQDESGAAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E124 | ESSQDERGAAA | 1 | Gallus gallus | E236 | GSNKFERLKAT | 2 | Mus musculus, Rattus norvegicus | E236 | NSNRYERLKAT | 1 | Homo sapiens | E236 | NSNRQERLKAT | 1 | Gallus gallus | E329 | GALKSEDCFIL | 1 | Homo sapiens | E329 | AALNTEDCFIL | 1 | Gallus gallus | E329 | GALRSEDCFIL | 1 | Mus musculus | E329 | SALRSEDCFIL | 1 | Rattus norvegicus | E354 | QANTEERKAAL | 1 | Homo sapiens | E354 | SANSDERKAAL | 1 | Gallus gallus | E354 | QANMEERKAAL | 1 | Mus musculus | E354 | QANMDERKAAL | 1 | Rattus norvegicus | E502 | QSTQDEVAASA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E502 | HSTQDEIATSA | 1 | Gallus gallus | E614 | GASEAEKTGAQ | 2 | Homo sapiens, Mus musculus | E614 | GSNSAELSGAQ | 1 | Gallus gallus | E614 | GASDAEKTGAL | 1 | Rattus norvegicus | E719 | DSQEEEKTEAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E719 | DAQEEEKTEAL | 1 | Gallus gallus | G141 | DDYLNGRAVQH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G141 | DDYLQGKAVQH | 1 | Gallus gallus | G171 | KYKKGGVASGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G171 | KYKAGGVASGF | 1 | Gallus gallus | G213 | DSFNNGDCFIL | 2 | Mus musculus, Rattus norvegicus | G213 | ESFNNGDCFIL | 1 | Homo sapiens | G213 | ESFNTGDCFIL | 1 | Gallus gallus | G471 | GQFYGGDSYII | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G519 | DEELGGTPVQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G519 | DEELGGSPVQK | 1 | Gallus gallus | G92 | GDFFTGDAYVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G92 | GDFFTGDSYLV | 1 | Gallus gallus | H178 | ASGFKHVVPNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H178 | ASGFRHVVPNE | 1 | Gallus gallus | N233 | CGSGSNKFERL | 2 | Mus musculus, Rattus norvegicus | N233 | CGSNSNRYERL | 1 | Homo sapiens | N233 | CGSNSNRQERL | 1 | Gallus gallus | N351 | KGKQANTEERK | 1 | Homo sapiens | N351 | KGRSANSDERK | 1 | Gallus gallus | N351 | KGKQANMEERK | 1 | Mus musculus | N351 | KGKQANMDERK | 1 | Rattus norvegicus | N591 | GALNSNDAFVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N591 | SQLNSNDAFVL | 1 | Gallus gallus | P521 | ELGGTPVQSRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P521 | ELGGSPVQKRV | 1 | Gallus gallus | R142 | DYLNGRAVQHR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R142 | DYLQGKAVQHR | 1 | Gallus gallus | S121 | LGNECSQDESG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S121 | LGDESSQDERG | 1 | Gallus gallus | S304 | KLYKVSNGAGT | 1 | Homo sapiens | S304 | KLYKVSNGAGN | 1 | Gallus gallus | S304 | KLYKVSNGAGS | 1 | Mus musculus | S304 | KLYKVSNSGGS | 1 | Rattus norvegicus | S552 | YKGGTSREGGQ | 2 | Homo sapiens, Gallus gallus | S552 | YKGGTSRDGGQ | 2 | Mus musculus, Rattus norvegicus | S673 | RLFACSNRIGR | 2 | Mus musculus, Rattus norvegicus | S673 | RLFACSNKIGR | 1 | Homo sapiens | S673 | RLFACSNKSGR | 1 | Gallus gallus | T520 | EELGGTPVQSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T520 | EELGGSPVQKR | 1 | Gallus gallus | T551 | IYKGGTSRDGG | 2 | Mus musculus, Rattus norvegicus | T551 | IYKGGTSREGG | 1 | Homo sapiens | T551 | VYKGGTSREGG | 1 | Gallus gallus | V172 | YKKGGVASGFK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V172 | YKAGGVASGFR | 1 | Gallus gallus | V25 | ALSLPVRAATA | 1 | Homo sapiens | V25 | TMALKLNCVSS | 1 | Gallus gallus | V25 | ALS-PSHAATT | 1 | Mus musculus | V25 | ALS-PSHAATA | 1 | Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |