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ISY1 (ISY1 splicing factor homolog)

Identity

Alias_namesISY1 splicing factor homolog (S. cerevisiae)
Alias_symbol (synonym)KIAA1160
fSAP33
Other aliasFSAP33
HGNC (Hugo) ISY1
LocusID (NCBI) 57461
Atlas_Id 55487
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 129127416 and ends at 129161230 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ISY1 (3q21.3) / AXL (19q13.2)ISY1 (3q21.3) / MASP1 (3q27.3)STAG1 (3q22.3) / ISY1 (3q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ISY1   29201
Cards
Entrez_Gene (NCBI)ISY1  57461  ISY1 splicing factor homolog
AliasesFSAP33
GeneCards (Weizmann)ISY1
Ensembl hg19 (Hinxton)ENSG00000240682 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000240682 [Gene_View]  chr3:129127416-129161230 [Contig_View]  ISY1 [Vega]
ICGC DataPortalENSG00000240682
TCGA cBioPortalISY1
AceView (NCBI)ISY1
Genatlas (Paris)ISY1
WikiGenes57461
SOURCE (Princeton)ISY1
Genetics Home Reference (NIH)ISY1
Genomic and cartography
GoldenPath hg38 (UCSC)ISY1  -     chr3:129127416-129161230 -  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ISY1  -     3q21.3   [Description]    (hg19-Feb_2009)
EnsemblISY1 - 3q21.3 [CytoView hg19]  ISY1 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIISY1 [Mapview hg19]  ISY1 [Mapview hg38]
OMIM612764   
Gene and transcription
Genbank (Entrez)AK024035 BC004122 BC004442 BC007409 BC019849
RefSeq transcript (Entrez)NM_001199469 NM_020701
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ISY1
Cluster EST : UnigeneHs.512661 [ NCBI ]
CGAP (NCI)Hs.512661
Alternative Splicing GalleryENSG00000240682
Gene ExpressionISY1 [ NCBI-GEO ]   ISY1 [ EBI - ARRAY_EXPRESS ]   ISY1 [ SEEK ]   ISY1 [ MEM ]
Gene Expression Viewer (FireBrowse)ISY1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57461
GTEX Portal (Tissue expression)ISY1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULR0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULR0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULR0
Splice isoforms : SwissVarQ9ULR0
PhosPhoSitePlusQ9ULR0
Domains : Interpro (EBI)Isy1   
Domain families : Pfam (Sanger)Isy1 (PF06246)   
Domain families : Pfam (NCBI)pfam06246   
Conserved Domain (NCBI)ISY1
DMDM Disease mutations57461
Blocks (Seattle)ISY1
SuperfamilyQ9ULR0
Human Protein AtlasENSG00000240682
Peptide AtlasQ9ULR0
HPRD13834
IPIIPI00063673   IPI00552736   IPI00983883   IPI00788829   IPI00792908   IPI00793565   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULR0
IntAct (EBI)Q9ULR0
FunCoupENSG00000240682
BioGRIDISY1
STRING (EMBL)ISY1
ZODIACISY1
Ontologies - Pathways
QuickGOQ9ULR0
Ontology : AmiGOgeneration of catalytic spliceosome for second transesterification step  first spliceosomal transesterification activity  mRNA 3'-splice site recognition  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  Prp19 complex  RNA binding  protein binding  nucleoplasm  transcription-coupled nucleotide-excision repair  catalytic step 1 spliceosome  catalytic step 2 spliceosome  post-mRNA release spliceosomal complex  post-spliceosomal complex  
Ontology : EGO-EBIgeneration of catalytic spliceosome for second transesterification step  first spliceosomal transesterification activity  mRNA 3'-splice site recognition  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  Prp19 complex  RNA binding  protein binding  nucleoplasm  transcription-coupled nucleotide-excision repair  catalytic step 1 spliceosome  catalytic step 2 spliceosome  post-mRNA release spliceosomal complex  post-spliceosomal complex  
Pathways : KEGGSpliceosome   
NDEx NetworkISY1
Atlas of Cancer Signalling NetworkISY1
Wikipedia pathwaysISY1
Orthology - Evolution
OrthoDB57461
GeneTree (enSembl)ENSG00000240682
Phylogenetic Trees/Animal Genes : TreeFamISY1
HOVERGENQ9ULR0
HOGENOMQ9ULR0
Homologs : HomoloGeneISY1
Homology/Alignments : Family Browser (UCSC)ISY1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerISY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ISY1
dbVarISY1
ClinVarISY1
1000_GenomesISY1 
Exome Variant ServerISY1
ExAC (Exome Aggregation Consortium)ISY1 (select the gene name)
Genetic variants : HAPMAP57461
Genomic Variants (DGV)ISY1 [DGVbeta]
DECIPHERISY1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisISY1 
Mutations
ICGC Data PortalISY1 
TCGA Data PortalISY1 
Broad Tumor PortalISY1
OASIS PortalISY1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICISY1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDISY1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ISY1
DgiDB (Drug Gene Interaction Database)ISY1
DoCM (Curated mutations)ISY1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ISY1 (select a term)
intoGenISY1
Cancer3DISY1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612764   
Orphanet
MedgenISY1
Genetic Testing Registry ISY1
NextProtQ9ULR0 [Medical]
TSGene57461
GENETestsISY1
Target ValidationISY1
Huge Navigator ISY1 [HugePedia]
snp3D : Map Gene to Disease57461
BioCentury BCIQISY1
ClinGenISY1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57461
Chemical/Pharm GKB GenePA162392343
Clinical trialISY1
Miscellaneous
canSAR (ICR)ISY1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineISY1
EVEXISY1
GoPubMedISY1
iHOPISY1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:13:41 CEST 2017

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