Atlas of Genetics and Cytogenetics in Oncology and Haematology


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IFT57 (intraflagellar transport 57)

Identity

Alias_namesESRRBL1
estrogen-related receptor beta like 1
intraflagellar transport 57 homolog (Chlamydomonas)
Alias_symbol (synonym)FLJ10147
HIPPI
MHS4R2
Other alias
HGNC (Hugo) IFT57
LocusID (NCBI) 55081
Atlas_Id 56088
Location 3q13.12  [Link to chromosome band 3q13]
Location_base_pair Starts at 108160812 and ends at 108222570 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARMC8 (3q22.3) / IFT57 (3q13.12)IFT57 (3q13.12) / CD200R1L (3q13.2)IFT57 (3q13.12) / ESRRB (14q24.3)
IFT57 (3q13.12) / IFT57 (3q13.12)

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)IFT57   17367
Cards
Entrez_Gene (NCBI)IFT57  55081  intraflagellar transport 57
AliasesESRRBL1; HIPPI; MHS4R2
GeneCards (Weizmann)IFT57
Ensembl hg19 (Hinxton)ENSG00000114446 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114446 [Gene_View]  chr3:108160812-108222570 [Contig_View]  IFT57 [Vega]
ICGC DataPortalENSG00000114446
TCGA cBioPortalIFT57
AceView (NCBI)IFT57
Genatlas (Paris)IFT57
WikiGenes55081
SOURCE (Princeton)IFT57
Genetics Home Reference (NIH)IFT57
Genomic and cartography
GoldenPath hg38 (UCSC)IFT57  -     chr3:108160812-108222570 -  3q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IFT57  -     3q13.12   [Description]    (hg19-Feb_2009)
EnsemblIFT57 - 3q13.12 [CytoView hg19]  IFT57 - 3q13.12 [CytoView hg38]
Mapping of homologs : NCBIIFT57 [Mapview hg19]  IFT57 [Mapview hg38]
OMIM606621   
Gene and transcription
Genbank (Entrez)AB014762 AF139576 AF245220 AK001009 AK298854
RefSeq transcript (Entrez)NM_018010
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IFT57
Cluster EST : UnigeneHs.412196 [ NCBI ]
CGAP (NCI)Hs.412196
Alternative Splicing GalleryENSG00000114446
Gene ExpressionIFT57 [ NCBI-GEO ]   IFT57 [ EBI - ARRAY_EXPRESS ]   IFT57 [ SEEK ]   IFT57 [ MEM ]
Gene Expression Viewer (FireBrowse)IFT57 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55081
GTEX Portal (Tissue expression)IFT57
Human Protein AtlasENSG00000114446-IFT57 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NWB7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NWB7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NWB7
Splice isoforms : SwissVarQ9NWB7
PhosPhoSitePlusQ9NWB7
Domains : Interpro (EBI)Intra-flagellar_transport_57   
Domain families : Pfam (Sanger)IFT57 (PF10498)   
Domain families : Pfam (NCBI)pfam10498   
Conserved Domain (NCBI)IFT57
DMDM Disease mutations55081
Blocks (Seattle)IFT57
SuperfamilyQ9NWB7
Human Protein Atlas [tissue]ENSG00000114446-IFT57 [tissue]
Peptide AtlasQ9NWB7
HPRD09430
IPIIPI00017537   IPI00910187   IPI00946943   
Protein Interaction databases
DIP (DOE-UCLA)Q9NWB7
IntAct (EBI)Q9NWB7
FunCoupENSG00000114446
BioGRIDIFT57
STRING (EMBL)IFT57
ZODIACIFT57
Ontologies - Pathways
QuickGOQ9NWB7
Ontology : AmiGOneural tube closure  heart looping  DNA binding  protein binding  Golgi apparatus  centrosome  cilium  cilium  axoneme  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  smoothened signaling pathway  intraciliary transport particle B  intraciliary transport particle B  photoreceptor connecting cilium  intraciliary transport involved in cilium assembly  ciliary basal body  intraciliary transport  regulation of apoptotic process  dendrite terminus  motile cilium assembly  negative regulation of epithelial cell proliferation  cilium assembly  left/right pattern formation  ciliary tip  non-motile cilium assembly  
Ontology : EGO-EBIneural tube closure  heart looping  DNA binding  protein binding  Golgi apparatus  centrosome  cilium  cilium  axoneme  transcription, DNA-templated  regulation of transcription, DNA-templated  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  smoothened signaling pathway  intraciliary transport particle B  intraciliary transport particle B  photoreceptor connecting cilium  intraciliary transport involved in cilium assembly  ciliary basal body  intraciliary transport  regulation of apoptotic process  dendrite terminus  motile cilium assembly  negative regulation of epithelial cell proliferation  cilium assembly  left/right pattern formation  ciliary tip  non-motile cilium assembly  
Pathways : KEGGHuntington's disease   
NDEx NetworkIFT57
Atlas of Cancer Signalling NetworkIFT57
Wikipedia pathwaysIFT57
Orthology - Evolution
OrthoDB55081
GeneTree (enSembl)ENSG00000114446
Phylogenetic Trees/Animal Genes : TreeFamIFT57
HOVERGENQ9NWB7
HOGENOMQ9NWB7
Homologs : HomoloGeneIFT57
Homology/Alignments : Family Browser (UCSC)IFT57
Gene fusions - Rearrangements
Tumor Fusion PortalIFT57
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIFT57 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IFT57
dbVarIFT57
ClinVarIFT57
1000_GenomesIFT57 
Exome Variant ServerIFT57
ExAC (Exome Aggregation Consortium)ENSG00000114446
GNOMAD BrowserENSG00000114446
Genetic variants : HAPMAP55081
Genomic Variants (DGV)IFT57 [DGVbeta]
DECIPHERIFT57 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIFT57 
Mutations
ICGC Data PortalIFT57 
TCGA Data PortalIFT57 
Broad Tumor PortalIFT57
OASIS PortalIFT57 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIFT57  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIFT57
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 IFT57
DgiDB (Drug Gene Interaction Database)IFT57
DoCM (Curated mutations)IFT57 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IFT57 (select a term)
intoGenIFT57
Cancer3DIFT57(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606621   
Orphanet
DisGeNETIFT57
MedgenIFT57
Genetic Testing Registry IFT57
NextProtQ9NWB7 [Medical]
TSGene55081
GENETestsIFT57
Target ValidationIFT57
Huge Navigator IFT57 [HugePedia]
snp3D : Map Gene to Disease55081
BioCentury BCIQIFT57
ClinGenIFT57
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55081
Chemical/Pharm GKB GenePA27890
Clinical trialIFT57
Miscellaneous
canSAR (ICR)IFT57 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIFT57
EVEXIFT57
GoPubMedIFT57
iHOPIFT57
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:17:23 CET 2017

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