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IFT172 (intraflagellar transport 172)

Identity

Alias_namesintraflagellar transport 172 homolog (Chlamydomonas)
Alias_symbol (synonym)SLB
wim
osm-1
NPHP17
BBS20
Other aliasRP71
SRTD10
HGNC (Hugo) IFT172
LocusID (NCBI) 26160
Atlas_Id 55994
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27667240 and ends at 27712678 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
IFT172 (2p23.3) / RMND5A (2p11.2)

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)IFT172   30391
Cards
Entrez_Gene (NCBI)IFT172  26160  intraflagellar transport 172
AliasesBBS20; NPHP17; RP71; SLB; 
SRTD10; osm-1; wim
GeneCards (Weizmann)IFT172
Ensembl hg19 (Hinxton)ENSG00000138002 [Gene_View]  chr2:27667240-27712678 [Contig_View]  IFT172 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138002 [Gene_View]  chr2:27667240-27712678 [Contig_View]  IFT172 [Vega]
ICGC DataPortalENSG00000138002
TCGA cBioPortalIFT172
AceView (NCBI)IFT172
Genatlas (Paris)IFT172
WikiGenes26160
SOURCE (Princeton)IFT172
Genetics Home Reference (NIH)IFT172
Genomic and cartography
GoldenPath hg19 (UCSC)IFT172  -     chr2:27667240-27712678 -  2p23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IFT172  -     2p23.3   [Description]    (hg38-Dec_2013)
EnsemblIFT172 - 2p23.3 [CytoView hg19]  IFT172 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIIFT172 [Mapview hg19]  IFT172 [Mapview hg38]
OMIM607386   615630   616394   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_015662
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IFT172
Cluster EST : UnigeneHs.127401 [ NCBI ]
CGAP (NCI)Hs.127401
Alternative Splicing GalleryENSG00000138002
Gene ExpressionIFT172 [ NCBI-GEO ]   IFT172 [ EBI - ARRAY_EXPRESS ]   IFT172 [ SEEK ]   IFT172 [ MEM ]
Gene Expression Viewer (FireBrowse)IFT172 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26160
GTEX Portal (Tissue expression)IFT172
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UG01   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UG01  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UG01
Splice isoforms : SwissVarQ9UG01
PhosPhoSitePlusQ9UG01
Domains : Interpro (EBI)ARM-type_fold    TPR-like_helical_dom    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)IFT172
DMDM Disease mutations26160
Blocks (Seattle)IFT172
SuperfamilyQ9UG01
Human Protein AtlasENSG00000138002
Peptide AtlasQ9UG01
HPRD09576
IPIIPI00410096   IPI00889747   IPI00902932   IPI00910906   IPI00893338   IPI01018643   IPI00893127   IPI00894422   IPI00894336   
Protein Interaction databases
DIP (DOE-UCLA)Q9UG01
IntAct (EBI)Q9UG01
FunCoupENSG00000138002
BioGRIDIFT172
STRING (EMBL)IFT172
ZODIACIFT172
Ontologies - Pathways
QuickGOQ9UG01
Ontology : AmiGOneural tube closure  heart looping  cilium  axoneme  Notch signaling pathway  smoothened signaling pathway  brain development  epidermis development  dorsal/ventral pattern formation  protein processing  spinal cord motor neuron differentiation  intraciliary transport particle B  intraciliary transport particle B  cytoplasmic microtubule organization  ciliary basal body  cilium assembly  cilium assembly  positive regulation of smoothened signaling pathway  negative regulation of epithelial cell proliferation  palate development  limb development  bone development  hindgut development  left/right axis specification  primary cilium  sperm midpiece  sperm principal piece  ciliary tip  sperm cytoplasmic droplet  extracellular vesicle  
Ontology : EGO-EBIneural tube closure  heart looping  cilium  axoneme  Notch signaling pathway  smoothened signaling pathway  brain development  epidermis development  dorsal/ventral pattern formation  protein processing  spinal cord motor neuron differentiation  intraciliary transport particle B  intraciliary transport particle B  cytoplasmic microtubule organization  ciliary basal body  cilium assembly  cilium assembly  positive regulation of smoothened signaling pathway  negative regulation of epithelial cell proliferation  palate development  limb development  bone development  hindgut development  left/right axis specification  primary cilium  sperm midpiece  sperm principal piece  ciliary tip  sperm cytoplasmic droplet  extracellular vesicle  
NDEx NetworkIFT172
Atlas of Cancer Signalling NetworkIFT172
Wikipedia pathwaysIFT172
Orthology - Evolution
OrthoDB26160
GeneTree (enSembl)ENSG00000138002
Phylogenetic Trees/Animal Genes : TreeFamIFT172
HOVERGENQ9UG01
HOGENOMQ9UG01
Homologs : HomoloGeneIFT172
Homology/Alignments : Family Browser (UCSC)IFT172
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIFT172 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IFT172
dbVarIFT172
ClinVarIFT172
1000_GenomesIFT172 
Exome Variant ServerIFT172
ExAC (Exome Aggregation Consortium)IFT172 (select the gene name)
Genetic variants : HAPMAP26160
Genomic Variants (DGV)IFT172 [DGVbeta]
DECIPHER (Syndromes)2:27667240-27712678  ENSG00000138002
CONAN: Copy Number AnalysisIFT172 
Mutations
ICGC Data PortalIFT172 
TCGA Data PortalIFT172 
Broad Tumor PortalIFT172
OASIS PortalIFT172 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIFT172  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIFT172
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IFT172
DgiDB (Drug Gene Interaction Database)IFT172
DoCM (Curated mutations)IFT172 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IFT172 (select a term)
intoGenIFT172
Cancer3DIFT172(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607386    615630    616394   
Orphanet283    659    17012    3244   
MedgenIFT172
Genetic Testing Registry IFT172
NextProtQ9UG01 [Medical]
TSGene26160
GENETestsIFT172
Huge Navigator IFT172 [HugePedia]
snp3D : Map Gene to Disease26160
BioCentury BCIQIFT172
ClinGenIFT172
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26160
Chemical/Pharm GKB GenePA142671666
Clinical trialIFT172
Miscellaneous
canSAR (ICR)IFT172 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIFT172
EVEXIFT172
GoPubMedIFT172
iHOPIFT172
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:04:48 CEST 2017

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