Atlas of Genetics and Cytogenetics in Oncology and Haematology


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IFT122 (intraflagellar transport 122)

Identity

Alias_namesWDR10
WD repeat domain 10
intraflagellar transport 122 homolog (Chlamydomonas)
Alias_symbol (synonym)WDR140
WDR10p
SPG
Other aliasCED
CED1
HGNC (Hugo) IFT122
LocusID (NCBI) 55764
Atlas_Id 54372
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 129158879 and ends at 129239350 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DHTKD1 (10p14) / IFT122 (3q21.3)IFT122 (3q21.3) / HMCES (3q21.3)IFT122 (3q21.3) / IFT122 (3q21.3)
LOC100507412 (-) / IFT122 (3q21.3)MICALL1 (22q13.1) / IFT122 (3q21.3)IFT122 3q21.3 C3orf37

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)IFT122   13556
Cards
Entrez_Gene (NCBI)IFT122  55764  intraflagellar transport 122
AliasesCED; CED1; SPG; WDR10; 
WDR10p; WDR140
GeneCards (Weizmann)IFT122
Ensembl hg19 (Hinxton)ENSG00000163913 [Gene_View]  chr3:129158879-129239350 [Contig_View]  IFT122 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163913 [Gene_View]  chr3:129158879-129239350 [Contig_View]  IFT122 [Vega]
ICGC DataPortalENSG00000163913
TCGA cBioPortalIFT122
AceView (NCBI)IFT122
Genatlas (Paris)IFT122
WikiGenes55764
SOURCE (Princeton)IFT122
Genetics Home Reference (NIH)IFT122
Genomic and cartography
GoldenPath hg19 (UCSC)IFT122  -     chr3:129158879-129239350 +  3q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IFT122  -     3q21.3   [Description]    (hg38-Dec_2013)
EnsemblIFT122 - 3q21.3 [CytoView hg19]  IFT122 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIIFT122 [Mapview hg19]  IFT122 [Mapview hg38]
OMIM218330   606045   
Gene and transcription
Genbank (Entrez)AF244930 AF244931 AF302154 AK000773 AK001759
RefSeq transcript (Entrez)NM_001280541 NM_001280545 NM_001280546 NM_018262 NM_052985 NM_052989 NM_052990
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_023392 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)IFT122
Cluster EST : UnigeneHs.655284 [ NCBI ]
CGAP (NCI)Hs.655284
Alternative Splicing GalleryENSG00000163913
Gene ExpressionIFT122 [ NCBI-GEO ]   IFT122 [ EBI - ARRAY_EXPRESS ]   IFT122 [ SEEK ]   IFT122 [ MEM ]
Gene Expression Viewer (FireBrowse)IFT122 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55764
GTEX Portal (Tissue expression)IFT122
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBG6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HBG6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HBG6
Splice isoforms : SwissVarQ9HBG6
PhosPhoSitePlusQ9HBG6
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)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)IFT122
DMDM Disease mutations55764
Blocks (Seattle)IFT122
SuperfamilyQ9HBG6
Human Protein AtlasENSG00000163913
Peptide AtlasQ9HBG6
HPRD06922
IPIIPI00066817   IPI00296605   IPI00165352   IPI01018068   IPI00908370   IPI00943167   IPI00307430   IPI01010681   IPI00965188   IPI00964473   IPI00963928   IPI00967563   IPI00967782   IPI00965422   IPI00967194   IPI00968072   IPI00965699   IPI00964770   IPI00965930   IPI00965471   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBG6
IntAct (EBI)Q9HBG6
FunCoupENSG00000163913
BioGRIDIFT122
STRING (EMBL)IFT122
ZODIACIFT122
Ontologies - Pathways
QuickGOQ9HBG6
Ontology : AmiGOneural tube closure  protein binding  cytoplasm  plasma membrane  cilium  signal transduction downstream of smoothened  embryonic body morphogenesis  membrane  negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning  intraciliary transport particle A  photoreceptor connecting cilium  embryonic heart tube development  embryonic forelimb morphogenesis  intraciliary anterograde transport  intraciliary retrograde transport  intraciliary retrograde transport  intraciliary transport involved in cilium morphogenesis  ciliary basal body  cilium assembly  embryonic digit morphogenesis  negative regulation of smoothened signaling pathway  camera-type eye morphogenesis  negative regulation of epithelial cell proliferation  limb development  cilium morphogenesis  ciliary receptor clustering involved in smoothened signaling pathway  smoothened signaling pathway involved in dorsal/ventral neural tube patterning  embryonic heart tube left/right pattern formation  protein localization to cilium  primary cilium  primary cilium  establishment of protein localization to organelle  ciliary tip  ciliary base  
Ontology : EGO-EBIneural tube closure  protein binding  cytoplasm  plasma membrane  cilium  signal transduction downstream of smoothened  embryonic body morphogenesis  membrane  negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning  intraciliary transport particle A  photoreceptor connecting cilium  embryonic heart tube development  embryonic forelimb morphogenesis  intraciliary anterograde transport  intraciliary retrograde transport  intraciliary retrograde transport  intraciliary transport involved in cilium morphogenesis  ciliary basal body  cilium assembly  embryonic digit morphogenesis  negative regulation of smoothened signaling pathway  camera-type eye morphogenesis  negative regulation of epithelial cell proliferation  limb development  cilium morphogenesis  ciliary receptor clustering involved in smoothened signaling pathway  smoothened signaling pathway involved in dorsal/ventral neural tube patterning  embryonic heart tube left/right pattern formation  protein localization to cilium  primary cilium  primary cilium  establishment of protein localization to organelle  ciliary tip  ciliary base  
NDEx NetworkIFT122
Atlas of Cancer Signalling NetworkIFT122
Wikipedia pathwaysIFT122
Orthology - Evolution
OrthoDB55764
GeneTree (enSembl)ENSG00000163913
Phylogenetic Trees/Animal Genes : TreeFamIFT122
HOVERGENQ9HBG6
HOGENOMQ9HBG6
Homologs : HomoloGeneIFT122
Homology/Alignments : Family Browser (UCSC)IFT122
Gene fusions - Rearrangements
Fusion : MitelmanIFT122/HMCES [3q21.3/3q21.3]  
Fusion : MitelmanMICALL1/IFT122 [22q13.1/3q21.3]  [t(3;22)(q21;q13)]  
Fusion: TCGAIFT122 3q21.3 C3orf37 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIFT122 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IFT122
dbVarIFT122
ClinVarIFT122
1000_GenomesIFT122 
Exome Variant ServerIFT122
ExAC (Exome Aggregation Consortium)IFT122 (select the gene name)
Genetic variants : HAPMAP55764
Genomic Variants (DGV)IFT122 [DGVbeta]
DECIPHER (Syndromes)3:129158879-129239350  ENSG00000163913
CONAN: Copy Number AnalysisIFT122 
Mutations
ICGC Data PortalIFT122 
TCGA Data PortalIFT122 
Broad Tumor PortalIFT122
OASIS PortalIFT122 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIFT122  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIFT122
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch IFT122
DgiDB (Drug Gene Interaction Database)IFT122
DoCM (Curated mutations)IFT122 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IFT122 (select a term)
intoGenIFT122
Cancer3DIFT122(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM218330    606045   
Orphanet1682   
MedgenIFT122
Genetic Testing Registry IFT122
NextProtQ9HBG6 [Medical]
TSGene55764
GENETestsIFT122
Huge Navigator IFT122 [HugePedia]
snp3D : Map Gene to Disease55764
BioCentury BCIQIFT122
ClinGenIFT122
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55764
Chemical/Pharm GKB GenePA37798
Clinical trialIFT122
Miscellaneous
canSAR (ICR)IFT122 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIFT122
EVEXIFT122
GoPubMedIFT122
iHOPIFT122
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 Mar 14 13:10:19 CET 2017

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