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CFAP126 (cilia and flagella associated protein 126)

Identity

Alias_namesC1orf192
chromosome 1 open reading frame 192
Alias_symbol (synonym)Flattop
Fltp
Other alias
HGNC (Hugo) CFAP126
LocusID (NCBI) 257177
Atlas_Id 61751
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 161334521 and ends at 161337673 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CFAP126 (1q23.3) / HBG2 (11p15.4)

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)CFAP126   32325
Cards
Entrez_Gene (NCBI)CFAP126  257177  cilia and flagella associated protein 126
AliasesC1orf192; Flattop; Fltp
GeneCards (Weizmann)CFAP126
Ensembl hg19 (Hinxton)ENSG00000188931 [Gene_View]  chr1:161334521-161337673 [Contig_View]  CFAP126 [Vega]
Ensembl hg38 (Hinxton)ENSG00000188931 [Gene_View]  chr1:161334521-161337673 [Contig_View]  CFAP126 [Vega]
ICGC DataPortalENSG00000188931
TCGA cBioPortalCFAP126
AceView (NCBI)CFAP126
Genatlas (Paris)CFAP126
WikiGenes257177
SOURCE (Princeton)CFAP126
Genetics Home Reference (NIH)CFAP126
Genomic and cartography
GoldenPath hg19 (UCSC)CFAP126  -     chr1:161334521-161337673 -  1q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CFAP126  -     1q23.3   [Description]    (hg38-Dec_2013)
EnsemblCFAP126 - 1q23.3 [CytoView hg19]  CFAP126 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBICFAP126 [Mapview hg19]  CFAP126 [Mapview hg38]
OMIM616119   
Gene and transcription
Genbank (Entrez)BU688150 DT215043
RefSeq transcript (Entrez)NM_001013625
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)CFAP126
Cluster EST : UnigeneHs.534593 [ NCBI ]
CGAP (NCI)Hs.534593
Alternative Splicing GalleryENSG00000188931
Gene ExpressionCFAP126 [ NCBI-GEO ]   CFAP126 [ EBI - ARRAY_EXPRESS ]   CFAP126 [ SEEK ]   CFAP126 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP126 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)257177
GTEX Portal (Tissue expression)CFAP126
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VTH2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VTH2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VTH2
Splice isoforms : SwissVarQ5VTH2
PhosPhoSitePlusQ5VTH2
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CFAP126
DMDM Disease mutations257177
Blocks (Seattle)CFAP126
SuperfamilyQ5VTH2
Human Protein AtlasENSG00000188931
Peptide AtlasQ5VTH2
HPRD13257
IPIIPI00604570   
Protein Interaction databases
DIP (DOE-UCLA)Q5VTH2
IntAct (EBI)Q5VTH2
FunCoupENSG00000188931
BioGRIDCFAP126
STRING (EMBL)CFAP126
ZODIACCFAP126
Ontologies - Pathways
QuickGOQ5VTH2
Ontology : AmiGOcytoplasm  apical plasma membrane  ciliary basal body  cilium organization  primary cilium  
Ontology : EGO-EBIcytoplasm  apical plasma membrane  ciliary basal body  cilium organization  primary cilium  
NDEx NetworkCFAP126
Atlas of Cancer Signalling NetworkCFAP126
Wikipedia pathwaysCFAP126
Orthology - Evolution
OrthoDB257177
GeneTree (enSembl)ENSG00000188931
Phylogenetic Trees/Animal Genes : TreeFamCFAP126
HOVERGENQ5VTH2
HOGENOMQ5VTH2
Homologs : HomoloGeneCFAP126
Homology/Alignments : Family Browser (UCSC)CFAP126
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP126 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP126
dbVarCFAP126
ClinVarCFAP126
1000_GenomesCFAP126 
Exome Variant ServerCFAP126
ExAC (Exome Aggregation Consortium)CFAP126 (select the gene name)
Genetic variants : HAPMAP257177
Genomic Variants (DGV)CFAP126 [DGVbeta]
DECIPHER (Syndromes)1:161334521-161337673  ENSG00000188931
CONAN: Copy Number AnalysisCFAP126 
Mutations
ICGC Data PortalCFAP126 
TCGA Data PortalCFAP126 
Broad Tumor PortalCFAP126
OASIS PortalCFAP126 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP126
BioMutasearch CFAP126
DgiDB (Drug Gene Interaction Database)CFAP126
DoCM (Curated mutations)CFAP126 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP126 (select a term)
intoGenCFAP126
Cancer3DCFAP126(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616119   
Orphanet
MedgenCFAP126
Genetic Testing Registry CFAP126
NextProtQ5VTH2 [Medical]
TSGene257177
GENETestsCFAP126
Huge Navigator CFAP126 [HugePedia]
snp3D : Map Gene to Disease257177
BioCentury BCIQCFAP126
ClinGenCFAP126
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD257177
Chemical/Pharm GKB GenePA142672403
Clinical trialCFAP126
Miscellaneous
canSAR (ICR)CFAP126 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP126
EVEXCFAP126
GoPubMedCFAP126
iHOPCFAP126
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:59:14 CET 2017

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