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CFAP54 (cilia and flagella associated protein 54)

Identity

Alias_namesC12orf63
C12orf55
chromosome 12 open reading frame 63
chromosome 12 open reading frame 55
cilia and flagella associated 54
Alias_symbol (synonym)FLJ31514
FLJ44112
Other alias
HGNC (Hugo) CFAP54
LocusID (NCBI) 144535
Atlas_Id 61760
Location 12q23.1  [Link to chromosome band 12q23]
Location_base_pair Starts at 96489571 and ends at 96875555 bp from pter ( according to hg38-Dec_2013)

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)CFAP54   26456
Cards
Entrez_Gene (NCBI)CFAP54  144535  cilia and flagella associated protein 54
AliasesC12orf55; C12orf63
GeneCards (Weizmann)CFAP54
Ensembl hg19 (Hinxton)ENSG00000188596 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188596 [Gene_View]  chr12:96489571-96875555 [Contig_View]  CFAP54 [Vega]
ICGC DataPortalENSG00000188596
TCGA cBioPortalCFAP54
AceView (NCBI)CFAP54
Genatlas (Paris)CFAP54
WikiGenes144535
SOURCE (Princeton)CFAP54
Genetics Home Reference (NIH)CFAP54
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP54  -     chr12:96489571-96875555 +  12q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP54  -     12q23.1   [Description]    (hg19-Feb_2009)
EnsemblCFAP54 - 12q23.1 [CytoView hg19]  CFAP54 - 12q23.1 [CytoView hg38]
Mapping of homologs : NCBICFAP54 [Mapview hg19]  CFAP54 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK056076 AK091789 AK126100 AK307646 BC041426
RefSeq transcript (Entrez)NM_001306084 NM_198520
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP54
Cluster EST : UnigeneHs.739050 [ NCBI ]
CGAP (NCI)Hs.739050
Alternative Splicing GalleryENSG00000188596
Gene ExpressionCFAP54 [ NCBI-GEO ]   CFAP54 [ EBI - ARRAY_EXPRESS ]   CFAP54 [ SEEK ]   CFAP54 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP54 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144535
GTEX Portal (Tissue expression)CFAP54
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96N23   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96N23  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96N23
Splice isoforms : SwissVarQ96N23
PhosPhoSitePlusQ96N23
Domains : Interpro (EBI)DUF4486    TPR-like_helical_dom   
Domain families : Pfam (Sanger)DUF4486 (PF14858)   
Domain families : Pfam (NCBI)pfam14858   
Conserved Domain (NCBI)CFAP54
DMDM Disease mutations144535
Blocks (Seattle)CFAP54
SuperfamilyQ96N23
Human Protein AtlasENSG00000188596
Peptide AtlasQ96N23
IPIIPI00288954   IPI01025449   
Protein Interaction databases
DIP (DOE-UCLA)Q96N23
IntAct (EBI)Q96N23
FunCoupENSG00000188596
BioGRIDCFAP54
STRING (EMBL)CFAP54
ZODIACCFAP54
Ontologies - Pathways
QuickGOQ96N23
Ontology : AmiGOcytoplasm  axoneme  spermatogenesis  cell differentiation  cilium assembly  cilium movement involved in cell motility  
Ontology : EGO-EBIcytoplasm  axoneme  spermatogenesis  cell differentiation  cilium assembly  cilium movement involved in cell motility  
NDEx NetworkCFAP54
Atlas of Cancer Signalling NetworkCFAP54
Wikipedia pathwaysCFAP54
Orthology - Evolution
OrthoDB144535
GeneTree (enSembl)ENSG00000188596
Phylogenetic Trees/Animal Genes : TreeFamCFAP54
HOVERGENQ96N23
HOGENOMQ96N23
Homologs : HomoloGeneCFAP54
Homology/Alignments : Family Browser (UCSC)CFAP54
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP54 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP54
dbVarCFAP54
ClinVarCFAP54
1000_GenomesCFAP54 
Exome Variant ServerCFAP54
ExAC (Exome Aggregation Consortium)CFAP54 (select the gene name)
Genetic variants : HAPMAP144535
Genomic Variants (DGV)CFAP54 [DGVbeta]
DECIPHERCFAP54 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP54 
Mutations
ICGC Data PortalCFAP54 
TCGA Data PortalCFAP54 
Broad Tumor PortalCFAP54
OASIS PortalCFAP54 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP54
BioMutasearch CFAP54
DgiDB (Drug Gene Interaction Database)CFAP54
DoCM (Curated mutations)CFAP54 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP54 (select a term)
intoGenCFAP54
Cancer3DCFAP54(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCFAP54
Genetic Testing Registry CFAP54
NextProtQ96N23 [Medical]
TSGene144535
GENETestsCFAP54
Target ValidationCFAP54
Huge Navigator CFAP54 [HugePedia]
snp3D : Map Gene to Disease144535
BioCentury BCIQCFAP54
ClinGenCFAP54
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144535
Chemical/Pharm GKB GenePA143485384
Clinical trialCFAP54
Miscellaneous
canSAR (ICR)CFAP54 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP54
EVEXCFAP54
GoPubMedCFAP54
iHOPCFAP54
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 18 13:04:41 CEST 2017

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