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CFC1 (cripto, FRL-1, cryptic family 1)

Identity

Alias_namesHTX2
heterotaxy 2 (autosomal dominant)
Alias_symbol (synonym)CRYPTIC
Other aliasCFC1B
DTGA2
HGNC (Hugo) CFC1
LocusID (NCBI) 55997
Atlas_Id 61768
Location 2q21.1  [Link to chromosome band 2q21]
Location_base_pair Starts at 131349738 and ends at 131357148 bp from pter ( according to hg19-Feb_2009)

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)CFC1   18292
Cards
Entrez_Gene (NCBI)CFC1  55997  cripto, FRL-1, cryptic family 1
AliasesCFC1B; CRYPTIC; DTGA2; HTX2
GeneCards (Weizmann)CFC1
Ensembl hg19 (Hinxton)ENSG00000136698 [Gene_View]  chr2:131349738-131357148 [Contig_View]  CFC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136698 [Gene_View]  chr2:131349738-131357148 [Contig_View]  CFC1 [Vega]
ICGC DataPortalENSG00000136698
TCGA cBioPortalCFC1
AceView (NCBI)CFC1
Genatlas (Paris)CFC1
WikiGenes55997
SOURCE (Princeton)CFC1
Genetics Home Reference (NIH)CFC1
Genomic and cartography
GoldenPath hg19 (UCSC)CFC1  -     chr2:131349738-131357148 -  2q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CFC1  -     2q21.1   [Description]    (hg38-Dec_2013)
EnsemblCFC1 - 2q21.1 [CytoView hg19]  CFC1 - 2q21.1 [CytoView hg38]
Mapping of homologs : NCBICFC1 [Mapview hg19]  CFC1 [Mapview hg38]
OMIM217095   605194   605376   613853   
Gene and transcription
Genbank (Entrez)AF312769 AK290094 AK315326 BC069508 BC074825
RefSeq transcript (Entrez)NM_001270420 NM_001270421 NM_032545
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008148 NT_005403 NW_004929304
Consensus coding sequences : CCDS (NCBI)CFC1
Cluster EST : UnigeneHs.567542 [ NCBI ]
CGAP (NCI)Hs.567542
Alternative Splicing GalleryENSG00000136698
Gene ExpressionCFC1 [ NCBI-GEO ]   CFC1 [ EBI - ARRAY_EXPRESS ]   CFC1 [ SEEK ]   CFC1 [ MEM ]
Gene Expression Viewer (FireBrowse)CFC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55997
GTEX Portal (Tissue expression)CFC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0CG37   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0CG37  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0CG37
Splice isoforms : SwissVarP0CG37
PhosPhoSitePlusP0CG37
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_3 (PS50026)   
Domains : Interpro (EBI)Cryptic/Cripto_CFC-dom    EG-like_dom    EGF-like_CS   
Domain families : Pfam (Sanger)CFC (PF09443)   
Domain families : Pfam (NCBI)pfam09443   
Domain families : Smart (EMBL)EGF (SM00181)  
Conserved Domain (NCBI)CFC1
DMDM Disease mutations55997
Blocks (Seattle)CFC1
SuperfamilyP0CG37
Human Protein AtlasENSG00000136698
Peptide AtlasP0CG37
HPRD05548
IPIIPI00969174   IPI00000180   
Protein Interaction databases
DIP (DOE-UCLA)P0CG37
IntAct (EBI)P0CG37
FunCoupENSG00000136698
BioGRIDCFC1
STRING (EMBL)CFC1
ZODIACCFC1
Ontologies - Pathways
QuickGOP0CG37
Ontology : AmiGOmolecular_function  cellular_component  extracellular region  plasma membrane  determination of left/right symmetry  gastrulation  anchored component of membrane  nodal signaling pathway  nodal binding  
Ontology : EGO-EBImolecular_function  cellular_component  extracellular region  plasma membrane  determination of left/right symmetry  gastrulation  anchored component of membrane  nodal signaling pathway  nodal binding  
NDEx NetworkCFC1
Atlas of Cancer Signalling NetworkCFC1
Wikipedia pathwaysCFC1
Orthology - Evolution
OrthoDB55997
GeneTree (enSembl)ENSG00000136698
Phylogenetic Trees/Animal Genes : TreeFamCFC1
HOVERGENP0CG37
HOGENOMP0CG37
Homologs : HomoloGeneCFC1
Homology/Alignments : Family Browser (UCSC)CFC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFC1
dbVarCFC1
ClinVarCFC1
1000_GenomesCFC1 
Exome Variant ServerCFC1
ExAC (Exome Aggregation Consortium)CFC1 (select the gene name)
Genetic variants : HAPMAP55997
Genomic Variants (DGV)CFC1 [DGVbeta]
DECIPHER (Syndromes)2:131349738-131357148  ENSG00000136698
CONAN: Copy Number AnalysisCFC1 
Mutations
ICGC Data PortalCFC1 
TCGA Data PortalCFC1 
Broad Tumor PortalCFC1
OASIS PortalCFC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CFC1
DgiDB (Drug Gene Interaction Database)CFC1
DoCM (Curated mutations)CFC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFC1 (select a term)
intoGenCFC1
Cancer3DCFC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM217095    605194    605376    613853   
Orphanet17142    19476    3463   
MedgenCFC1
Genetic Testing Registry CFC1
NextProtP0CG37 [Medical]
TSGene55997
GENETestsCFC1
Huge Navigator CFC1 [HugePedia]
snp3D : Map Gene to Disease55997
BioCentury BCIQCFC1
ClinGenCFC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55997
Chemical/Pharm GKB GenePA134916180
Clinical trialCFC1
Miscellaneous
canSAR (ICR)CFC1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFC1
EVEXCFC1
GoPubMedCFC1
iHOPCFC1
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 11:59:19 CET 2017

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