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CRELD1 (cysteine rich with EGF like domains 1)

Identity

Alias_namesAVSD2
atrioventricular septal defect 2
cysteine-rich with EGF-like domains 1
cysteine rich with EGF-like domains 1
Other aliasCIRRIN
HGNC (Hugo) CRELD1
LocusID (NCBI) 78987
Atlas_Id 62084
Location 3p25.3  [Link to chromosome band 3p25]
Location_base_pair Starts at 9933841 and ends at 9945413 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IL17RC (3p25.3) / CRELD1 (3p25.3)

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)CRELD1   14630
Cards
Entrez_Gene (NCBI)CRELD1  78987  cysteine rich with EGF like domains 1
AliasesAVSD2; CIRRIN
GeneCards (Weizmann)CRELD1
Ensembl hg19 (Hinxton)ENSG00000163703 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163703 [Gene_View]  chr3:9933841-9945413 [Contig_View]  CRELD1 [Vega]
ICGC DataPortalENSG00000163703
TCGA cBioPortalCRELD1
AceView (NCBI)CRELD1
Genatlas (Paris)CRELD1
WikiGenes78987
SOURCE (Princeton)CRELD1
Genetics Home Reference (NIH)CRELD1
Genomic and cartography
GoldenPath hg38 (UCSC)CRELD1  -     chr3:9933841-9945413 +  3p25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRELD1  -     3p25.3   [Description]    (hg19-Feb_2009)
EnsemblCRELD1 - 3p25.3 [CytoView hg19]  CRELD1 - 3p25.3 [CytoView hg38]
Mapping of homologs : NCBICRELD1 [Mapview hg19]  CRELD1 [Mapview hg38]
OMIM606217   607170   
Gene and transcription
Genbank (Entrez)AF452623 AK314113 AL050275 AM393345 AM393812
RefSeq transcript (Entrez)NM_001031717 NM_001077415 NM_015513
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRELD1
Cluster EST : UnigeneHs.9383 [ NCBI ]
CGAP (NCI)Hs.9383
Alternative Splicing GalleryENSG00000163703
Gene ExpressionCRELD1 [ NCBI-GEO ]   CRELD1 [ EBI - ARRAY_EXPRESS ]   CRELD1 [ SEEK ]   CRELD1 [ MEM ]
Gene Expression Viewer (FireBrowse)CRELD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)78987
GTEX Portal (Tissue expression)CRELD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96HD1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96HD1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96HD1
Splice isoforms : SwissVarQ96HD1
PhosPhoSitePlusQ96HD1
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)DUF3456    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Furin_repeat    Growth_fac_rcpt_    Laminin_EGF   
Domain families : Pfam (Sanger)DUF3456 (PF11938)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam11938    pfam07645   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  FU (SM00261)  
Conserved Domain (NCBI)CRELD1
DMDM Disease mutations78987
Blocks (Seattle)CRELD1
SuperfamilyQ96HD1
Human Protein AtlasENSG00000163703
Peptide AtlasQ96HD1
HPRD06206
IPIIPI00168896   IPI00101608   IPI00925644   IPI00925420   
Protein Interaction databases
DIP (DOE-UCLA)Q96HD1
IntAct (EBI)Q96HD1
FunCoupENSG00000163703
BioGRIDCRELD1
STRING (EMBL)CRELD1
ZODIACCRELD1
Ontologies - Pathways
QuickGOQ96HD1
Ontology : AmiGOendocardial cushion development  cardiac septum development  calcium ion binding  integral component of membrane  
Ontology : EGO-EBIendocardial cushion development  cardiac septum development  calcium ion binding  integral component of membrane  
NDEx NetworkCRELD1
Atlas of Cancer Signalling NetworkCRELD1
Wikipedia pathwaysCRELD1
Orthology - Evolution
OrthoDB78987
GeneTree (enSembl)ENSG00000163703
Phylogenetic Trees/Animal Genes : TreeFamCRELD1
HOVERGENQ96HD1
HOGENOMQ96HD1
Homologs : HomoloGeneCRELD1
Homology/Alignments : Family Browser (UCSC)CRELD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRELD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRELD1
dbVarCRELD1
ClinVarCRELD1
1000_GenomesCRELD1 
Exome Variant ServerCRELD1
ExAC (Exome Aggregation Consortium)CRELD1 (select the gene name)
Genetic variants : HAPMAP78987
Genomic Variants (DGV)CRELD1 [DGVbeta]
DECIPHERCRELD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRELD1 
Mutations
ICGC Data PortalCRELD1 
TCGA Data PortalCRELD1 
Broad Tumor PortalCRELD1
OASIS PortalCRELD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRELD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRELD1
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
BioMutasearch CRELD1
DgiDB (Drug Gene Interaction Database)CRELD1
DoCM (Curated mutations)CRELD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRELD1 (select a term)
intoGenCRELD1
Cancer3DCRELD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606217    607170   
Orphanet8597    14085    14084    14083   
MedgenCRELD1
Genetic Testing Registry CRELD1
NextProtQ96HD1 [Medical]
TSGene78987
GENETestsCRELD1
Target ValidationCRELD1
Huge Navigator CRELD1 [HugePedia]
snp3D : Map Gene to Disease78987
BioCentury BCIQCRELD1
ClinGenCRELD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD78987
Chemical/Pharm GKB GenePA26870
Clinical trialCRELD1
Miscellaneous
canSAR (ICR)CRELD1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRELD1
EVEXCRELD1
GoPubMedCRELD1
iHOPCRELD1
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 13:05:22 CEST 2017

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