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SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1)

Identity

Alias_symbol (synonym)ETL1
DKFZP762K2015
KIAA1122
DKFZp762K2015
Other aliasADERM
HEL1
HGNC (Hugo) SMARCAD1
LocusID (NCBI) 56916
Atlas_Id 43492
Location 4q22.3  [Link to chromosome band 4q22]
Location_base_pair Starts at 95128996 and ends at 95212443 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CNOT1 (16q21) / SMARCAD1 (4q22.3)PDLIM5 (4q22.3) / SMARCAD1 (4q22.3)SMARCAD1 (4q22.3) / SMARCAD1 (4q22.3)

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)SMARCAD1   18398
Cards
Entrez_Gene (NCBI)SMARCAD1  56916  SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
AliasesADERM; ETL1; HEL1
GeneCards (Weizmann)SMARCAD1
Ensembl hg19 (Hinxton)ENSG00000163104 [Gene_View]  chr4:95128996-95212443 [Contig_View]  SMARCAD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163104 [Gene_View]  chr4:95128996-95212443 [Contig_View]  SMARCAD1 [Vega]
ICGC DataPortalENSG00000163104
TCGA cBioPortalSMARCAD1
AceView (NCBI)SMARCAD1
Genatlas (Paris)SMARCAD1
WikiGenes56916
SOURCE (Princeton)SMARCAD1
Genetics Home Reference (NIH)SMARCAD1
Genomic and cartography
GoldenPath hg19 (UCSC)SMARCAD1  -     chr4:95128996-95212443 +  4q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMARCAD1  -     4q22.3   [Description]    (hg38-Dec_2013)
EnsemblSMARCAD1 - 4q22.3 [CytoView hg19]  SMARCAD1 - 4q22.3 [CytoView hg38]
Mapping of homologs : NCBISMARCAD1 [Mapview hg19]  SMARCAD1 [Mapview hg38]
OMIM136000   612761   
Gene and transcription
Genbank (Entrez)AB032948 AK023990 AK025302 AK027490 AK301668
RefSeq transcript (Entrez)NM_001128429 NM_001128430 NM_001254949 NM_020159
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_031945 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)SMARCAD1
Cluster EST : UnigeneHs.410406 [ NCBI ]
CGAP (NCI)Hs.410406
Alternative Splicing GalleryENSG00000163104
Gene ExpressionSMARCAD1 [ NCBI-GEO ]   SMARCAD1 [ EBI - ARRAY_EXPRESS ]   SMARCAD1 [ SEEK ]   SMARCAD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCAD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56916
GTEX Portal (Tissue expression)SMARCAD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4L7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4L7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4L7
Splice isoforms : SwissVarQ9H4L7
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusQ9H4L7
Domaine pattern : Prosite (Expaxy)CUE (PS51140)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)CUE    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SNF2_N   
Domain families : Pfam (Sanger)Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam00271    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)SMARCAD1
DMDM Disease mutations56916
Blocks (Seattle)SMARCAD1
SuperfamilyQ9H4L7
Human Protein AtlasENSG00000163104
Peptide AtlasQ9H4L7
HPRD11586
IPIIPI00220119   IPI00008422   IPI00964035   IPI00964879   IPI00966562   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4L7
IntAct (EBI)Q9H4L7
FunCoupENSG00000163104
BioGRIDSMARCAD1
STRING (EMBL)SMARCAD1
ZODIACSMARCAD1
Ontologies - Pathways
QuickGOQ9H4L7
Ontology : AmiGOregulation of DNA recombination  DNA double-strand break processing  heterochromatin  nucleic acid binding  DNA binding  helicase activity  protein binding  ATP binding  nucleoplasm  chromatin remodeling  nucleotide metabolic process  nuclear matrix  chromatin modification  site of double-strand break  ATP-dependent chromatin remodeling  nuclear replication fork  positive regulation of transcription, DNA-templated  protein homooligomerization  chromosome separation  histone H3 deacetylation  histone H4 deacetylation  
Ontology : EGO-EBIregulation of DNA recombination  DNA double-strand break processing  heterochromatin  nucleic acid binding  DNA binding  helicase activity  protein binding  ATP binding  nucleoplasm  chromatin remodeling  nucleotide metabolic process  nuclear matrix  chromatin modification  site of double-strand break  ATP-dependent chromatin remodeling  nuclear replication fork  positive regulation of transcription, DNA-templated  protein homooligomerization  chromosome separation  histone H3 deacetylation  histone H4 deacetylation  
NDEx NetworkSMARCAD1
Atlas of Cancer Signalling NetworkSMARCAD1
Wikipedia pathwaysSMARCAD1
Orthology - Evolution
OrthoDB56916
GeneTree (enSembl)ENSG00000163104
Phylogenetic Trees/Animal Genes : TreeFamSMARCAD1
HOVERGENQ9H4L7
HOGENOMQ9H4L7
Homologs : HomoloGeneSMARCAD1
Homology/Alignments : Family Browser (UCSC)SMARCAD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCAD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCAD1
dbVarSMARCAD1
ClinVarSMARCAD1
1000_GenomesSMARCAD1 
Exome Variant ServerSMARCAD1
ExAC (Exome Aggregation Consortium)SMARCAD1 (select the gene name)
Genetic variants : HAPMAP56916
Genomic Variants (DGV)SMARCAD1 [DGVbeta]
DECIPHER (Syndromes)4:95128996-95212443  ENSG00000163104
CONAN: Copy Number AnalysisSMARCAD1 
Mutations
ICGC Data PortalSMARCAD1 
TCGA Data PortalSMARCAD1 
Broad Tumor PortalSMARCAD1
OASIS PortalSMARCAD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCAD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMARCAD1
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 SMARCAD1
DgiDB (Drug Gene Interaction Database)SMARCAD1
DoCM (Curated mutations)SMARCAD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCAD1 (select a term)
intoGenSMARCAD1
Cancer3DSMARCAD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM136000    612761   
Orphanet20723   
MedgenSMARCAD1
Genetic Testing Registry SMARCAD1
NextProtQ9H4L7 [Medical]
TSGene56916
GENETestsSMARCAD1
Huge Navigator SMARCAD1 [HugePedia]
snp3D : Map Gene to Disease56916
BioCentury BCIQSMARCAD1
ClinGenSMARCAD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56916
Chemical/Pharm GKB GenePA134954731
Clinical trialSMARCAD1
Miscellaneous
canSAR (ICR)SMARCAD1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCAD1
EVEXSMARCAD1
GoPubMedSMARCAD1
iHOPSMARCAD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:20:06 CEST 2017

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