Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1)

Identity

Alias (NCBI)BAF60A
CRACD1
CSS11
Rsc6p
HGNC (Hugo) SMARCD1
HGNC Alias symbBAF60A
Rsc6p
CRACD1
LocusID (NCBI) 6602
Atlas_Id 42336
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 50085342 and ends at 50100707 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NR1H2 (19q13.33)::SMARCD1 (12q13.12)SMARCD1 (12q13.12)::ATP2C2 (16q24.1)

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)SMARCD1   11106
Cards
Entrez_Gene (NCBI)SMARCD1    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
AliasesBAF60A; CRACD1; CSS11; Rsc6p
GeneCards (Weizmann)SMARCD1
Ensembl hg19 (Hinxton)ENSG00000066117 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066117 [Gene_View]  ENSG00000066117 [Sequence]  chr12:50085342-50100707 [Contig_View]  SMARCD1 [Vega]
ICGC DataPortalENSG00000066117
TCGA cBioPortalSMARCD1
AceView (NCBI)SMARCD1
Genatlas (Paris)SMARCD1
SOURCE (Princeton)SMARCD1
Genetics Home Reference (NIH)SMARCD1
Genomic and cartography
GoldenPath hg38 (UCSC)SMARCD1  -     chr12:50085342-50100707 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCD1  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathSMARCD1 - 12q13.12 [CytoView hg19]  SMARCD1 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000066117
Genome Data Viewer NCBISMARCD1 [Mapview hg19]  
OMIM601735   618779   
Gene and transcription
Genbank (Entrez)AA610093 AF109733 AK130517 AK292700 AK293932
RefSeq transcript (Entrez)NM_003076 NM_139071
Consensus coding sequences : CCDS (NCBI)SMARCD1
Gene ExpressionSMARCD1 [ NCBI-GEO ]   SMARCD1 [ EBI - ARRAY_EXPRESS ]   SMARCD1 [ SEEK ]   SMARCD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCD1 [ Firebrowse - Broad ]
GenevisibleExpression of SMARCD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6602
GTEX Portal (Tissue expression)SMARCD1
Human Protein AtlasENSG00000066117-SMARCD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96GM5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96GM5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96GM5
PhosPhoSitePlusQ96GM5
Domaine pattern : Prosite (Expaxy)SWIB_MDM2 (PS51925)   
Domains : Interpro (EBI)SMARCD1    SWIB_domain    SWIB_MDM2_dom_sf    SWIB_MDM2_domain   
Domain families : Pfam (Sanger)SWIB (PF02201)   
Domain families : Pfam (NCBI)pfam02201   
Domain families : Smart (EMBL)SWIB (SM00151)  
Conserved Domain (NCBI)SMARCD1
PDB (RSDB)6LTH    6LTJ   
PDB Europe6LTH    6LTJ   
PDB (PDBSum)6LTH    6LTJ   
PDB (IMB)6LTH    6LTJ   
Structural Biology KnowledgeBase6LTH    6LTJ   
SCOP (Structural Classification of Proteins)6LTH    6LTJ   
CATH (Classification of proteins structures)6LTH    6LTJ   
SuperfamilyQ96GM5
AlphaFold pdb e-kbQ96GM5   
Human Protein Atlas [tissue]ENSG00000066117-SMARCD1 [tissue]
HPRD03438
Protein Interaction databases
DIP (DOE-UCLA)Q96GM5
IntAct (EBI)Q96GM5
BioGRIDSMARCD1
STRING (EMBL)SMARCD1
ZODIACSMARCD1
Ontologies - Pathways
QuickGOQ96GM5
Ontology : AmiGOchromatin binding  transcription coregulator activity  transcription coactivator activity  signaling receptor binding  protein binding  nucleus  nucleoplasm  nucleosome disassembly  chromatin remodeling  chromatin remodeling  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  nervous system development  SWI/SNF complex  SWI/SNF complex  intracellular membrane-bounded organelle  epigenetic maintenance of chromatin in transcription-competent conformation  positive regulation of transcription, DNA-templated  molecular adaptor activity  cellular response to fatty acid  npBAF complex  nBAF complex  
Ontology : EGO-EBIchromatin binding  transcription coregulator activity  transcription coactivator activity  signaling receptor binding  protein binding  nucleus  nucleoplasm  nucleosome disassembly  chromatin remodeling  chromatin remodeling  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  nervous system development  SWI/SNF complex  SWI/SNF complex  intracellular membrane-bounded organelle  epigenetic maintenance of chromatin in transcription-competent conformation  positive regulation of transcription, DNA-templated  molecular adaptor activity  cellular response to fatty acid  npBAF complex  nBAF complex  
Pathways : BIOCARTABIOCARTA_VDRPATHWAY    BIOCARTA_HSWI_SNFPATHWAY   
NDEx NetworkSMARCD1
Atlas of Cancer Signalling NetworkSMARCD1
Wikipedia pathwaysSMARCD1
Orthology - Evolution
OrthoDB6602
GeneTree (enSembl)ENSG00000066117
Phylogenetic Trees/Animal Genes : TreeFamSMARCD1
Homologs : HomoloGeneSMARCD1
Homology/Alignments : Family Browser (UCSC)SMARCD1
Gene fusions - Rearrangements
Fusion : QuiverSMARCD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCD1
dbVarSMARCD1
ClinVarSMARCD1
MonarchSMARCD1
1000_GenomesSMARCD1 
Exome Variant ServerSMARCD1
GNOMAD BrowserENSG00000066117
Varsome BrowserSMARCD1
ACMGSMARCD1 variants
VarityQ96GM5
Genomic Variants (DGV)SMARCD1 [DGVbeta]
DECIPHERSMARCD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMARCD1 
Mutations
ICGC Data PortalSMARCD1 
TCGA Data PortalSMARCD1 
Broad Tumor PortalSMARCD1
OASIS PortalSMARCD1 [ Somatic mutations - Copy number]
Cancer Gene: CensusSMARCD1 
Somatic Mutations in Cancer : COSMICSMARCD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMARCD1
Mutations and Diseases : HGMDSMARCD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMARCD1
DgiDB (Drug Gene Interaction Database)SMARCD1
DoCM (Curated mutations)SMARCD1
CIViC (Clinical Interpretations of Variants in Cancer)SMARCD1
Cancer3DSMARCD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601735    618779   
Orphanet321   
DisGeNETSMARCD1
MedgenSMARCD1
Genetic Testing Registry SMARCD1
NextProtQ96GM5 [Medical]
GENETestsSMARCD1
Target ValidationSMARCD1
Huge Navigator SMARCD1 [HugePedia]
ClinGenSMARCD1
Clinical trials, drugs, therapy
MyCancerGenomeSMARCD1
Protein Interactions : CTDSMARCD1
Pharm GKB GenePA35956
PharosQ96GM5
Clinical trialSMARCD1
Miscellaneous
canSAR (ICR)SMARCD1
HarmonizomeSMARCD1
ARCHS4SMARCD1
DataMed IndexSMARCD1
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMARCD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 12:59:42 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.