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

SEM1 (SEM1 26S proteasome complex subunit)

Identity

Alias_namesSHFD1
SHFM1
C7orf76
split hand/foot malformation (ectrodactyly) type 1
chromosome 7 open reading frame 76
SEM1, 26S proteasome complex subunit
Alias_symbol (synonym)DSS1
Shfdg1
ECD
SHSF1
FLJ42280
Other alias
HGNC (Hugo) SEM1
LocusID (NCBI) 7979
Atlas_Id 56678
Location 7q21.3  [Link to chromosome band 7q21]
Location_base_pair Starts at 96688767 and ends at 96709891 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)

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)SEM1   10845
Cards
Entrez_Gene (NCBI)SEM1  7979  SEM1 26S proteasome complex subunit
AliasesC7orf76; DSS1; ECD; SHFD1; 
SHFM1; SHSF1; Shfdg1
GeneCards (Weizmann)SEM1
Ensembl hg19 (Hinxton)ENSG00000127922 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127922 [Gene_View]  ENSG00000127922 [Sequence]  chr7:96688767-96709891 [Contig_View]  SEM1 [Vega]
ICGC DataPortalENSG00000127922
TCGA cBioPortalSEM1
AceView (NCBI)SEM1
Genatlas (Paris)SEM1
WikiGenes7979
SOURCE (Princeton)SEM1
Genetics Home Reference (NIH)SEM1
Genomic and cartography
GoldenPath hg38 (UCSC)SEM1  -     chr7:96688767-96709891 -  7q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEM1  -     7q21.3   [Description]    (hg19-Feb_2009)
GoldenPathSEM1 - 7q21.3 [CytoView hg19]  SEM1 - 7q21.3 [CytoView hg38]
ImmunoBaseENSG00000127922
Mapping of homologs : NCBISEM1 [Mapview hg19]  SEM1 [Mapview hg38]
OMIM601285   
Gene and transcription
Genbank (Entrez)AK094899 AK124274 AK291070 AK309241 AK310300
RefSeq transcript (Entrez)NM_001201450 NM_001201451 NM_001349698 NM_001349700 NM_001349701 NM_001349702 NM_006304 NM_207503
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEM1
Cluster EST : UnigeneHs.734935 [ NCBI ]
CGAP (NCI)Hs.734935
Alternative Splicing GalleryENSG00000127922
Gene ExpressionSEM1 [ NCBI-GEO ]   SEM1 [ EBI - ARRAY_EXPRESS ]   SEM1 [ SEEK ]   SEM1 [ MEM ]
Gene Expression Viewer (FireBrowse)SEM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7979
GTEX Portal (Tissue expression)SEM1
Human Protein AtlasENSG00000127922-SEM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60896   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60896  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60896
Splice isoforms : SwissVarP60896
PhosPhoSitePlusP60896
Domains : Interpro (EBI)DSS1_SEM1   
Domain families : Pfam (Sanger)DSS1_SEM1 (PF05160)   
Domain families : Pfam (NCBI)pfam05160   
Domain families : Smart (EMBL)DSS1_SEM1 (SM01385)  
Conserved Domain (NCBI)SEM1
DMDM Disease mutations7979
Blocks (Seattle)SEM1
PDB (RSDB)1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
PDB Europe1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
PDB (PDBSum)1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
PDB (IMB)1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
Structural Biology KnowledgeBase1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
SCOP (Structural Classification of Proteins)1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
CATH (Classification of proteins structures)1IYJ    1MIU    1MJE    3T5X    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5VGZ    5VHF    5VHH    5VHI    5VHS   
SuperfamilyP60896
Human Protein Atlas [tissue]ENSG00000127922-SEM1 [tissue]
Peptide AtlasP60896
IPIIPI00013266   IPI00927910   IPI00927699   IPI00927938   
Protein Interaction databases
DIP (DOE-UCLA)P60896
IntAct (EBI)P60896
FunCoupENSG00000127922
BioGRIDSEM1
STRING (EMBL)SEM1
ZODIACSEM1
Ontologies - Pathways
QuickGOP60896
Ontology : AmiGOdouble-strand break repair via homologous recombination  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  
NDEx NetworkSEM1
Atlas of Cancer Signalling NetworkSEM1
Wikipedia pathwaysSEM1
Orthology - Evolution
OrthoDB7979
GeneTree (enSembl)ENSG00000127922
Phylogenetic Trees/Animal Genes : TreeFamSEM1
HOGENOMP60896
Homologs : HomoloGeneSEM1
Homology/Alignments : Family Browser (UCSC)SEM1
Gene fusions - Rearrangements
Fusion : QuiverSEM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEM1
dbVarSEM1
ClinVarSEM1
1000_GenomesSEM1 
Exome Variant ServerSEM1
ExAC (Exome Aggregation Consortium)ENSG00000127922
GNOMAD BrowserENSG00000127922
Varsome BrowserSEM1
Genetic variants : HAPMAP7979
Genomic Variants (DGV)SEM1 [DGVbeta]
DECIPHERSEM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEM1 
Mutations
ICGC Data PortalSEM1 
TCGA Data PortalSEM1 
Broad Tumor PortalSEM1
OASIS PortalSEM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSEM1
Mutations and Diseases : HGMDSEM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SEM1
DgiDB (Drug Gene Interaction Database)SEM1
DoCM (Curated mutations)SEM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEM1 (select a term)
intoGenSEM1
Cancer3DSEM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601285   
Orphanet
DisGeNETSEM1
MedgenSEM1
Genetic Testing Registry SEM1
NextProtP60896 [Medical]
TSGene7979
GENETestsSEM1
Target ValidationSEM1
Huge Navigator SEM1 [HugePedia]
snp3D : Map Gene to Disease7979
BioCentury BCIQSEM1
ClinGenSEM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7979
Chemical/Pharm GKB GenePA35749
Clinical trialSEM1
Miscellaneous
canSAR (ICR)SEM1 (select the gene name)
DataMed IndexSEM1
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEM1
EVEXSEM1
GoPubMedSEM1
iHOPSEM1
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 : Wed Nov 13 18:06:41 CET 2019
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.