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SCMH1 (sex comb on midleg homolog 1 (Drosophila))

Identity

Alias_symbol (synonym)Scml3
Other alias
HGNC (Hugo) SCMH1
LocusID (NCBI) 22955
Atlas_Id 73042
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 41027199 and ends at 41161432 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MEAF6 (1p34.3) / SCMH1 (1p34.2)SCMH1 (1p34.2) / AKAP9 (7q21.2)SCMH1 (1p34.2) / CUL3 (2q36.2)
SCMH1 (1p34.2) / EIF2B3 (1p34.1)SCMH1 (1p34.2) / GPBP1L1 (1p34.1)SCMH1 (1p34.2) / PPT1 (1p34.2)
SCMH1 (1p34.2) / SGK494 (17q11.2)SCMH1 (1p34.2) / SHISA5 (3p21.31)SCMH1 PPT1
SCMH1 EIF2B3SCMH1 GPBP1L1SCMH1 SHISA5
SCMH1 CUL3

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)SCMH1   19003
Cards
Entrez_Gene (NCBI)SCMH1  22955  sex comb on midleg homolog 1 (Drosophila)
AliasesScml3
GeneCards (Weizmann)SCMH1
Ensembl hg19 (Hinxton)ENSG00000010803 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000010803 [Gene_View]  chr1:41027199-41161432 [Contig_View]  SCMH1 [Vega]
ICGC DataPortalENSG00000010803
TCGA cBioPortalSCMH1
AceView (NCBI)SCMH1
Genatlas (Paris)SCMH1
WikiGenes22955
SOURCE (Princeton)SCMH1
Genetics Home Reference (NIH)SCMH1
Genomic and cartography
GoldenPath hg38 (UCSC)SCMH1  -     chr1:41027199-41161432 -  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCMH1  -     1p34.2   [Description]    (hg19-Feb_2009)
EnsemblSCMH1 - 1p34.2 [CytoView hg19]  SCMH1 - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBISCMH1 [Mapview hg19]  SCMH1 [Mapview hg38]
OMIM616396   
Gene and transcription
Genbank (Entrez)AA912153 AF149045 AF149046 AK023124 AK299383
RefSeq transcript (Entrez)NM_001031694 NM_001172218 NM_001172219 NM_001172220 NM_001172221 NM_001172222 NM_001350667 NM_001350668 NM_012236
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCMH1
Cluster EST : UnigeneHs.571874 [ NCBI ]
CGAP (NCI)Hs.571874
Alternative Splicing GalleryENSG00000010803
Gene ExpressionSCMH1 [ NCBI-GEO ]   SCMH1 [ EBI - ARRAY_EXPRESS ]   SCMH1 [ SEEK ]   SCMH1 [ MEM ]
Gene Expression Viewer (FireBrowse)SCMH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22955
GTEX Portal (Tissue expression)SCMH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96GD3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96GD3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96GD3
Splice isoforms : SwissVarQ96GD3
PhosPhoSitePlusQ96GD3
Domaine pattern : Prosite (Expaxy)MBT (PS51079)    SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)Mbt    SAM    SAM/pointed    SCML2_RBR    SLED   
Domain families : Pfam (Sanger)MBT (PF02820)    RBR (PF17208)    SAM_1 (PF00536)    SLED (PF12140)   
Domain families : Pfam (NCBI)pfam02820    pfam17208    pfam00536    pfam12140   
Domain families : Smart (EMBL)MBT (SM00561)  SAM (SM00454)  
Conserved Domain (NCBI)SCMH1
DMDM Disease mutations22955
Blocks (Seattle)SCMH1
PDB (SRS)2P0K   
PDB (PDBSum)2P0K   
PDB (IMB)2P0K   
PDB (RSDB)2P0K   
Structural Biology KnowledgeBase2P0K   
SCOP (Structural Classification of Proteins)2P0K   
CATH (Classification of proteins structures)2P0K   
SuperfamilyQ96GD3
Human Protein AtlasENSG00000010803
Peptide AtlasQ96GD3
HPRD11540
IPIIPI00187110   IPI00479699   IPI00552451   IPI00552650   IPI00396653   IPI00910048   
Protein Interaction databases
DIP (DOE-UCLA)Q96GD3
IntAct (EBI)Q96GD3
FunCoupENSG00000010803
BioGRIDSCMH1
STRING (EMBL)SCMH1
ZODIACSCMH1
Ontologies - Pathways
QuickGOQ96GD3
Ontology : AmiGODNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  chromatin remodeling  transcription, DNA-templated  spermatogenesis  anatomical structure morphogenesis  anterior/posterior pattern specification  chromocenter  gene silencing  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  
Ontology : EGO-EBIDNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  chromatin remodeling  transcription, DNA-templated  spermatogenesis  anatomical structure morphogenesis  anterior/posterior pattern specification  chromocenter  gene silencing  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  
NDEx NetworkSCMH1
Atlas of Cancer Signalling NetworkSCMH1
Wikipedia pathwaysSCMH1
Orthology - Evolution
OrthoDB22955
GeneTree (enSembl)ENSG00000010803
Phylogenetic Trees/Animal Genes : TreeFamSCMH1
HOVERGENQ96GD3
HOGENOMQ96GD3
Homologs : HomoloGeneSCMH1
Homology/Alignments : Family Browser (UCSC)SCMH1
Gene fusions - Rearrangements
Fusion: TCGASCMH1 PPT1
Fusion: TCGASCMH1 EIF2B3
Fusion: TCGASCMH1 GPBP1L1
Fusion: TCGASCMH1 SHISA5
Fusion: TCGASCMH1 CUL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCMH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCMH1
dbVarSCMH1
ClinVarSCMH1
1000_GenomesSCMH1 
Exome Variant ServerSCMH1
ExAC (Exome Aggregation Consortium)SCMH1 (select the gene name)
Genetic variants : HAPMAP22955
Genomic Variants (DGV)SCMH1 [DGVbeta]
DECIPHERSCMH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCMH1 
Mutations
ICGC Data PortalSCMH1 
TCGA Data PortalSCMH1 
Broad Tumor PortalSCMH1
OASIS PortalSCMH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCMH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCMH1
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 SCMH1
DgiDB (Drug Gene Interaction Database)SCMH1
DoCM (Curated mutations)SCMH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCMH1 (select a term)
intoGenSCMH1
Cancer3DSCMH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616396   
Orphanet
MedgenSCMH1
Genetic Testing Registry SCMH1
NextProtQ96GD3 [Medical]
TSGene22955
GENETestsSCMH1
Target ValidationSCMH1
Huge Navigator SCMH1 [HugePedia]
snp3D : Map Gene to Disease22955
BioCentury BCIQSCMH1
ClinGenSCMH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22955
Chemical/Pharm GKB GenePA134870272
Clinical trialSCMH1
Miscellaneous
canSAR (ICR)SCMH1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCMH1
EVEXSCMH1
GoPubMedSCMH1
iHOPSCMH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:40:06 CEST 2017

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