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SHLD1 (shieldin complex subunit 1)

Identity

Other aliasC20orf196
RINN3
HGNC (Hugo) SHLD1
LocusID (NCBI) 149840
Atlas_Id 57426
Location 20p12.3  [Link to chromosome band 20p12]
Location_base_pair Starts at 5750387 and ends at 5864407 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


External links

Nomenclature
HGNC (Hugo)SHLD1   26318
Cards
Entrez_Gene (NCBI)SHLD1  149840  shieldin complex subunit 1
AliasesC20orf196; RINN3
GeneCards (Weizmann)SHLD1
Ensembl hg19 (Hinxton)ENSG00000171984 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171984 [Gene_View]  ENSG00000171984 [Sequence]  chr20:5750387-5864407 [Contig_View]  SHLD1 [Vega]
ICGC DataPortalENSG00000171984
TCGA cBioPortalSHLD1
AceView (NCBI)SHLD1
Genatlas (Paris)SHLD1
WikiGenes149840
SOURCE (Princeton)SHLD1
Genetics Home Reference (NIH)SHLD1
Genomic and cartography
GoldenPath hg38 (UCSC)SHLD1  -     chr20:5750387-5864407 +  20p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHLD1  -     20p12.3   [Description]    (hg19-Feb_2009)
EnsemblSHLD1 - 20p12.3 [CytoView hg19]  SHLD1 - 20p12.3 [CytoView hg38]
Mapping of homologs : NCBISHLD1 [Mapview hg19]  SHLD1 [Mapview hg38]
OMIM618028   
Gene and transcription
Genbank (Entrez)AK057796 AK292708 AK310715 AV715251 BC035800
RefSeq transcript (Entrez)NM_001303477 NM_001303478 NM_001303479 NM_152504
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHLD1
Cluster EST : UnigeneHs.529340 [ NCBI ]
CGAP (NCI)Hs.529340
Alternative Splicing GalleryENSG00000171984
Gene ExpressionSHLD1 [ NCBI-GEO ]   SHLD1 [ EBI - ARRAY_EXPRESS ]   SHLD1 [ SEEK ]   SHLD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SHLD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)149840
GTEX Portal (Tissue expression)SHLD1
Human Protein AtlasENSG00000171984-SHLD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYI0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYI0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYI0
Splice isoforms : SwissVarQ8IYI0
PhosPhoSitePlusQ8IYI0
Domains : Interpro (EBI)DUF4521   
Domain families : Pfam (Sanger)DUF4521 (PF15021)   
Domain families : Pfam (NCBI)pfam15021   
Conserved Domain (NCBI)SHLD1
DMDM Disease mutations149840
Blocks (Seattle)SHLD1
SuperfamilyQ8IYI0
Human Protein Atlas [tissue]ENSG00000171984-SHLD1 [tissue]
Peptide AtlasQ8IYI0
IPIIPI00844108   IPI00387057   IPI01010237   IPI00642519   IPI00645105   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYI0
IntAct (EBI)Q8IYI0
FunCoupENSG00000171984
BioGRIDSHLD1
STRING (EMBL)SHLD1
ZODIACSHLD1
Ontologies - Pathways
QuickGOQ8IYI0
Ontology : AmiGOprotein binding  chromosome  DNA repair  site of double-strand break  positive regulation of isotype switching  negative regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair via nonhomologous end joining  
Ontology : EGO-EBIprotein binding  chromosome  DNA repair  site of double-strand break  positive regulation of isotype switching  negative regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair via nonhomologous end joining  
NDEx NetworkSHLD1
Atlas of Cancer Signalling NetworkSHLD1
Wikipedia pathwaysSHLD1
Orthology - Evolution
OrthoDB149840
GeneTree (enSembl)ENSG00000171984
Phylogenetic Trees/Animal Genes : TreeFamSHLD1
HOVERGENQ8IYI0
HOGENOMQ8IYI0
Homologs : HomoloGeneSHLD1
Homology/Alignments : Family Browser (UCSC)SHLD1
Gene fusions - Rearrangements
Fusion : QuiverSHLD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHLD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHLD1
dbVarSHLD1
ClinVarSHLD1
1000_GenomesSHLD1 
Exome Variant ServerSHLD1
ExAC (Exome Aggregation Consortium)ENSG00000171984
GNOMAD BrowserENSG00000171984
Varsome BrowserSHLD1
Genetic variants : HAPMAP149840
Genomic Variants (DGV)SHLD1 [DGVbeta]
DECIPHERSHLD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHLD1 
Mutations
ICGC Data PortalSHLD1 
TCGA Data PortalSHLD1 
Broad Tumor PortalSHLD1
OASIS PortalSHLD1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSHLD1
BioMutasearch SHLD1
DgiDB (Drug Gene Interaction Database)SHLD1
DoCM (Curated mutations)SHLD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHLD1 (select a term)
intoGenSHLD1
Cancer3DSHLD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618028   
Orphanet
DisGeNETSHLD1
MedgenSHLD1
Genetic Testing Registry SHLD1
NextProtQ8IYI0 [Medical]
TSGene149840
GENETestsSHLD1
Target ValidationSHLD1
Huge Navigator SHLD1 [HugePedia]
snp3D : Map Gene to Disease149840
BioCentury BCIQSHLD1
ClinGenSHLD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD149840
Chemical/Pharm GKB GenePA145149476
Clinical trialSHLD1
Miscellaneous
canSAR (ICR)SHLD1 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHLD1
EVEXSHLD1
GoPubMedSHLD1
iHOPSHLD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:38:57 CET 2018

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