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DISC1 (DISC1 scaffold protein)

Identity

Other aliasC1orf136
SCZD9
HGNC (Hugo) DISC1
LocusID (NCBI) 27185
Atlas_Id 46081
Location 1q42.2  [Link to chromosome band 1q42]
Location_base_pair Starts at 231626815 and ends at 232041273 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)
LYST (1q42.3) / DISC1 (1q42.2)OBSCN (1q42.13) / DISC1 (1q42.2)PBX1 (1q23.3) / DISC1 (1q42.2)
TSNAX (1q42.2) / DISC1 (1q42.2)LYST 1q42.3 / DISC1 1q42.2OBSCN 1q42.13 / DISC1 1q42.2
PBX1 1q23.3 / DISC1 1q42.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;1)(q23;q42) PBX1/DISC1
LYST/DISC1 (1q42)
OBSCN/DISC1 (1q42)
TSNAX/DISC1 (1q42)


External links

Nomenclature
HGNC (Hugo)DISC1   2888
Cards
Entrez_Gene (NCBI)DISC1  27185  DISC1 scaffold protein
AliasesC1orf136; SCZD9
GeneCards (Weizmann)DISC1
Ensembl hg19 (Hinxton)ENSG00000162946 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162946 [Gene_View]  ENSG00000162946 [Sequence]  chr1:231626815-232041273 [Contig_View]  DISC1 [Vega]
ICGC DataPortalENSG00000162946
TCGA cBioPortalDISC1
AceView (NCBI)DISC1
Genatlas (Paris)DISC1
WikiGenes27185
SOURCE (Princeton)DISC1
Genetics Home Reference (NIH)DISC1
Genomic and cartography
GoldenPath hg38 (UCSC)DISC1  -     chr1:231626815-232041273 +  1q42.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DISC1  -     1q42.2   [Description]    (hg19-Feb_2009)
EnsemblDISC1 - 1q42.2 [CytoView hg19]  DISC1 - 1q42.2 [CytoView hg38]
Mapping of homologs : NCBIDISC1 [Mapview hg19]  DISC1 [Mapview hg38]
OMIM604906   605210   
Gene and transcription
Genbank (Entrez)AB007926 AF222980 AI075754 AJ506177 AJ506178
RefSeq transcript (Entrez)NM_001012957 NM_001012958 NM_001012959 NM_001039383 NM_001164537 NM_001164538 NM_001164539 NM_001164540 NM_001164541 NM_001164542 NM_001164544 NM_001164545 NM_001164546 NM_001164547 NM_001164548 NM_001164549 NM_001164550 NM_001164551 NM_001164552 NM_001164553 NM_001164554 NM_001164555 NM_001164556 NM_018662
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DISC1
Cluster EST : UnigeneHs.13318 [ NCBI ]
CGAP (NCI)Hs.13318
Alternative Splicing GalleryENSG00000162946
Gene ExpressionDISC1 [ NCBI-GEO ]   DISC1 [ EBI - ARRAY_EXPRESS ]   DISC1 [ SEEK ]   DISC1 [ MEM ]
Gene Expression Viewer (FireBrowse)DISC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27185
GTEX Portal (Tissue expression)DISC1
Human Protein AtlasENSG00000162946-DISC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRI5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRI5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRI5
Splice isoforms : SwissVarQ9NRI5
PhosPhoSitePlusQ9NRI5
Domains : Interpro (EBI)DISC1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DISC1
DMDM Disease mutations27185
Blocks (Seattle)DISC1
PDB (SRS)5V4B   
PDB (PDBSum)5V4B   
PDB (IMB)5V4B   
PDB (RSDB)5V4B   
Structural Biology KnowledgeBase5V4B   
SCOP (Structural Classification of Proteins)5V4B   
CATH (Classification of proteins structures)5V4B   
SuperfamilyQ9NRI5
Human Protein Atlas [tissue]ENSG00000162946-DISC1 [tissue]
Peptide AtlasQ9NRI5
HPRD05553
IPIIPI00032896   IPI00935747   IPI00554636   IPI00217534   IPI00219639   IPI00443835   IPI00938374   IPI00647301   IPI00944491   IPI00644606   IPI00944621   IPI00645644   IPI00944497   IPI00944658   IPI01014360   IPI00944644   IPI00944486   IPI00941104   IPI00944459   IPI00944471   IPI00513903   IPI00944566   IPI00944517   IPI00937154   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRI5
IntAct (EBI)Q9NRI5
FunCoupENSG00000162946
BioGRIDDISC1
STRING (EMBL)DISC1
ZODIACDISC1
Ontologies - Pathways
QuickGOQ9NRI5
Ontology : AmiGOmicrotubule cytoskeleton organization  neuron migration  positive regulation of neuroblast proliferation  protein binding  mitochondrion  centrosome  microtubule  postsynaptic density  Wnt signaling pathway  cell junction  positive regulation of Wnt signaling pathway  negative regulation of protein binding  intermediate filament cytoskeleton  postsynaptic membrane  ciliary base  non-motile cilium assembly  
Ontology : EGO-EBImicrotubule cytoskeleton organization  neuron migration  positive regulation of neuroblast proliferation  protein binding  mitochondrion  centrosome  microtubule  postsynaptic density  Wnt signaling pathway  cell junction  positive regulation of Wnt signaling pathway  negative regulation of protein binding  intermediate filament cytoskeleton  postsynaptic membrane  ciliary base  non-motile cilium assembly  
NDEx NetworkDISC1
Atlas of Cancer Signalling NetworkDISC1
Wikipedia pathwaysDISC1
Orthology - Evolution
OrthoDB27185
GeneTree (enSembl)ENSG00000162946
Phylogenetic Trees/Animal Genes : TreeFamDISC1
HOVERGENQ9NRI5
HOGENOMQ9NRI5
Homologs : HomoloGeneDISC1
Homology/Alignments : Family Browser (UCSC)DISC1
Gene fusions - Rearrangements
Fusion : MitelmanLYST/DISC1 [1q42.3/1q42.2]  [t(1;1)(q42;q42)]  
Fusion : MitelmanOBSCN/DISC1 [1q42.13/1q42.2]  [t(1;1)(q42;q42)]  
Fusion : MitelmanPBX1/DISC1 [1q23.3/1q42.2]  [t(1;1)(q23;q42)]  
Fusion : MitelmanTSNAX/DISC1 [1q42.2/1q42.2]  [t(1;1)(q42;q42)]  
Fusion PortalLYST 1q42.3 DISC1 1q42.2 HNSC
Fusion PortalOBSCN 1q42.13 DISC1 1q42.2 SKCM
Fusion PortalPBX1 1q23.3 DISC1 1q42.2 BRCA
Fusion : QuiverDISC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDISC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DISC1
dbVarDISC1
ClinVarDISC1
1000_GenomesDISC1 
Exome Variant ServerDISC1
ExAC (Exome Aggregation Consortium)ENSG00000162946
GNOMAD BrowserENSG00000162946
Varsome BrowserDISC1
Genetic variants : HAPMAP27185
Genomic Variants (DGV)DISC1 [DGVbeta]
DECIPHERDISC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDISC1 
Mutations
ICGC Data PortalDISC1 
TCGA Data PortalDISC1 
Broad Tumor PortalDISC1
OASIS PortalDISC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDISC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDISC1
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 DISC1
DgiDB (Drug Gene Interaction Database)DISC1
DoCM (Curated mutations)DISC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DISC1 (select a term)
intoGenDISC1
Cancer3DDISC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604906    605210   
Orphanet17930   
DisGeNETDISC1
MedgenDISC1
Genetic Testing Registry DISC1
NextProtQ9NRI5 [Medical]
TSGene27185
GENETestsDISC1
Target ValidationDISC1
Huge Navigator DISC1 [HugePedia]
snp3D : Map Gene to Disease27185
BioCentury BCIQDISC1
ClinGenDISC1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27185
Chemical/Pharm GKB GenePA27342
Clinical trialDISC1
Miscellaneous
canSAR (ICR)DISC1 (select the gene name)
Probes
Litterature
PubMed250 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDISC1
EVEXDISC1
GoPubMedDISC1
iHOPDISC1
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 : Tue Nov 6 11:02:31 CET 2018

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