DSCR9 Gene (RNA Gene)

Down Syndrome Critical Region 9

GC21P037208
GIFtS:
25
See more...

Aliases for DSCR9 Gene

Subcategory (RNA class) for DSCR9 Gene

lncRNA

Number of RNA Genes sources:

3 / 17

Aliases for DSCR9 Gene

  • Down Syndrome Critical Region 9 2 3 5
  • DSCR9 2 5 165
  • Down Syndrome Critical Region 9 (Non-Protein Coding) 2 3
  • NCRNA00038 2 3
  • Down Syndrome Critical Region Gene 9 (Non-Protein Coding) 3
  • Down Syndrome Critical Region Protein 9 4
  • Non-Protein Coding RNA 38 2
  • NONHSAG032803.2 91
  • HSALNG0132984 164

External Ids for DSCR9 Gene

Previous GeneCards Identifiers for DSCR9 Gene

  • GC21P035170
  • GC21P037513
  • GC21P037502
  • GC21P038580
  • GC21P024056

Summaries for DSCR9 Gene

GeneCards Summary for DSCR9 Gene

DSCR9 (Down Syndrome Critical Region 9) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with DSCR9 include Down Syndrome.

Additional gene information for DSCR9 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSCR9 Gene

Genomics for DSCR9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DSCR9 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH21J037206 Promoter/Enhancer 1.2 Ensembl ENCODE 600.7 -0.5 -486 3.1 SP1 HNRNPL GATAD2A POLR2A ZNF143 RELA ZIC2 ZNF24 REST IKZF2 DSCR9 TTC3 PIGP VPS26C TTC3-AS1
GH21J036697 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 -507.4 -507411 7 PRDM10 ZNF629 ZNF512 KDM1A ZNF692 ZNF300 PRDM1 ZIC2 ZSCAN4 RBFOX2 SIM2 ENSG00000224269 LOC107985492 SETD4 ENSG00000242553 RIMKLBP1 TTC3-AS1 TTC3 DSCR9 MORC3
GH21J037219 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 +12.9 12898 3.2 SP1 TFE3 IKZF1 NFKBIZ CTCF POLR2A BACH1 TARDBP JUND ETV6 ENSG00000242553 DYRK1A PIGP TTC3 MORC3 RF00017-3708 lnc-TTC3-3 RN7SL678P DSCR9 VPS26C
GH21J037204 Enhancer 0.4 Ensembl 0.7 -3.8 -3802 0.2 CEBPB MEIS2 IKZF1 VPS26C PIGP TTC3 ENSG00000207416 HLCS MRPL20P1 DSCR9 TTC3-AS1
GH21J037198 Enhancer 0.6 Ensembl ENCODE 0.4 -9.0 -8991 2.6 BHLHE40 JUND CHD1 TTC3 VPS26C PIGP HLCS MRPL20P1 ENSG00000207416 DSCR9 TTC3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSCR9 on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the DSCR9 gene promoter:
  • AP-1

Genomic Locations for DSCR9 Gene

Genomic Locations for DSCR9 Gene
chr21:37,208,503-37,221,736
(GRCh38/hg38)
Size:
13,234 bases
Orientation:
Plus strand
chr21:38,580,804-38,594,037
(GRCh37/hg19)
Size:
13,234 bases
Orientation:
Plus strand

Genomic View for DSCR9 Gene

Genes around DSCR9 on UCSC Golden Path with GeneCards custom track
DSCR9 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
DSCR9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSCR9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DSCR9 Gene

Proteins for DSCR9 Gene

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  • Protein details for DSCR9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59020-DSCR9_HUMAN
    Recommended name:
    Down syndrome critical region protein 9
    Protein Accession:
    P59020
    Secondary Accessions:
    • B2R8P8

    Protein attributes for DSCR9 Gene

    Size:
    149 amino acids
    Molecular mass:
    16743 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DSCR9 Gene

Protein Expression for DSCR9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DSCR9 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DSCR9 Gene

Domains & Families for DSCR9 Gene

Gene Families for DSCR9 Gene

HGNC:

Protein Domains for DSCR9 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for DSCR9 Gene

GenScript: Design optimal peptide antigens:
  • Down syndrome critical region protein 9 (DSCR9_HUMAN)
genes like me logo Genes that share domains with DSCR9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DSCR9 Gene

Function for DSCR9 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for DSCR9 Gene

Gene Ontology (GO) - Molecular Function for DSCR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DSCR9: view
genes like me logo Genes that share phenotypes with DSCR9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCR9

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DSCR9 Gene

Localization for DSCR9 Gene

Gene Ontology (GO) - Cellular Components for DSCR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with DSCR9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for DSCR9 Gene

Pathways & Interactions for DSCR9 Gene

PathCards logo

SuperPathways for DSCR9 Gene

No Data Available

Interacting Proteins for DSCR9 Gene

Selected Interacting proteins: P59020-DSCR9_HUMAN for DSCR9 Gene via IID

Symbol External ID(s) Details
APP

Gene Ontology (GO) - Biological Process for DSCR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DSCR9: view

No data available for Pathways by source and SIGNOR curated interactions for DSCR9 Gene

Drugs & Compounds for DSCR9 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DSCR9 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

Non-coding RNA (ncRNA) Transcripts from RNAcentral for DSCR9 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS00001F46A5_9606 lncRNA 751 4

Ensembl: ENST00000585273 (view in UCSC) ,

LncBook: HSALNT0273371,

LNCipedia: DSCR9:7,

NONCODE: NONHSAT082014.2,

URS000055236A_9606 lncRNA 694 4

Ensembl: ENST00000584840 (view in UCSC) ,

LncBook: HSALNT0273370,

LNCipedia: DSCR9:8,

NONCODE: NONHSAT082017.2,

URS00002AA195_9606 lncRNA 661 4

Ensembl: ENST00000578829 (view in UCSC) ,

LncBook: HSALNT0273368,

LNCipedia: DSCR9:5,

NONCODE: NONHSAT082015.2,

URS000027D3DC_9606 lncRNA 472 4

Ensembl: ENST00000581640 (view in UCSC) ,

LncBook: HSALNT0273369,

LNCipedia: DSCR9:6,

NONCODE: NONHSAT082016.2,

URS0000493099_9606 lncRNA 1644 2

Ensembl: ENST00000454482 (view in UCSC) ,

LNCipedia: DSCR9:9,

DSCR9 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for DSCR9 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCR9

Alternative Splicing Database (ASD) splice patterns (SP) for DSCR9 Gene

No ASD Table

Relevant External Links for DSCR9 Gene

GeneLoc Exon Structure for
DSCR9

Expression for DSCR9 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSCR9 Gene

mRNA expression in normal human tissues for DSCR9 Gene
mRNA expression by GTEx for DSCR9 Gene

Protein differential expression in normal tissues from HIPED for DSCR9 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DSCR9 Gene



Protein tissue co-expression partners for DSCR9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSCR9

SOURCE GeneReport for Unigene cluster for DSCR9 Gene:

Hs.505159

mRNA Expression by UniProt/SwissProt for DSCR9 Gene:

P59020-DSCR9_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with DSCR9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DSCR9 Gene

Orthologs for DSCR9 Gene

Evolution for DSCR9 Gene

ENSEMBL:
Gene Tree for DSCR9 (if available)
TreeFam:
Gene Tree for DSCR9 (if available)

No data available for Orthologs for DSCR9 Gene

Paralogs for DSCR9 Gene

No data available for Paralogs for DSCR9 Gene

Variants for DSCR9 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSCR9 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs13864 - p.Arg76Leu
rs1888464 - p.Gly23Val

Additional dbSNP identifiers (rs#s) for DSCR9 Gene

Structural Variations from Database of Genomic Variants (DGV) for DSCR9 Gene

Variant ID Type Subtype PubMed ID
dgv70n68 CNV gain 17160897
nsv3512 CNV deletion 18451855

Additional Variant Information for DSCR9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSCR9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DSCR9 Gene

Disorders for DSCR9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DSCR9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards
Search DSCR9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DSCR9

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DSCR9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSCR9 Gene

Publications for DSCR9 Gene

  1. Identification of two novel primate-specific genes in DSCR. (PMID: 12168953) Takamatsu K … Takeda T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network. (PMID: 29351810) Chen M … Chen D (Human genomics 2018) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3
  5. Digital quantification of human eye color highlights genetic association of three new loci. (PMID: 20463881) Liu F … Kayser M (PLoS genetics 2010) 3

ExternalLinks

View latest publications for DSCR9 gene in Mastermind

Products for DSCR9 Gene

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