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Aliases for BLOC1S1-RDH5 Gene

Subcategory (RNA class) for BLOC1S1-RDH5 Gene

ncRNA

Quality Score for this RNA gene is

1

Aliases for BLOC1S1-RDH5 Gene

  • BLOC1S1-RDH5 Readthrough 3

External Ids for BLOC1S1-RDH5 Gene

Previous GeneCards Identifiers for BLOC1S1-RDH5 Gene

  • GC12U901513
  • GC12P056120
  • GC12P056131

Summaries for BLOC1S1-RDH5 Gene

Entrez Gene Summary for BLOC1S1-RDH5 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) and RDH5 (retinol dehydrogenase 5, 11-cis/9-cis) genes on chromosome 12. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and it is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010]

GeneCards Summary for BLOC1S1-RDH5 Gene

BLOC1S1-RDH5 (BLOC1S1-RDH5 Readthrough) is an RNA Gene, and is affiliated with the ncRNA class.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S1-RDH5 Gene

Genomics for BLOC1S1-RDH5 Gene

Regulatory Elements for BLOC1S1-RDH5 Gene

Enhancers for BLOC1S1-RDH5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F055711 1.1 Ensembl ENCODE 0.8 -3.0 -3033 2.6 HDAC1 PKNOX1 SIN3A NFXL1 ZNF766 GATA2 FOS ZNF263 ZBTB11 CEBPB ITGA7 BLOC1S1 OR10P1 BLOC1S1-RDH5 METTL7B
GH12F055702 1.1 ENCODE 0.4 -9.4 -9385 8.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RPL41 RBMS2 RNU6-343P CDK2 ESYT1 ITGA7 LOC100131294 OR10A7 OR6C74 RN7SL809P
GH12F055680 1 ENCODE 0.3 -34.0 -34015 2.4 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 SP3 YY2 KAT8 METTL7B PHC1P1 ENSG00000257509 TMEM198B SMARCC2 CNPY2 ANKRD52 OR10P1 BLOC1S1 BLOC1S1-RDH5
GH12F055700 0.9 ENCODE 0.3 -15.2 -15213 0.3 ZNF133 KLF17 ZEB1 GLIS2 ZNF366 ZNF391 ZNF280D YY2 CEBPB USF2 METTL7B BLOC1S1 BLOC1S1-RDH5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BLOC1S1-RDH5 on UCSC Golden Path with GeneCards custom track

Promoters for BLOC1S1-RDH5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001611937 366 1601 PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for BLOC1S1-RDH5 Gene

Chromosome:
12
Start:
55,716,034 bp from pter
End:
55,724,742 bp from pter
Size:
8,709 bases
Orientation:
Plus strand

Genomic View for BLOC1S1-RDH5 Gene

Genes around BLOC1S1-RDH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S1-RDH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S1-RDH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S1-RDH5 Gene

Proteins for BLOC1S1-RDH5 Gene

Post-translational modifications for BLOC1S1-RDH5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for BLOC1S1-RDH5 Gene

Domains & Families for BLOC1S1-RDH5 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for BLOC1S1-RDH5 Gene

Function for BLOC1S1-RDH5 Gene

Phenotypes for BLOC1S1-RDH5 Gene

genes like me logo Genes that share phenotypes with BLOC1S1-RDH5: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BLOC1S1-RDH5 Gene

Localization for BLOC1S1-RDH5 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for BLOC1S1-RDH5 Gene

Pathways & Interactions for BLOC1S1-RDH5 Gene

SuperPathways for BLOC1S1-RDH5 Gene

No Data Available

Interacting Proteins for BLOC1S1-RDH5 Gene

Gene Ontology (GO) - Biological Process for BLOC1S1-RDH5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BLOC1S1-RDH5 Gene

Transcripts for BLOC1S1-RDH5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S1-RDH5 Gene

No ASD Table

Relevant External Links for BLOC1S1-RDH5 Gene

GeneLoc Exon Structure for
BLOC1S1-RDH5

No data available for mRNA/cDNA for BLOC1S1-RDH5 Gene

Expression for BLOC1S1-RDH5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BLOC1S1-RDH5 Gene

genes like me logo Genes that share expression patterns with BLOC1S1-RDH5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BLOC1S1-RDH5 Gene

Orthologs for BLOC1S1-RDH5 Gene

No data available for Orthologs and Evolution for BLOC1S1-RDH5 Gene

Paralogs for BLOC1S1-RDH5 Gene

No data available for Paralogs for BLOC1S1-RDH5 Gene

Variants for BLOC1S1-RDH5 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S1-RDH5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs104894373 Pathogenic 55,721,908(+) CTGTG(G/T)CTCCA nc-transcript-variant, reference, missense
rs104894374 Pathogenic 55,721,847(+) GGGGC(C/T)GGGTG nc-transcript-variant, reference, missense
rs111033593 Pathogenic 55,724,468(+) TGCCT(C/G)CCTCC nc-transcript-variant, reference, missense
rs267607006 Pathogenic 55,724,516(+) GGGTC(C/GAAG)TTCCC nc-transcript-variant, cds-indel
rs62638185 Pathogenic 55,721,402(+) GGCCT(C/T)CTCCC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S1-RDH5 Gene

Variant ID Type Subtype PubMed ID
nsv469410 CNV loss 19166990
nsv525231 CNV loss 19592680
nsv559004 CNV loss 21841781
nsv559005 CNV loss 21841781
nsv832423 CNV gain 17160897

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for BLOC1S1-RDH5 Gene

Disorders for BLOC1S1-RDH5 Gene

Relevant External Links for BLOC1S1-RDH5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLOC1S1-RDH5

No disorders were found for BLOC1S1-RDH5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BLOC1S1-RDH5 Gene

Publications for BLOC1S1-RDH5 Gene

  1. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (PMID: 23396134) Verhoeven V.J. … Hammond C.J. (Nat. Genet. 2013) 3 64
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64

Products for BLOC1S1-RDH5 Gene

Sources for BLOC1S1-RDH5 Gene

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