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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.

Additional gene information for BLOC1S1-RDH5 Gene

No data available for CIViC summary , 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

GeneHancer (GH) Regulatory Elements for BLOC1S1-RDH5 Gene

Promoters and enhancers for BLOC1S1-RDH5 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
GH12I055715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 0.8 +2.6 2638 7.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RDH5 BLOC1S1 PIR49113 PIR46127 BAZ2A DNAJC14 RN7SL809P TMEM198B PAN2 CDK2
GH12I055711 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 0.8 -3.0 -3033 2.6 NFIB JUN CEBPB ATF2 JUND NFIC CREB1 HNF4A ATF7 FOS ITGA7 BLOC1S1 OR10P1 BLOC1S1-RDH5 METTL7B
GH12I055702 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 0.4 -9.4 -9385 8.1 FOXA2 SIN3A GLIS2 ZNF143 ATF7 SP3 SP5 GLIS1 WT1 FOXP1 ITGA7 RN7SL809P RPL41 RBMS2 METTL7B BAZ2A CD63 GDF11 RNU6-343P STAT2
GH12I055680 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 0.3 -34.0 -34015 2.4 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 GLIS2 ATF7 SP3 RXRA METTL7B PAN2 PHC1P1 ENSG00000257509 DNAJC14 TMEM198B SMARCC2 CNPY2 ANKRD52 OR10P1
GH12I055700 Enhancer 1 ENCODE dbSUPER 0.4 -15.2 -15213 0.3 ZSCAN4 ZNF133 KLF17 ZEB1 ZNF335 GLIS2 ZNF366 ZNF391 ZNF280D YY2 BLOC1S1 BLOC1S1-RDH5 ITGA7 METTL7B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Genomic Locations for BLOC1S1-RDH5 Gene

Genomic Locations for BLOC1S1-RDH5 Gene
chr12:55,716,034-55,724,742
(GRCh38/hg38)
Size:
8,709 bases
Orientation:
Plus strand
chr12:56,109,818-56,118,526
(GRCh37/hg19)

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 From GWAS Catalog 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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for BLOC1S1-RDH5 Gene

No Compound Related Data Available

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 CGAP 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs104894373 pathogenic, Fundus albipunctatus, autosomal recessive 55,721,908(+) T/G non_coding_transcript_variant
rs104894374 pathogenic, Fundus albipunctatus, autosomal recessive 55,721,847(+) C/A/T non_coding_transcript_variant
rs111033593 pathogenic, Fundus albipunctatus, autosomal recessive 55,724,468(+) G/C non_coding_transcript_variant
rs1136125 likely-benign, Fundus albipunctatus 55,721,449(+) G/A/T intron_variant
rs114663094 likely-benign, Fundus albipunctatus 55,720,397(+) C/T intron_variant

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 Additional Variant Information for BLOC1S1-RDH5 Gene

Disorders for BLOC1S1-RDH5 Gene

Additional Disease Information for 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 VJ … Hammond CJ (Nature genetics 2013) 3 58
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for BLOC1S1-RDH5 Gene

Sources for BLOC1S1-RDH5 Gene

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