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Aliases for SEPT5-GP1BB Gene

Subcategory (RNA class) for SEPT5-GP1BB Gene

ncRNA

Quality Score for this RNA gene is

1

Aliases for SEPT5-GP1BB Gene

  • SEPT5-GP1BB Readthrough 3

External Ids for SEPT5-GP1BB Gene

Previous GeneCards Identifiers for SEPT5-GP1BB Gene

  • GC22U900737

Summaries for SEPT5-GP1BB Gene

Entrez Gene Summary for SEPT5-GP1BB Gene

  • This locus represents naturally occurring read-through transcription between the neighboring SEPT5 (septin 5) and GP1BB (glycoprotein Ib (platelet), beta polypeptide) genes on chromosome 22. This read-through transcription arises from inefficient use of an imperfect polyA signal in the upstream SEPT5 gene, whereby transcription continues into the GP1BB gene. Alternative splicing results in multiple read-through variants. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD), and are therefore unlikely to produce protein products. [provided by RefSeq, Dec 2010]

GeneCards Summary for SEPT5-GP1BB Gene

SEPT5-GP1BB (SEPT5-GP1BB Readthrough) is an RNA Gene, and is affiliated with the ncRNA class.

Additional gene information for SEPT5-GP1BB 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 SEPT5-GP1BB Gene

Genomics for SEPT5-GP1BB Gene

GeneHancer (GH) Regulatory Elements for SEPT5-GP1BB Gene

Promoters and enhancers for SEPT5-GP1BB 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
GH22I019717 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.5 1466 2.3 HDGF PKNOX1 ARNT SIN3A ZNF2 POLR2B ZNF207 ZNF143 ZNF263 SP5 SEPT5 SEPT5-GP1BB DGCR8 LINC01311 RANBP1 ZNF74 TRMT2A UFD1 ABHD17AP4 KLHL22
GH22I019714 Promoter 1.7 EPDnew Ensembl 0.8 -2.7 -2719 1 HDGF PKNOX1 SIN3A GLIS2 ZNF263 NCOA1 ZNF184 SMARCA4 GLIS1 NBN SEPT5 SEPT5-GP1BB
GH22I019722 Promoter/Enhancer 1.7 VISTA EPDnew ENCODE 0.4 +6.2 6186 1.9 HDGF PKNOX1 SMAD1 ARNT POLR2B E2F8 ZNF143 ZNF263 SP5 REST GP1BB DGCR8 TRMT2A LINC01311 LOC100420177 E2F6P1 ZDHHC8 LOC105372861 SEPT5-GP1BB SEPT5
GH22I019723 Enhancer 0.8 ENCODE 0.4 +5.2 5171 0 HDAC1 SMAD1 EGR1 ATF7 PHF21A NCOA1 ZEB2 SP1 MEF2D ZNF184 GP1BB SEPT5-GP1BB SEPT5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEPT5-GP1BB on UCSC Golden Path with GeneCards custom track

Genomic Locations for SEPT5-GP1BB Gene

Genomic Locations for SEPT5-GP1BB Gene
chr22:19,717,220-19,724,774
(GRCh38/hg38)
Size:
7,555 bases
Orientation:
Plus strand
chr22:19,704,743-19,712,297
(GRCh37/hg19)

Genomic View for SEPT5-GP1BB Gene

Genes around SEPT5-GP1BB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT5-GP1BB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT5-GP1BB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT5-GP1BB Gene

Proteins for SEPT5-GP1BB Gene

Post-translational modifications for SEPT5-GP1BB Gene

No Post-translational modifications

No data available for DME Specific Peptides for SEPT5-GP1BB Gene

Domains & Families for SEPT5-GP1BB 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 SEPT5-GP1BB Gene

Function for SEPT5-GP1BB Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SEPT5-GP1BB Gene

Localization for SEPT5-GP1BB 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 SEPT5-GP1BB Gene

Pathways & Interactions for SEPT5-GP1BB Gene

SuperPathways for SEPT5-GP1BB Gene

No Data Available

Interacting Proteins for SEPT5-GP1BB Gene

Gene Ontology (GO) - Biological Process for SEPT5-GP1BB Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SEPT5-GP1BB Gene

Drugs & Compounds for SEPT5-GP1BB Gene

No Compound Related Data Available

Transcripts for SEPT5-GP1BB Gene

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT5-GP1BB Gene

No ASD Table

Relevant External Links for SEPT5-GP1BB Gene

GeneLoc Exon Structure for
SEPT5-GP1BB

No data available for mRNA/cDNA for SEPT5-GP1BB Gene

Expression for SEPT5-GP1BB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT5-GP1BB Gene

genes like me logo Genes that share expression patterns with SEPT5-GP1BB: 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 SEPT5-GP1BB Gene

Orthologs for SEPT5-GP1BB Gene

No data available for Orthologs and Evolution for SEPT5-GP1BB Gene

Paralogs for SEPT5-GP1BB Gene

No data available for Paralogs for SEPT5-GP1BB Gene

Variants for SEPT5-GP1BB Gene

Sequence variations from dbSNP and Humsavar for SEPT5-GP1BB Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs121909750 pathogenic, uncertain-significance, Macrothrombocytopenia, familial, Bernard-Soulier type, not specified 19,724,181(+) A/G/T non_coding_transcript_variant
rs121909751 pathogenic, Macrothrombocytopenia, familial, Bernard-Soulier type 19,724,240(+) G/C non_coding_transcript_variant
rs121909752 pathogenic, Bernard-Soulier syndrome, type B 19,723,980(+) G/A/C non_coding_transcript_variant
rs587783648 likely-pathogenic, Bernard-Soulier syndrome, type B 19,724,183(+) C/T non_coding_transcript_variant
rs730882059 pathogenic, Bernard-Soulier syndrome, type B 19,723,410(+) C/G non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SEPT5-GP1BB Gene

Variant ID Type Subtype PubMed ID
dgv725n67 CNV gain 20364138
esv22571 CNV loss 19812545
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv953023 CNV deletion 24416366

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for SEPT5-GP1BB Gene

Disorders for SEPT5-GP1BB Gene

Additional Disease Information for SEPT5-GP1BB

No disorders were found for SEPT5-GP1BB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEPT5-GP1BB Gene

Publications for SEPT5-GP1BB Gene

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
  3. Structure and expression of the human septin gene HCDCREL-1. (PMID: 9611266) Yagi M … Ware J (Gene 1998) 3 58
  4. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. (PMID: 9022087) Zieger B … Ware J (The Journal of clinical investigation 1997) 3 58
  5. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. (PMID: 8021244) Yagi M … Roth GJ (The Journal of biological chemistry 1994) 3 58

Products for SEPT5-GP1BB Gene

Sources for SEPT5-GP1BB Gene

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