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
- Entrez Gene: 100526833
Previous GeneCards Identifiers for SEPT5-GP1BB Gene
- GC22U900737
Summaries 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
Regulatory Element Products
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:
-
- 22q11.21 by Entrez Gene
SEPT5-GP1BB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SEPT5-GP1BB Gene
Proteins for SEPT5-GP1BB Gene
Post-translational modifications for SEPT5-GP1BB Gene
No Post-translational modifications
Antibody Products
- Search GeneTex for Antibodies for SEPT5-GP1BB
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SEPT5-GP1BB
- Origene Custom Protein Services for SEPT5-GP1BB
- Search GeneTex for Proteins for SEPT5-GP1BB
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
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SEPT5-GP1BB
-
- Search ViGene Biosciences for SEPT5-GP1BB
CRISPR Products
- Browse CRISPR knockouts for SEPT5-GP1BB
miRNA Products
- Search ViGene Biosciences for SEPT5-GP1BB
Inhibitory RNA Products
- Search ViGene Biosciences for SEPT5-GP1BB
Clone Products
- GenScript: Custom all cDNA clones Services for SEPT5-GP1BB
- VectorBuilder custom plasmid, inducible vectors for SEPT5-GP1BB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPT5-GP1BB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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
Transcripts for SEPT5-GP1BB Gene
CRISPR Products
- Browse CRISPR knockouts for SEPT5-GP1BB
miRNA Products
- Search ViGene Biosciences for SEPT5-GP1BB
Inhibitory RNA Products
- Search ViGene Biosciences for SEPT5-GP1BB
Clone Products
- GenScript: Custom all cDNA clones Services for SEPT5-GP1BB
- VectorBuilder custom plasmid, inducible vectors for SEPT5-GP1BB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPT5-GP1BB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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
Primer Products
Gene Expression Assay Products
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
| 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 |
| 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 |
SNP Genotyping and Copy Number Assay Products
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
- Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
- 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
- Structure and expression of the human septin gene HCDCREL-1. (PMID: 9611266) Yagi M … Ware J (Gene 1998) 3 58
- 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
- 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
- Browse R&D Systems for Antibodies
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for SEPT5-GP1BB
- VectorBuilder custom plasmid, inducible vectors for SEPT5-GP1BB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPT5-GP1BB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for SEPT5-GP1BB
- Search GeneTex for Proteins for SEPT5-GP1BB
- Search ViGene Biosciences for SEPT5-GP1BB
Sources for SEPT5-GP1BB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
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- (110) ClinicalTrials
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- (148) abm
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- (150) Human Protein Atlas
- (151) GWAS Catalog
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems