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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]
SEPT5-GP1BB (SEPT5-GP1BB Readthrough) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SEPT5-GP1BB include Bernard-Soulier Syndrome. An important paralog of this gene is SEPTIN5.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH22J019717 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.2 | 1197 | 2.8 | RNF2 ARHGAP35 CTCF ZBTB33 HNRNPL LEF1 IKZF1 ZNF692 BACH1 TARDBP | SEPT5-GP1BB LINC01311 DGCR8 RANBP1 TRMT2A ENSG00000215493 CDC45 ZNF74 UFD1 ABHD17AP4 | |
GH22J019713 | Promoter/Enhancer | 1.9 | EPDnew Ensembl CraniofacialAtlas | 600.7 | -2.5 | -2519 | 2.6 | ARHGAP35 HNRNPL PRDM10 IKZF1 KDM1A MTA2 PHF21A ZIC2 PKNOX1 POLR2A | SEPT5-GP1BB SEPTIN5 lnc-GNB1L-1 GP1BB | |
GH22J019721 | Promoter | 0.8 | EPDnew | 600.7 | +4.7 | 4720 | 0.1 | RNF2 ARHGAP35 ZNF24 EZH2 CBX3 ZNF184 EGR1 ZBTB2 HDGF ZBED1 | GP1BB SEPT5-GP1BB SEPTIN5 | |
GH22J019723 | Promoter | 0.6 | EPDnew | 600.7 | +2.9 | 2893 | 0.1 | HDGF ZKSCAN1 ZBTB33 EZH2 | SEPT5-GP1BB GP1BB SEPTIN5 | |
GH22J019720 | Promoter | 0.5 | EPDnew | 600.7 | +3.6 | 3582 | 0.1 | EZH2 ARID2 | SEPT5-GP1BB GP1BB SEPTIN5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008021 | synaptic vesicle | IEA | -- |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS000075A8B7_9606 | lncRNA | 4671 | 1 |
RefSeq: NR_037611, |
URS000075AE95_9606 | lncRNA | 3175 | 1 |
RefSeq: NR_037612, |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
626963 | Uncertain Significance: Abnormal bleeding | 19,723,949(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
627039 | Likely Pathogenic: Thrombocytopenia | 19,724,070(+) | ACGCGCTGCC/A | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION | |
627056 | Likely Pathogenic: Thrombocytopenia; Macrothrombocytopenia | 19,724,238(+) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
627061 | Uncertain Significance: Thrombocytopenia | 19,724,250(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
627068 | Uncertain Significance: Thrombocytopenia | 19,724,277(+) | C/G | MISSENSE_VARIANT,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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bernard-soulier syndrome |
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