RnoEX6011828 @ rn6
Exon Skipping
Gene
ENSRNOG00000012957 | Sh3glb1
Description
SH3 domain -containing GRB2-like endophilin B1 [Source:RGD Symbol;Acc:1304859]
Coordinates
chr2:250722610-250730190:-
Coord C1 exon
chr2:250730098-250730190
Coord A exon
chr2:250726854-250726940
Coord C2 exon
chr2:250722610-250722699
Length
87 bp
Sequences
Splice sites
3' ss Seq
CTCTCACCTATGCACTTAAGCAA
3' ss Score
0.47
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
AAAGAAAGGAAGCTATTACAGAATAAGAGACTGGATTTGGATGCTGCAAAAACAAGACTAAAAAAGGCAAAAGCTGCAGAAACTAAAAGTTCA
Seq A exon
CAACTAAACTCGGCCCGCCCTGAAGGAGATAACATTATGGTAAATTTCTCTTACATGCTCAACTTCCTGCATGTAAAATGGCTGAAG
Seq C2 exon
TCTGAACAGGAATTAAGAATAACTCAAAGTGAATTTGATCGTCAGGCAGAGATTACCCGTCTTCTGCTGGAAGGAATCAGCAGTACACAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSRNOG00000012957-'9-13,'9-11,13-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.155 A=0.172 C2=0.100
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(11.8=100),PF146121=Ino80_Iec3=FE(21.4=100)
A:
PF0311413=BAR=FE(10.2=100)
C2:
PF0311413=BAR=FE(11.4=100),PF146121=Ino80_Iec3=FE(20.7=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAGCTATTACAGAATAAGAGACT
R:
TGCTGATTCCTTCCAGCAGAA
Band lengths:
169-256
Functional annotations
There are 2 annotated functions for this event
PMID: 24523556
HsaEX0058019 and HsaEX0058023 are often included together. This splice isoform is associated with increased neuronal viability and mitochondrial elongation. The mitochondrial effect is associated with mitochondrial maintenance and function. Loss of this isoform is suggested to render neurons more susceptible to apoptotic stress.
PMID: 29759485
Isoforms 1b + 1c (represented by joint inclusion of this event and HsaEX0058023), show an antiapoptotic effect in human androgen-sensitive prostate cancer cell lines, while isoform 1a (corresponding to skipping of both exons) shows a pro-apoptotic effect. Isoforms 1b and 1c are up-regulated in patient-derived samples of treatment-induced neuroendocrine prostate cancer, which is a very aggressive and metastatic form of prostate cancer characterised by increased expression of SRRM4 (ENSG00000139767), a known master regulator of microexon inclusion in neuronal-related cell types. In contrast, prostate adenocarcinoma samples predominantly express isoform 1a.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]