DreEX0066001 @ danRer10
Exon Skipping
Gene
ENSDARG00000008983 | sh3glb2a
Description
SH3-domain GRB2-like endophilin B2a [Source:ZFIN;Acc:ZDB-GENE-061201-8]
Coordinates
chr8:2718719-2722254:+
Coord C1 exon
chr8:2718719-2718781
Coord A exon
chr8:2719994-2720017
Coord C2 exon
chr8:2722165-2722254
Length
24 bp
Sequences
Splice sites
3' ss Seq
GTTGTCTCTTCGCTGATCAGCTC
3' ss Score
5.26
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GCTGTTCCAGACTTTCAAGAGACTCGACCACGTAATTATGTGCTTTCTGCCAGCGCATCTGCA
Seq A exon
CTCTGGAGCGAGGAGCTTGATAAA
Seq C2 exon
TCGGAGCAGGAGTTACGGGTCGCTCAGGCAGAGTTTGACAGACAGGCTGAAGTCACCAGACTCCTGCTGGAGGGCATCAGCAGCACACAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000008983-'6-11,'6-9,8-11
Average complexity
S
Mappability confidence:
100%=80=75%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.095 A=0.000 C2=0.085
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(10.0=100)
A:
PF0311413=BAR=FE(2.6=100)
C2:
PF0311413=BAR=FE(10.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCAAGAGACTCGACCACGT
R:
TCTGGTGACTTCAGCCTGTCT
Band lengths:
111-135
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 HsaEX0058019), 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]