HsaEX0058019 @ hg19
Exon Skipping
Gene
ENSG00000097033 | SH3GLB1
Description
SH3-domain GRB2-like endophilin B1 [Source:HGNC Symbol;Acc:10833]
Coordinates
chr1:87189996-87200374:+
Coord C1 exon
chr1:87189996-87190088
Coord A exon
chr1:87194086-87194124
Coord C2 exon
chr1:87200285-87200374
Length
39 bp
Sequences
Splice sites
3' ss Seq
TCTCTTACTATGCACTTAAGCAA
3' ss Score
0.36
5' ss Seq
ATGGTAAAT
5' ss Score
6.41
Exon sequences
Seq C1 exon
AAAGAAAGGAAACTATTGCAAAATAAGAGACTGGATTTGGATGCTGCAAAAACGAGACTAAAAAAGGCAAAAGCTGCAGAAACTAGAAATTCA
Seq A exon
CAACTAAACTCAGCTCGCCTTGAAGGAGATAACATTATG
Seq C2 exon
TCTGAACAGGAATTAAGAATAACTCAAAGTGAATTTGATCGTCAAGCAGAGATTACCAGACTTCTGCTAGAGGGAATCAGCAGTACACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000097033-'5-9,'5-5,6-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.226 A=0.179 C2=0.156
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(12.2=100)
A:
PF0311413=BAR=FE(4.5=100)
C2:
PF0311413=BAR=FE(11.8=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACTGGATTTGGATGCTGCA
R:
GTCTGGTAATCTCTGCTTGACGA
Band lengths:
127-166
Functional annotations
There are 2 annotated functions for this event
PMID: 24523556
This event
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
This event
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]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)