MmuEX1022361 @ mm10
Exon Skipping
Gene
ENSMUSG00000029249 | Rest
Description
RE1-silencing transcription factor [Source:MGI Symbol;Acc:MGI:104897]
Coordinates
chr5:77275234-77286432:+
Coord C1 exon
chr5:77275234-77275317
Coord A exon
chr5:77279899-77279914
Coord C2 exon
chr5:77280703-77286432
Length
16 bp
Sequences
Splice sites
3' ss Seq
CAATTGGTAATATTTACTAGAGT
3' ss Score
1.56
5' ss Seq
TGGGTATGT
5' ss Score
7.43
Exon sequences
Seq C1 exon
GAGAACGCCCGTATAAATGTGAACTTTGTCCTTACTCAAGCTCTCAGAAGACTCATCTAACGCGACACATGCGGACTCATTCAG
Seq A exon
AGTGTGATCTAGCTGG
Seq C2 exon
GTGAGAAGCCATTTAAATGTGATCAGTGCAATTATGTGGCCTCTAATCAGCATGAAGTGACCCGACATGCAAGACAGGTTCACAACGGGCCTAAACCTCTTAATTGCCCGCACTGTGACTACAAAACAGCAGATAGAAGCAACTTCAAAAAGCACGTGGAGCTGCATGTTAACCCACGGCAGTTCAACTGCCCCGTGTGTGACTACGCGGCTTCTAAGAAGTGTAATCTACAATACCATTTCAAATCTAAGCATCCCACCTGTCCCAGCAAAACAATGGATGTCTCCAAAGTGAAGCTAAAGAAAACCAAAAAGAGAGAGGCTGACCTGCTTAATAACGCCGTCAGCAACGAGAAGATGGAGAATGAGCAAACAAAAACAAAGGGGGATGTGTCTGGGAAGAAGAACGAGAAACCTGTAAAAGCTGTGGGAAAAGATGCTTCAAAAGAGAAGAAGCCTGGTAGCAGTGTCTCAGTGGTCCAGGTAACTACCAGGACTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000029249_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.092 A=0.000 C2=0.860
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)
A:
NO
C2:
PF134651=zf-H2C2_2=PD(57.7=2.0),PF134651=zf-H2C2_2=WD(100=3.5),PF134651=zf-H2C2_2=WD(100=3.4),PF121713=zf-C2H2_jaz=WD(100=2.9)
Main Inclusion Isoform:
ENSMUST00000080359fB15840
Other Inclusion Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGACACATGCGGACTCATTCA
R:
TGAACCTGTCTTGCATGTCGG
Band lengths:
104-120
Functional annotations
There are 4 annotated functions for this event
PMID: 10490617
This event
Inclusion form has a PTC. It lacks DNA-binding capability, acts as a dominant negative protein which sequesters full-length REST in nonfunctional hetero-oligomers.
PMID: 21884984
This event
Cross regulation with nSR100, which enhances the inclusion of the alternative exon in mouse
PMID: 30995482
This event
Splicing alterations in the Srrm3/Srrm4 DKO mice prevent inactivation of the gene repressor REST, which maintains immature excitatory GABAergic neurotransmission by repressing K-Cl cotransporter 2. Low REST activity is also due to a (likely indirect) reduction in REST expression levels.
PMID: 29961578
The absence of this exon in transcripts is responsible for one form of dominant hereditary deafness in human patients and mouse model systems. Inclusion of this exon in the REST transcript provides post-translational inactivation of the REST protein, which is critical for the survival of mechanosensory hair cells in the ear. This exon is essential for the derepression of many neuronal genes in hair cells; without this exon deafness occurs.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Ribosome-engaged transcriptomes of neuronal types
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types