DreEX0001987 @ danRer10
Exon Skipping
Gene
ENSDARG00000102312 | CABZ01063402.1
Description
NA
Coordinates
chr24:40706396-40724114:+
Coord C1 exon
chr24:40706396-40706524
Coord A exon
chr24:40717569-40717660
Coord C2 exon
chr24:40723866-40724114
Length
92 bp
Sequences
Splice sites
3' ss Seq
ACTGTAATGTGATTCTGCAGGTT
3' ss Score
8.64
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTACACTTTCACTGGCATTTACACGTTCGAGTCGTTGATAAAGATCCTGGCGCGGGGTTTCTGCATCGGGCCCTTCACATTTCTGAGGGACCCCTGGAACTGGCTGGATTTCAGTGTGATTCTGATGGC
Seq A exon
GTTTCTAACTGAGTTTATAAAAGTAGGCAATCTGCAAGCTCTTCGAACGTTCAGGGTCCTCCGCGCTTTGAAAACTATTTCCGTAATTCCAG
Seq C2 exon
GCCTGAAGACCATCGTTGGCGCTCTGATCCAGTCGGTGAAGAAGCTGGCGGACGTGATGATCCTCACTGTTTTCTGCCTCAGCGTGTTCGCTCTGATCGGCCTGCAGCTCTTCATGGGGAACCTGCGGCAGAAATGCGTCCGCAGCGCCTCACAATGTCTCAACACCACCTTGCCGACATACAACAACAGCACTTTCATATGCAATAACAGAAGCTGGGCCTCGCTGGAGGAATTCTTCAATAATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000102312_MULTIEX1-1/2=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(16.5=100)
A:
PF0052026=Ion_trans=FE(39.7=100)
C2:
PF0052026=Ion_trans=FE(31.9=100)
Main Inclusion Isoform:
ENSDART00000167854fB189
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGATAAAGATCCTGGCGCGG
R:
AACACGCTGAGGCAGAAAACA
Band lengths:
183-275
Functional annotations
There are 1 annotated functions for this event
PMID: 25378553
Mice expressing only the ?adult? NaV1.2 isoform (containing HsaEX0056545) were generated (NaV1.2adult), and the firing properties of pyramidal cortical neurons, as well as seizure susceptibility, were compared between the NaV1.2adult and wild-type (WT) mice at postnatal day 3 (P3), when the ?neonatal? isoform (containing HsaEX0056544) represents 65% of the WT NaV1.2.There were significant increases in action potential firing in NaV1.2adult neurons and in seizure susceptibility of NaV1.2adult mice. At postnatal day 15 (P15), when 17% of the WT NaV1.2 is ?neonatal?, the firing properties of NaV1.2adult and WT neurons converged. However, inhibitory postsynaptic currents in NaV1.2adult neurons were larger and the expression level of Scn2a mRNA was 24% lower compared with the WT. The enhanced seizure susceptibility of the NaV1.2adult mice persisted into adult age. The adult NaV1.2adult mice also exhibited greater risk-taking behaviour.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]