RnoEX0006354 @ rn6
Exon Skipping
Gene
ENSRNOG00000017833 | Actn2
Description
actinin alpha 2 [Source:RGD Symbol;Acc:1308097]
Coordinates
chr17:66334273-66339709:-
Coord C1 exon
chr17:66339622-66339709
Coord A exon
chr17:66337672-66337750
Coord C2 exon
chr17:66334273-66334354
Length
79 bp
Sequences
Splice sites
3' ss Seq
TTCTCCTCTGTGTTGCGAAGCTG
3' ss Score
4.85
5' ss Seq
AAGGTCATT
5' ss Score
4.32
Exon sequences
Seq C1 exon
AAACATCTGCCAAAGAGGGCCTGCTGCTATGGTGTCAGAGGAAGACAGCACCATACCGAAATGTGAACATCCAGAACTTCCACACCAG
Seq A exon
CTGGAAAGATGGCCTTGGACTCTGTGCCCTCATCCACAGACACCGGCCTGACCTCATCGACTACTCAAAGCTTAACAAG
Seq C2 exon
GATGACCCCATAGGAAACATTAACCTGGCCATGGAAATAGCAGAGAAGCACTTGGATATCCCTAAAATGTTGGATGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSRNOG00000017833_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=NA A=NA C2=NA
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(24.0=83.3)
A:
PF0030726=CH=FE(25.0=100)
C2:
PF0030726=CH=FE(26.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAAGAGGGCCTGCTGCTATG
R:
TTCAGCATCCAACATTTTAGGGA
Band lengths:
159-238
Functional annotations
There are 1 annotated functions for this event
PMID: 34816743
CRISPR/Cas9-mediated deletion of exon 6 from ACTN2 in hESCs, as well as forced expression of full-length ACTN2 in RBM24-/- hESCs, corroborated that inclusion of exon 6 is critical for sarcomere assembly.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]