DreEX0010947 @ danRer10
Exon Skipping
Gene
ENSDARG00000071090 | actn2b
Description
actinin, alpha 2b [Source:ZFIN;Acc:ZDB-GENE-051127-39]
Coordinates
chr17:20114805-20118427:-
Coord C1 exon
chr17:20118340-20118427
Coord A exon
chr17:20118138-20118216
Coord C2 exon
chr17:20114805-20114886
Length
79 bp
Sequences
Splice sites
3' ss Seq
ATTGTCTCTCTCTGATAAAGCTG
3' ss Score
6.28
5' ss Seq
AAGGTCACA
5' ss Score
1.86
Exon sequences
Seq C1 exon
AAACTTCGGCCAAAGAAGGACTTCTGCTGTGGTGTCAGAGAAAGACTGCCCCGTACCGAAATGTCAATGTTCAAAACTTCCATGTCAG
Seq A exon
CTGGAAGGATGGATTGGCGCTGTGCGCTCTCATCCACAGGCACAGGCCTGACCTCATTGACTACGCCAAGCTCAACAAG
Seq C2 exon
GATGATCCACTGGGTAATTTAAATCTGGCATTTGACATTGCTGAAAAACATCTGGACATCCCCAAAATGCTGGATGCAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000071090_MULTIEX2-5/9=4-7
Average complexity
ME(5-6[100=99])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=0.000 C2=0.000
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:
ACTTCGGCCAAAGAAGGACTT
R:
CCAGCATTTTGGGGATGTCCA
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]