GgaEX0021205 @ galGal4
Exon Skipping
Gene
ENSGALG00000014463 | ACTN2
Description
Alpha-actinin-2 [Source:UniProtKB/Swiss-Prot;Acc:P20111]
Coordinates
chr3:36978358-36983929:-
Coord C1 exon
chr3:36983842-36983929
Coord A exon
chr3:36981692-36981770
Coord C2 exon
chr3:36978358-36978439
Length
79 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTCTGTCGTGAAGCTG
3' ss Score
6.24
5' ss Seq
AAGGTCAAC
5' ss Score
2.22
Exon sequences
Seq C1 exon
AGACCTCTGCCAAAGAAGGGCTGCTGCTGTGGTGTCAAAGAAAAACTGCTCCTTACAGAAATGTGAACATTCAGAACTTCCATCTTAG
Seq A exon
CTGGAAAGATGGCCTTGGATTATGTGCACTTATCCACAGACACCGACCTGACCTTATTGACTACTCCAAGCTAAATAAG
Seq C2 exon
GATGACCCCATAGGAAATATCAACCTTGCCATGGAAATTGCTGAGAAACATCTGGATATCCCTAAGATGTTGGATGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSGALG00000014463_MULTIEX1-3/6=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
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
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACCTCTGCCAAAGAAGGG
R:
TCTGCATCCAACATCTTAGGGA
Band lengths:
168-247
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]