HsaEX0002151 @ hg38
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236725933-236731314:+
Coord C1 exon
chr1:236725933-236726020
Coord A exon
chr1:236727678-236727756
Coord C2 exon
chr1:236731233-236731314
Length
79 bp
Sequences
Splice sites
3' ss Seq
TCTTCTCGACGGCTGTGAAGCTG
3' ss Score
0.58
5' ss Seq
AAGGTTATT
5' ss Score
4.15
Exon sequences
Seq C1 exon
AAACATCTGCCAAAGAAGGTCTGCTGCTTTGGTGTCAGAGGAAAACTGCTCCTTATAGAAATGTGAACATTCAGAACTTCCATACTAG
Seq A exon
CTGGAAAGATGGCCTTGGACTCTGTGCCCTCATCCACCGACACCGGCCTGACCTCATTGACTACTCAAAGCTTAACAAG
Seq C2 exon
GATGACCCCATAGGAAATATTAACCTGGCCATGGAAATCGCTGAGAAGCACCTGGATATTCCTAAAATGTTGGATGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
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 Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCTGCCAAAGAAGGTCTGCT
R:
CTTCAGCATCCAACATTTTAGGA
Band lengths:
167-246
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]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development