HsaEX0002153 @ hg19
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236894533-236900514:+
Coord C1 exon
chr1:236894533-236894614
Coord A exon
chr1:236898935-236899020
Coord C2 exon
chr1:236900422-236900514
Length
86 bp
Sequences
Splice sites
3' ss Seq
GTTATTTTCTCCCCCTTCAGACA
3' ss Score
8.88
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
GATGACCCCATAGGAAATATTAACCTGGCCATGGAAATCGCTGAGAAGCACCTGGATATTCCTAAAATGTTGGATGCTGAAG
Seq A exon
ACATCGTGAACACCCCTAAACCCGATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAGCAG
Seq C2 exon
GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAGAGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522_MULTIEX1-2/3=C1-C2
Average complexity
ME(1-2[100=100])
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=0.129
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(26.0=100)
A:
PF0030726=CH=PD(23.1=82.8)
C2:
PF0043516=Spectrin=PU(9.9=35.5)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCATAGGAAATATTAACCTGGCC
R:
CTCACTCGCTAGCCTCTCATA
Band lengths:
170-256
Functional annotations
There are 0 annotated functions for this event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)