HsaEX0002146 @ hg19
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69360372-69369279:-
Coord C1 exon
chr14:69369194-69369279
Coord A exon
chr14:69367579-69367663
Coord C2 exon
chr14:69360372-69360464
Length
85 bp
Sequences
Splice sites
3' ss Seq
TCTTCTCCTTCTCTGTGCAGATG
3' ss Score
12.31
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAG
Seq A exon
ATGTGTAGGCACGCTAAGGCCGGATGGGAAGGCCGTGTGACCTAATGTTTCATGTCACGGCCACGCCTTCTCGGGTGTGCAGAAG
Seq C2 exon
GCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (disopred):
C1=0.030 A=1.000 C2=0.172
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NO
C2:
PF0043516=Spectrin=PU(9.9=35.5)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CATCGTTGGAACTGCCCGAC
R:
TGGCCAGCTTCTCGTAGTCTT
Band lengths:
173-258
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)