HsaEX0002146 @ hg38
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68893655-68902562:-
Coord C1 exon
chr14:68902477-68902562
Coord A exon
chr14:68900862-68900946
Coord C2 exon
chr14:68893655-68893747
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_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (disopred):
C1=0.026 A=NA C2=0.158
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NA
C2:
PF0043516=Spectrin=PU(9.9=35.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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