HsaEX0002147 @ hg38
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68877082-68880108:-
Coord C1 exon
chr14:68879962-68880108
Coord A exon
chr14:68878989-68879069
Coord C2 exon
chr14:68877082-68877240
Length
81 bp
Sequences
Splice sites
3' ss Seq
CTGGCGCACCGCGGCCCCAGGAT
3' ss Score
4.48
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
CACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGG
Seq A exon
GATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAG
Seq C2 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-'106-78,'106-73,110-78
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.076 A=0.191 C2=0.078
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF0003627=EF-hand_1=PU(34.5=20.4)
A:
PF0003627=EF-hand_1=PD(58.6=63.0)
C2:
PF134991=EF-hand_7=PD(33.3=52.8),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCCTCCTTCAACCACTTTG
R:
GCCAGGATCTTGAAGGAAGCC
Band lengths:
175-256
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