HsaEX6071915 @ hg19
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69351492-69357003:-
Coord C1 exon
chr14:69356856-69357003
Coord A exon
chr14:69352142-69352292
Coord C2 exon
chr14:69351492-69351600
Length
151 bp
Sequences
Splice sites
3' ss Seq
GTGGCCCTCTCTCAACCCAGGCA
3' ss Score
7.29
5' ss Seq
CAAGTAGGT
5' ss Score
7.33
Exon sequences
Seq C1 exon
GACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGTTGCTGAATGAGATCCGGAGGCTGGAGCGACTGGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACG
Seq A exon
GCAAAGAGGCCATGCTGCGACAGAAGGACTATGAGACCGCCACCCTCTCGGAGATCAAGGCCCTGCTCAAGAAGCATGAGGCCTTCGAGAGTGACCTGGCTGCCCACCAGGACCGTGTGGAGCAGATTGCCGCCATCGCACAGGAGCTCAA
Seq C2 exon
TGAGCTGGACTATTATGACTCACCCAGTGTCAACGCCCGTTGCCAAAAGATCTGTGACCAGTGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-'20-19,'20-17,21-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.003 A=0.010 C2=0.005
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(18.9=42.0),PF0043516=Spectrin=PU(17.0=36.0)
A:
PF0043516=Spectrin=FE(47.2=100)
C2:
PF0043516=Spectrin=FE(34.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACATCAACAATGCCTGGGG
R:
CAGAGCTTCCCTTCGCTTCTG
Band lengths:
254-405
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)