HsaEX6037512 @ hg19
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236912424-236917381:+
Coord C1 exon
chr1:236912424-236912564
Coord A exon
chr1:236914770-236914952
Coord C2 exon
chr1:236917247-236917381
Length
183 bp
Sequences
Splice sites
3' ss Seq
CACTTGTGTCTCGGGTGTAGAGT
3' ss Score
6.66
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
AGAATGGAGAAATTGCTAGAAACCATTGATCAGCTTCACCTGGAGTTTGCCAAGAGGGCTGCTCCTTTCAACAATTGGATGGAGGGCGCTATGGAGGATCTGCAAGATATGTTCATTGTCCACAGCATTGAGGAGATCCAG
Seq A exon
AGTCTGATCACTGCGCATGAGCAGTTCAAGGCCACGCTGCCCGAGGCGGACGGAGAGCGGCAGTCCATCATGGCCATCCAGAACGAGGTGGAGAAGGTGATTCAGAGCTACAACATCAGAATCAGCTCAAGCAACCCGTACAGCACTGTCACCATGGATGAGCTCCGGACCAAGTGGGACAAG
Seq C2 exon
GTGAAGCAACTCGTGCCCATCCGCGATCAATCCCTGCAGGAGGAGCTGGCTCGCCAGCATGCTAACGAGCGTCTGAGGCGCCAGTTTGCTGCCCAAGCCAATGCCATTGGGCCCTGGATCCAGAACAAGATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-'17-19,'17-17,18-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.066 C2=0.044
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(0.1=0.0),PF050648=Nsp1_C=FE(38.3=100),PF0043516=Spectrin=PU(32.1=76.6)
A:
PF050648=Nsp1_C=PD(47.5=93.4),PF0043516=Spectrin=FE(53.6=100)
C2:
PF0043516=Spectrin=PD(11.6=28.9),PF0043516=Spectrin=PU(20.2=46.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGCTTCACCTGGAGTTTGC
R:
TCTTGTTCTGGATCCAGGGCC
Band lengths:
242-425
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)