HsaEX6037512 @ hg38
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236749124-236754081:+
Coord C1 exon
chr1:236749124-236749264
Coord A exon
chr1:236751470-236751652
Coord C2 exon
chr1:236753947-236754081
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-'33-32,'33-29,35-32
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=0.238 C2=0.222
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(0.1=0.0),PF0043516=Spectrin=PU(32.1=76.6)
A:
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