HsaEX0002150 @ hg38
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236735635-236739532:+
Coord C1 exon
chr1:236735635-236735720
Coord A exon
chr1:236737122-236737214
Coord C2 exon
chr1:236739302-236739532
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTACCTATTGTGTTTTACAGGCC
3' ss Score
10.93
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
ACATCGTGAACACCCCTAAACCCGATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAGCAG
Seq A exon
GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAGAGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG
Seq C2 exon
CTTTTGGAATGGATTCGTCGCACGATCCCCTGGCTGGAGAACCGGACTCCCGAGAAGACCATGCAAGCCATGCAGAAGAAGCTGGAGGACTTCCGGGATTACCGCCGGAAGCACAAGCCACCCAAGGTGCAGGAGAAATGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGATCAGCAACCGTCCTGCCTTCATGCCCTCCGAGGGCAAGATGGTGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-'16-20,'16-18,21-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.016 A=0.000 C2=0.208
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
PF131021=Phage_int_SAM_5=FE(28.8=100),PF0043516=Spectrin=PU(9.9=35.5)
C2:
PF131021=Phage_int_SAM_5=PD(47.1=63.6),PF0043516=Spectrin=FE(68.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCTCTTGCTTCTACCACGC
R:
TGGCATTTCTCCTGCACCTTG
Band lengths:
183-276
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development