HsaEX0002152 @ hg38
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236731233-236737214:+
Coord C1 exon
chr1:236731233-236731314
Coord A exon
chr1:236734433-236734518
Coord C2 exon
chr1:236737122-236737214
Length
86 bp
Sequences
Splice sites
3' ss Seq
ACCTTCTTTTCTCCACACAGATT
3' ss Score
11.16
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GATGACCCCATAGGAAATATTAACCTGGCCATGGAAATCGCTGAGAAGCACCTGGATATTCCTAAAATGTTGGATGCTGAAG
Seq A exon
ATTTAGTATACACTGCCAGACCCGATGAAAGAGCCATAATGACTTATGTTTCCTGTTACTATCATGCTTTTGCTGGTGCACAGAAG
Seq C2 exon
GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAGAGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522_MULTIEX1-1/3=C1-C2
Average complexity
ME(1-2[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
Show structural model
Features
Disorder rate (disopred):
C1=0.000 A=0.000 C2=0.065
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(26.0=100)
A:
PF0030726=CH=PD(23.1=82.8)
C2:
PF131021=Phage_int_SAM_5=FE(28.8=100),PF0043516=Spectrin=PU(9.9=35.5)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCATAGGAAATATTAACCTGGCC
R:
CTCACTCGCTAGCCTCTCATA
Band lengths:
170-256
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