HsaEX6037508 @ hg38
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236757486-236761173:+
Coord C1 exon
chr1:236757486-236757632
Coord A exon
chr1:236759724-236759789
Coord C2 exon
chr1:236761015-236761173
Length
66 bp
Sequences
Splice sites
3' ss Seq
TCCTTTGTTTTTGCCAACAGAGG
3' ss Score
9.11
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
CACATTCGTGTTGGATGGGAGCTGCTGCTGACAACCATCGCCAGAACCATCAATGAGGTGGAGACTCAGATCCTGACGAGAGATGCGAAGGGCATCACCCAGGAGCAGATGAATGAGTTCAGAGCCTCCTTCAACCACTTTGACAGG
Seq A exon
AGGAAGAATGGCCTGATGGATCATGAGGATTTCAGAGCCTGCCTGATTTCCATGGGTTATGACCTG
Seq C2 exon
GGTGAAGCCGAATTTGCCCGCATTATGACCCTGGTAGATCCCAACGGGCAAGGCACCGTCACCTTCCAATCCTTCATCGACTTCATGACTAGAGAGACGGCTGACACCGACACTGCCGAGCAGGTCATCGCCTCCTTCCGGATCCTGGCTTCTGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-'40-41,'40-39,43-41
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=0.000 C2=0.025
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF138331=EF-hand_8=PU(15.4=20.4)
A:
PF138331=EF-hand_8=PU(37.7=90.9)
C2:
PF138331=EF-hand_8=PD(47.7=58.5),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
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:
ACATTCGTGTTGGATGGGAGC
R:
CATAATGCGGGCAAATTCGGC
Band lengths:
173-239
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains