HsaEX6037509 @ hg38
Exon Skipping
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236755019-236759789:+
Coord C1 exon
chr1:236755019-236755198
Coord A exon
chr1:236757486-236757632
Coord C2 exon
chr1:236759724-236759789
Length
147 bp
Sequences
Splice sites
3' ss Seq
TTCCCCTTTTCCCTCAATAGCAC
3' ss Score
9.35
5' ss Seq
AGGGTACCA
5' ss Score
2.81
Exon sequences
Seq C1 exon
GAGATTGCCCGGAGCTCCATCCAGATCACAGGAGCCCTGGAAGACCAGATGAACCAGCTGAAGCAGTATGAGCACAACATCATCAACTATAAGAACAACATCGACAAGCTGGAGGGAGACCATCAGCTCATCCAGGAGGCCCTTGTCTTTGACAACAAGCACACGAACTACACGATGGAG
Seq A exon
CACATTCGTGTTGGATGGGAGCTGCTGCTGACAACCATCGCCAGAACCATCAATGAGGTGGAGACTCAGATCCTGACGAGAGATGCGAAGGGCATCACCCAGGAGCAGATGAATGAGTTCAGAGCCTCCTTCAACCACTTTGACAGG
Seq C2 exon
AGGAAGAATGGCCTGATGGATCATGAGGATTTCAGAGCCTGCCTGATTTCCATGGGTTATGACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-'38-39,'38-38,40-39
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.422 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(56.7=100)
A:
PF0043516=Spectrin=PD(20.2=42.9),PF138331=EF-hand_8=PU(15.4=20.4)
C2:
PF138331=EF-hand_8=PU(37.7=90.9)
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:
GAGATTGCCCGGAGCTCCATC
R:
TCATAACCCATGGAAATCAGGCA
Band lengths:
242-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains