HsaEX1002549 @ hg38
Exon Skipping
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66555286-66557225:+
Coord C1 exon
chr11:66555286-66555367
Coord A exon
chr11:66556145-66556230
Coord C2 exon
chr11:66557133-66557225
Length
86 bp
Sequences
Splice sites
3' ss Seq
ACCGTGCTGTCCTCCCCTAGACA
3' ss Score
10.97
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GATGACCCCATCGGAAACCTGAACACTGCCTTTGAGGTGGCAGAGAAATACCTGGACATCCCCAAGATGTTGGATGCAGAAG
Seq A exon
ACATTGTGAACACCCCAAAGCCGGATGAGAAGGCCATCATGACCTATGTGTCCTGCTTCTACCATGCCTTTGCCGGGGCTGAGCAG
Seq C2 exon
GCAGAGACAGCTGCCAACAGGATCTGCAAGGTGCTGGCAGTGAACCAGGAAAACGAGAAGCTGATGGAGGAGTATGAGAAGCTTGCCAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746-'10-10,'10-9,11-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=0.046 C2=0.118
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(26.0=100)
A:
PF0030726=CH=PD(23.1=82.8)
C2:
PF0043516=Spectrin=PU(9.9=35.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGACCCCATCGGAAACCTGA
R:
GGCAAGCTTCTCATACTCCTCC
Band lengths:
168-254
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains