HsaEX7006116 @ hg38
Exon Skipping
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66556145-66557929:+
Coord C1 exon
chr11:66556145-66556230
Coord A exon
chr11:66557133-66557225
Coord C2 exon
chr11:66557699-66557929
Length
93 bp
Sequences
Splice sites
3' ss Seq
TCTGCCCACTCCCCCCACAGGCA
3' ss Score
12.11
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
ACATTGTGAACACCCCAAAGCCGGATGAGAAGGCCATCATGACCTATGTGTCCTGCTTCTACCATGCCTTTGCCGGGGCTGAGCAG
Seq A exon
GCAGAGACAGCTGCCAACAGGATCTGCAAGGTGCTGGCAGTGAACCAGGAAAACGAGAAGCTGATGGAGGAGTATGAGAAGCTTGCCAGTGAG
Seq C2 exon
CTGCTGGAGTGGATCCGCCGCACTGTCCCATGGCTGGAGAACCGTGTGGGTGAGCCCAGCATGAGTGCCATGCAGCGCAAACTAGAGGACTTTCGGGACTACCGGCGTCTGCACAAGCCGCCCCGCATTCAGGAAAAGTGCCAGCTGGAGATCAACTTCAACACACTGCAGACCAAGTTGCGGCTCAGCCACCGGCCTGCCTTCATGCCCTCCGAGGGCAAGCTGGTCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746-'11-11,'11-10,12-11=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
PF0043516=Spectrin=PU(9.9=35.5)
C2:
PF0043516=Spectrin=FE(68.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTCTACCATGCCTTTGCC
R:
CCAGCTGGCACTTTTCCTGAA
Band lengths:
181-274
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains