HsaEX6071911 @ hg38
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68893655-68904736:-
Coord C1 exon
chr14:68904655-68904736
Coord A exon
chr14:68902477-68902562
Coord C2 exon
chr14:68893655-68893747
Length
86 bp
Sequences
Splice sites
3' ss Seq
CTCCAGATTTTTCTTGACAGACA
3' ss Score
5.38
5' ss Seq
AAGGTACCC
5' ss Score
9.16
Exon sequences
Seq C1 exon
GATGATCCACTCACAAATCTGAATACGGCTTTTGACGTGGCAGAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAG
Seq A exon
ACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAG
Seq C2 exon
GCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-'56-36,'56-30,59-36
Average complexity
S
Mappability confidence:
93%=100=89%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.004 A=0.026 C2=0.158
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 Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCACTCACAAATCTGAATACGGC
R:
ATCACTGGCCAGCTTCTCGTA
Band lengths:
169-255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains