HsaEX6071910 @ hg38
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68902477-68909396:-
Coord C1 exon
chr14:68909318-68909396
Coord A exon
chr14:68904655-68904736
Coord C2 exon
chr14:68902477-68902562
Length
82 bp
Sequences
Splice sites
3' ss Seq
TCCTCCTTTTCTCCCTCTAGGAT
3' ss Score
13.82
5' ss Seq
AAGGTGAAA
5' ss Score
4.51
Exon sequences
Seq C1 exon
CTGGAAGGATGGCCTCGGCTTCTGTGCTTTGATCCACCGACACCGGCCCGAGCTGATTGACTACGGGAAGCTGCGGAAG
Seq A exon
GATGATCCACTCACAAATCTGAATACGGCTTTTGACGTGGCAGAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAG
Seq C2 exon
ACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-'51-30,'51-27,56-30
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=0.004 C2=0.026
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(25.0=100)
A:
PF0030726=CH=FE(26.0=100)
C2:
PF0030726=CH=PD(23.1=82.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGGATGGCCTCGGCTTC
R:
TGGGCTCCAGAGAAGGCG
Band lengths:
159-241
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains