HsaEX6071912 @ hg38
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68892053-68902562:-
Coord C1 exon
chr14:68902477-68902562
Coord A exon
chr14:68893655-68893747
Coord C2 exon
chr14:68892053-68892283
Length
93 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTGTCTTGTTGCCAGGCG
3' ss Score
8.28
5' ss Seq
GATGTGGGT
5' ss Score
2.02
Exon sequences
Seq C1 exon
ACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAG
Seq A exon
GCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGAT
Seq C2 exon
CTGTTGGAGTGGATCCGCCGCACAATCCCGTGGCTGGAGAACCGGGTGCCCGAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCCTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTGCCTTCATGCCCTCTGAGGGCAGGATGGTCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110_MULTIEX3-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.004 A=0.132 C2=0.026
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 Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCTACCACGCCTTCTCTGGAG
R:
TGATCTCCAGCTGGCACTTCT
Band lengths:
183-276
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains