HsaEX6094928 @ hg38
Exon Skipping
Gene
ENSG00000130402 | ACTN4
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38704934-38708195:+
Coord C1 exon
chr19:38704934-38705020
Coord A exon
chr19:38706044-38706131
Coord C2 exon
chr19:38708117-38708195
Length
88 bp
Sequences
Splice sites
3' ss Seq
TGTCTTTGTGTGTTTTGCAGAGA
3' ss Score
11.28
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
AGATTGTGGACGGCAACGCAAAGATGACCCTGGGAATGATCTGGACCATCATCCTTAGGTTCGCCATCCAGGACATCTCCGTGGAAG
Seq A exon
AGACCTCGGCCAAGGAAGGGCTCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAG
Seq C2 exon
CTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCTGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-'34-21,'34-18,35-21=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(20.6=70.0)
A:
PF0030726=CH=PU(24.0=83.3)
C2:
PF0030726=CH=FE(25.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAACGCAAAGATGACCCTGGG
R:
CTTCCTCAGCTTGTCATACTCA
Band lengths:
153-241
Functional annotations
There are 3 annotated functions for this event
PMID: 16980305
This study isolated a novel splice variant of alpha-actinin 4 (skipping exons 3-12; ENST00000424234)... [Show more]
PMID: 22908231
ACTN4(Iso) overexpression increases transcriptional activity of the VDRE and ERE promoters. Both ACT... [Show more]
PMID: 27998979
Overexpression of either ATN4(WT) or ACTN4(Iso) increases GRE reporter activity. Disruption of the L... [Show more]
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains