HsaEX0002157 @ hg38
Exon Skipping
Gene
ENSG00000130402 | ACTN4
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38726957-38728381:+
Coord C1 exon
chr19:38726957-38727103
Coord A exon
chr19:38727946-38728026
Coord C2 exon
chr19:38728316-38728381
Length
81 bp
Sequences
Splice sites
3' ss Seq
CCTTCGGATGGCCCCGGCAGGAT
3' ss Score
3.65
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
CACATCCGCGTGGGCTGGGAGCAGCTGCTCACCACCATTGCCCGCACCATCAACGAGGTGGAGAACCAGATCCTCACCCGCGACGCCAAGGGCATCAGCCAGGAGCAGATGCAGGAGTTCCGGGCGTCCTTCAACCACTTCGACAAG
Seq A exon
GATCATGGCGGGGCGCTGGGGCCCGAGGAGTTCAAGGCCTGCCTCATCAGCCTGGGCTACGACGTGGAGAACGACCGGCAG
Seq C2 exon
AAGCAGACAGGCAGCATGGACTCCGATGACTTCAGGGCTCTGCTTATCTCCACAGGATACAGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-'93-73,'93-71,96-73
Average complexity
S
Mappability confidence:
100%=100=80%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.020 A=0.062 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF134991=EF-hand_7=PU(31.3=53.1)
A:
PF134991=EF-hand_7=FE(31.3=100)
C2:
PF134991=EF-hand_7=FE(22.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGCTGCTCACCACCATT
R:
AGAGCCCTGAAGTCATCGGAG
Band lengths:
168-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development