HsaEX0002211 @ hg38
Exon Skipping
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor type 2A [Source:HGNC Symbol;Acc:HGNC:173]
Coordinates
chr2:147920230-147926161:+
Coord C1 exon
chr2:147920230-147920344
Coord A exon
chr2:147922973-147923111
Coord C2 exon
chr2:147926031-147926161
Length
139 bp
Sequences
Splice sites
3' ss Seq
GCTTTTAACATCTTTTTCAGGTT
3' ss Score
9.59
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
Exon sequences
Seq C1 exon
GGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAG
Seq A exon
GTTGGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATG
Seq C2 exon
GACCTGTAGATGAATACATGTTGCCATTTGAGGAGGAAATTGGCCAGCATCCATCTCTTGAAGACATGCAGGAAGTTGTTGTGCATAAAAAAAAGAGGCCTGTTTTAAGAGATTATTGGCAGAAACATGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989_MULTIEX2-4/4=3-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.051 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(13.2=100)
A:
PF0006920=Pkinase=FE(16.0=100)
C2:
PF0006920=Pkinase=FE(14.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACATCAAAAGTAAAAATGTGCTGT
R:
AGCATGTTTCTGCCAATAATCTCT
Band lengths:
246-385
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