HsaEX6015826 @ hg38
Exon Skipping
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor type 2A [Source:HGNC Symbol;Acc:HGNC:173]
Coordinates
chr2:147844517-147915334:+
Coord C1 exon
chr2:147844517-147845207
Coord A exon
chr2:147896301-147896508
Coord C2 exon
chr2:147915191-147915334
Length
208 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTATTATCTTATAGGTG
3' ss Score
11.44
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
TCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGTCGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGTTGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTCTTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGACGGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAG
Seq A exon
GTGCTATACTTGGTAGATCAGAAACTCAGGAGTGTCTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAG
Seq C2 exon
GACCCAGGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989_MULTIEX1-3/8=1-8
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.025
Domain overlap (PFAM):
C1:
NO
A:
PF0106418=Activin_recp=PU(65.9=85.7)
C2:
PF0006920=Pkinase=PU(11.1=66.7)
Main Skipping Isoform:
ENST00000404590fB8642
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCCCGTGGTGCATTTTATT
R:
TAATGGAGAAGGTGGGGGTGG
Band lengths:
308-516
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains