HsaEX0002209 @ hg38
Exon Skipping
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor type 2A [Source:HGNC Symbol;Acc:HGNC:173]
Coordinates
chr2:147896301-147899567:+
Coord C1 exon
chr2:147896301-147896508
Coord A exon
chr2:147898241-147898330
Coord C2 exon
chr2:147899458-147899567
Length
90 bp
Sequences
Splice sites
3' ss Seq
ATTTGATTGAAAACAAATAGGAT
3' ss Score
1.48
5' ss Seq
ATGGTGAAA
5' ss Score
0.56
Exon sequences
Seq C1 exon
GTGCTATACTTGGTAGATCAGAAACTCAGGAGTGTCTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAG
Seq A exon
GATAGTAAGAGAAGTAAGAGGAAAAGAAGATTCAAGAATTGTCAAAGTGTGGAAGAAAAGAAAATGATAAAAGAAGAATGAAATTGAATG
Seq C2 exon
GACTGATTGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACACAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989_MULTIEX1-4/8=3-5
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.024
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=PU(65.9=85.7)
A:
NA
C2:
PF0106418=Activin_recp=PD(33.0=78.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACAAAGATAAACGGCGGCA
R:
ACACATATTGCCCTCACAGCA
Band lengths:
175-265
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