HsaEX0002213 @ hg38
Exon Skipping
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor type 2A [Source:HGNC Symbol;Acc:HGNC:173]
Coordinates
chr2:147899744-147915334:+
Coord C1 exon
chr2:147899744-147899898
Coord A exon
chr2:147911537-147911560
Coord C2 exon
chr2:147915191-147915334
Length
24 bp
Sequences
Splice sites
3' ss Seq
CTGTGTTTTTTCTTCACAAGCAC
3' ss Score
4.99
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
CCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAA
Seq A exon
CACGCCTTTCATATAATGATAGAG
Seq C2 exon
GACCCAGGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989_MULTIEX1-7/8=6-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.077 A=0.000 C2=0.025
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0006920=Pkinase=PU(11.1=66.7)
Main Inclusion Isoform:
ENST00000404590fB148
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGGGGATTGTCATTTGTGCA
R:
TAATGGAGAAGGTGGGGGTGG
Band lengths:
108-132
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