Special

HsaEX0002212 @ hg38

Exon Skipping

Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor type 2A [Source:HGNC Symbol;Acc:HGNC:173]
Coordinates
chr2:147899458-147915334:+
Coord C1 exon
chr2:147899458-147899567
Coord A exon
chr2:147899744-147899898
Coord C2 exon
chr2:147915191-147915334
Length
155 bp
Sequences
Splice sites
3' ss Seq
TTTCCCCCCCTTTTCCACAGCCA
3' ss Score
10.94
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
Exon sequences
Seq C1 exon
GACTGATTGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACACAGC
Seq A exon
CCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAA
Seq C2 exon
GACCCAGGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989_MULTIEX1-6/8=5-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.024 A=0.077 C2=0.025
Domain overlap (PFAM):

C1:
PF0106418=Activin_recp=PD(33.0=78.9)
A:
NO
C2:
PF0006920=Pkinase=PU(11.1=66.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
AAGACAGCCCTGAAGTATATTTTTGT
R:
CTGTATTGGAAATATTTTGACAGCCA
Band lengths:
234-389
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development