Special

HsaEX0002210 @ hg19

Exon Skipping

Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor, type IIA [Source:HGNC Symbol;Acc:173]
Coordinates
chr2:148674852-148677913:+
Coord C1 exon
chr2:148674852-148674995
Coord A exon
chr2:148676016-148676161
Coord C2 exon
chr2:148677799-148677913
Length
146 bp
Sequences
Splice sites
3' ss Seq
TTTTTTCCCTCTTTTTTTAGGGT
3' ss Score
13.67
5' ss Seq
CAGGTAGAC
5' ss Score
6.89
Exon sequences
Seq C1 exon
GACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAG
Seq A exon
GGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAG
Seq C2 exon
GGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989_CASSETTE2
Average complexity
S
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=0.051
Domain overlap (PFAM):

C1:
PF0006920=Pkinase=FE(16.3=100)
A:
PF0006920=Pkinase=FE(16.7=100)
C2:
PF0006920=Pkinase=FE(13.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAAACAGTCATGGCAAAATGA
R:
ATGGGTATCGCCTGCAGACTT
Band lengths:
253-399
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