Special

HsaEX6055137 @ hg19

Exon Skipping

Gene
ENSG00000114739 | ACVR2B
Description
activin A receptor, type IIB [Source:HGNC Symbol;Acc:174]
Coordinates
chr3:38518778-38519783:+
Coord C1 exon
chr3:38518778-38518985
Coord A exon
chr3:38519352-38519461
Coord C2 exon
chr3:38519632-38519783
Length
110 bp
Sequences
Splice sites
3' ss Seq
GGAAAATTCTGTGCCTCCAGGCA
3' ss Score
4.69
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GCTCTGGGCGTGGGGAGGCTGAGACACGGGAGTGCATCTACTACAACGCCAACTGGGAGCTGGAGCGCACCAACCAGAGCGGCCTGGAGCGCTGCGAAGGCGAGCAGGACAAGCGGCTGCACTGCTACGCCTCCTGGCGCAACAGCTCTGGCACCATCGAGCTCGTGAAGAAGGGCTGCTGGCTAGATGACTTCAACTGCTACGATAG
Seq A exon
GCAGGAGTGTGTGGCCACTGAGGAGAACCCCCAGGTGTACTTCTGCTGCTGTGAAGGCAACTTCTGCAACGAACGCTTCACTCATTTGCCAGAGGCTGGGGGCCCGGAAG
Seq C2 exon
TCACGTACGAGCCACCCCCGACAGCCCCCACCCTGCTCACGGTGCTGGCCTACTCACTGCTGCCCATCGGGGGCCTTTCCCTCATCGTCCTGCTGGCCTTTTGGATGTACCGGCATCGCAAGCCCCCCTACGGTCATGTGGACATCCATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114739-'1-3,'1-2,2-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.132 C2=0.196
Domain overlap (PFAM):

C1:
PF0106418=Activin_recp=PU(65.9=85.7)
A:
PF0106418=Activin_recp=PD(33.0=78.9)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGTGCATCTACTACAACGCC
R:
CGATGGGCAGCAGTGAGTAG
Band lengths:
249-359
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains