HsaEX0002205 @ hg38
Exon Skipping
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51985192-51991993:+
Coord C1 exon
chr12:51985192-51985348
Coord A exon
chr12:51986818-51986942
Coord C2 exon
chr12:51991863-51991993
Length
125 bp
Sequences
Splice sites
3' ss Seq
TGTTTGTTTTGCTATTGCAGATA
3' ss Score
9.67
5' ss Seq
GAGGTACCT
5' ss Score
7.63
Exon sequences
Seq C1 exon
GGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTCTGGTGAAGAAAAATGGCATGTGTGCCATAGCAGACCTGGGCCTGGCTGTCCGTCATGATGCAGTCACTGACACCATTGACATTGCCCCGAATCAGAGGGTGGGGACCAAACG
Seq A exon
ATACATGGCCCCTGAAGTACTTGATGAAACCATTAATATGAAACACTTTGACTCCTTTAAATGTGCTGATATTTATGCCCTCGGGCTTGTATATTGGGAGATTGCTCGAAGATGCAATTCTGGAG
Seq C2 exon
GAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503_MULTIEX1-8/10=6-9
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=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(18.1=100)
A:
PF0006920=Pkinase=FE(14.6=100)
C2:
PF0006920=Pkinase=PD(18.3=84.2)
Main Skipping Isoform:
ENST00000541224fB8639
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTGGAATTGCTCATCGAG
R:
GGACGCAGCTTCTGATCACAT
Band lengths:
254-379
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