HsaEX0002219 @ hg38
Exon Skipping
Gene
ENSG00000139567 | ACVRL1
Description
activin A receptor like type 1 [Source:HGNC Symbol;Acc:HGNC:175]
Coordinates
chr12:51913559-51914585:+
Coord C1 exon
chr12:51913559-51913770
Coord A exon
chr12:51913974-51914073
Coord C2 exon
chr12:51914439-51914585
Length
100 bp
Sequences
Splice sites
3' ss Seq
TGGCCTCTCCGTACCCCCAGGAC
3' ss Score
10.6
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
CCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGG
Seq A exon
GACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGG
Seq C2 exon
GAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139567_MULTIEX1-3/4=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.155 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF085157=TGF_beta_GS=PU(10.3=4.2)
A:
PF085157=TGF_beta_GS=PD(82.8=70.6),PF0006920=Pkinase=PU(2.4=20.6)
C2:
PF0006920=Pkinase=PD(87.0=95.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGGCCCTGATCCTGG
R:
AGGAGAAGATCTTGACGGCCA
Band lengths:
245-345
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