HsaEX0002218 @ hg38
Exon Skipping
Gene
ENSG00000139567 | ACVRL1
Description
activin A receptor like type 1 [Source:HGNC Symbol;Acc:HGNC:175]
Coordinates
chr12:51913099-51914585:+
Coord C1 exon
chr12:51913099-51913350
Coord A exon
chr12:51913559-51913770
Coord C2 exon
chr12:51914439-51914585
Length
212 bp
Sequences
Splice sites
3' ss Seq
TCAGTGTCCCCCTCCCTCAGCCA
3' ss Score
6.88
5' ss Seq
GGGGTATGG
5' ss Score
5.84
Exon sequences
Seq C1 exon
GAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGG
Seq A exon
CCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGG
Seq C2 exon
GAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139567_MULTIEX1-2/4=1-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.014 A=0.155 C2=0.000
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=WD(100=84.7),PF0006920=Pkinase=PU(10.9=5.9)
A:
PF085157=TGF_beta_GS=PU(10.3=4.2)
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:
TGTGAGAGCCCACATTGCAAG
R:
AGGACTGTTCATCCCTCGAGG
Band lengths:
298-510
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