HsaEX6016110 @ hg38
Exon Skipping
Gene
ENSG00000115170 | ACVR1
Description
activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171]
Coordinates
chr2:157770368-157778342:-
Coord C1 exon
chr2:157778131-157778342
Coord A exon
chr2:157774088-157774187
Coord C2 exon
chr2:157770368-157770514
Length
100 bp
Sequences
Splice sites
3' ss Seq
CCCCTTGTCTTAAACCACAGGAT
3' ss Score
8.92
5' ss Seq
TCGGTAATT
5' ss Score
7.06
Exon sequences
Seq C1 exon
GAAAATCCTTCCCTGGAACACAGAATTTCCACTTGGAGGTTGGCCTCATTATTCTCTCTGTAGTGTTCGCAGTATGTCTTTTAGCCTGCCTGCTGGGAGTTGCTCTCCGAAAATTTAAAAGGCGCAACCAAGAACGCCTCAATCCCCGAGACGTGGAGTATGGCACTATCGAAGGGCTCATCACCACCAATGTTGGAGACAGCACTTTAGCA
Seq A exon
GATTTATTGGATCATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCG
Seq C2 exon
GGAAAGGCAGGTATGGTGAGGTGTGGAGGGGCAGCTGGCAAGGGGAGAATGTTGCCGTGAAGATCTTCTCCTCCCGTGATGAGAAGTCATGGTTCAGGGAAACGGAATTGTACAACACTGTGATGCTGAGGCATGAAAATATCTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115170-'32-18,'32-17,35-18
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:
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=FE(17.0=100)

Main Skipping Isoform:
NA
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:
ATTTCCACTTGGAGGTTGGCC
R:
TCTTCACGGCAACATTCTCCC
Band lengths:
251-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains