HsaEX6016109 @ hg38
Exon Skipping
Gene
ENSG00000115170 | ACVR1
Description
activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171]
Coordinates
chr2:157774088-157780600:-
Coord C1 exon
chr2:157780337-157780600
Coord A exon
chr2:157778131-157778342
Coord C2 exon
chr2:157774088-157774187
Length
212 bp
Sequences
Splice sites
3' ss Seq
CCTTTTCCCTCCAACTCCAGGAA
3' ss Score
10.5
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
Exon sequences
Seq C1 exon
ATGAGAAGCCCAAGGTCAACCCCAAACTCTACATGTGTGTGTGTGAAGGTCTCTCCTGCGGTAATGAGGACCACTGTGAAGGCCAGCAGTGCTTTTCCTCACTGAGCATCAACGATGGCTTCCACGTCTACCAGAAAGGCTGCTTCCAGGTTTATGAGCAGGGAAAGATGACCTGTAAGACCCCGCCGTCCCCTGGCCAAGCCGTGGAGTGCTGCCAAGGGGACTGGTGTAACAGGAACATCACGGCCCAGCTGCCCACTAAAG
Seq A exon
GAAAATCCTTCCCTGGAACACAGAATTTCCACTTGGAGGTTGGCCTCATTATTCTCTCTGTAGTGTTCGCAGTATGTCTTTTAGCCTGCCTGCTGGGAGTTGCTCTCCGAAAATTTAAAAGGCGCAACCAAGAACGCCTCAATCCCCGAGACGTGGAGTATGGCACTATCGAAGGGCTCATCACCACCAATGTTGGAGACAGCACTTTAGCA
Seq C2 exon
GATTTATTGGATCATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115170-'30-17,'30-15,32-17=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=0.002 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=WD(100=84.3)
A:
PF085157=TGF_beta_GS=PU(10.3=4.2)
C2:
PF085157=TGF_beta_GS=PD(82.8=70.6),PF0006920=Pkinase=PU(2.4=20.6)
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:
CCCAAGGTCAACCCCAAACTC
R:
ACCAGAGCCACTTCCTGATGT
Band lengths:
298-510
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains