HsaEX6016111 @ hg38
Exon Skipping
Gene
ENSG00000115170 | ACVR1
Description
activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171]
Coordinates
chr2:157765921-157774187:-
Coord C1 exon
chr2:157774088-157774187
Coord A exon
chr2:157770368-157770514
Coord C2 exon
chr2:157765921-157766196
Length
147 bp
Sequences
Splice sites
3' ss Seq
CTATGTTTTGCTTTTCATAGGGA
3' ss Score
8.7
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
Exon sequences
Seq C1 exon
GATTTATTGGATCATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCG
Seq A exon
GGAAAGGCAGGTATGGTGAGGTGTGGAGGGGCAGCTGGCAAGGGGAGAATGTTGCCGTGAAGATCTTCTCCTCCCGTGATGAGAAGTCATGGTTCAGGGAAACGGAATTGTACAACACTGTGATGCTGAGGCATGAAAATATCTTAG
Seq C2 exon
GTTTCATTGCTTCAGACATGACATCAAGACACTCCAGTACCCAGCTGTGGTTAATTACACATTATCATGAAATGGGATCGTTGTACGACTATCTTCAGCTTACTACTCTGGATACAGTTAGCTGCCTTCGAATAGTGCTGTCCATAGCTAGTGGTCTTGCACATTTGCACATAGAGATATTTGGGACCCAAGGGAAACCAGCCATTGCCCATCGAGATTTAAAGAGCAAAAATATTCTGGTTAAGAAGAATGGACAGTGTTGCATAGCAGATTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115170-'35-19,'35-18,36-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF085157=TGF_beta_GS=PD(82.8=70.6),PF0006920=Pkinase=PU(2.4=20.6)
A:
PF0006920=Pkinase=FE(17.0=100)
C2:
PF0006920=Pkinase=FE(31.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTCGCCAGATTACACTGTT
R:
AATCTCGATGGGCAATGGCTG
Band lengths:
251-398
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains