HsaEX0002216 @ hg38
Exon Skipping
Gene
ENSG00000139567 | ACVRL1
Description
activin A receptor like type 1 [Source:HGNC Symbol;Acc:HGNC:175]
Coordinates
chr12:51915225-51919115:+
Coord C1 exon
chr12:51915225-51915500
Coord A exon
chr12:51916036-51916233
Coord C2 exon
chr12:51918985-51919115
Length
198 bp
Sequences
Splice sites
3' ss Seq
GACAGGCCTCACCCCCACAGGCC
3' ss Score
7.39
5' ss Seq
ATGGTGAGG
5' ss Score
7.61
Exon sequences
Seq C1 exon
GCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGG
Seq A exon
GCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATG
Seq C2 exon
GCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139567_MULTIEX2-1/2=C1-2
Average complexity
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:
PF0006920=Pkinase=FE(31.8=100)
A:
PF0006920=Pkinase=FE(22.8=100)
C2:
PF0006920=Pkinase=PD(46.5=88.9)
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:
ACTTTCTGCAGAGACAGACGC
R:
CATGTCCTCAAAGCTGGGGTC
Band lengths:
257-455
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development