HsaEX6066598 @ hg38
Exon Skipping
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51975265-51981199:+
Coord C1 exon
chr12:51975265-51975504
Coord A exon
chr12:51976327-51976575
Coord C2 exon
chr12:51980969-51981199
Length
249 bp
Sequences
Splice sites
3' ss Seq
TCCTCTCTCACTTGACTCAGGTC
3' ss Score
7.89
5' ss Seq
CAGGTACCA
5' ss Score
7.88
Exon sequences
Seq C1 exon
CTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGTGTGAGACAGATGGGGCCTGCATGGTTTCCATTTTCAATCTGGATGGGATGGAGCACCATGTGCGCACCTGCATCCCCAAAGTGGAGCTGGTCCCTGCCGGGAAGCCCTTCTACTGCCTGAGCTCGGAGGACCTGCGCAACACCCACTGCTGCTACACTGACTACTGCAACAGGATCGACTTGAGGGTGCCCAGTG
Seq A exon
GTCACCTCAAGGAGCCTGAGCACCCGTCCATGTGGGGCCCGGTGGAGCTGGTAGGCATCATCGCCGGCCCGGTGTTCCTCCTGTTCCTCATCATCATCATTGTTTTCCTTGTCATTAACTATCATCAGCGTGTCTATCACAACCGCCAGAGACTGGACATGGAAGATCCCTCATGTGAGATGTGTCTCTCCAAAGACAAGACGCTCCAGGATCTTGTCTACGATCTCTCCACCTCAGGGTCTGGCTCAG
Seq C2 exon
GGTTACCCCTCTTTGTCCAGCGCACAGTGGCCCGAACCATCGTTTTACAAGAGATTATTGGCAAGGGTCGGTTTGGGGAAGTATGGCGGGGCCGCTGGAGGGGTGGTGATGTGGCTGTGAAAATATTCTCTTCTCGTGAAGAACGGTCTTGGTTCAGGGAAGCAGAGATATACCAGACGGTCATGCTGCGCCATGAAAACATCCTTGGATTTATTGCTGCTGACAATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503-'9-6,'9-4,13-6=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=0.001 C2=0.000
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=WD(100=96.3)
A:
PF085157=TGF_beta_GS=PU(58.6=20.2)
C2:
PF085157=TGF_beta_GS=PD(37.9=14.1),PF0006920=Pkinase=PU(22.2=82.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCAACTACACGTGTGAGAC
R:
TACTTCCCCAAACCGACCCTT
Band lengths:
292-541
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains