HsaEX0002203 @ hg38
Exon Skipping
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51980969-51991993:+
Coord C1 exon
chr12:51980969-51981199
Coord A exon
chr12:51983999-51984166
Coord C2 exon
chr12:51991863-51991993
Length
168 bp
Sequences
Splice sites
3' ss Seq
TCATCTGTGGTTCTCTGCAGATA
3' ss Score
11.24
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GGTTACCCCTCTTTGTCCAGCGCACAGTGGCCCGAACCATCGTTTTACAAGAGATTATTGGCAAGGGTCGGTTTGGGGAAGTATGGCGGGGCCGCTGGAGGGGTGGTGATGTGGCTGTGAAAATATTCTCTTCTCGTGAAGAACGGTCTTGGTTCAGGGAAGCAGAGATATACCAGACGGTCATGCTGCGCCATGAAAACATCCTTGGATTTATTGCTGCTGACAATAAAG
Seq A exon
ATAATGGCACCTGGACACAGCTGTGGCTTGTTTCTGACTATCATGAGCACGGGTCCCTGTTTGATTATCTGAACCGGTACACAGTGACAATTGAGGGGATGATTAAGCTGGCCTTGTCTGCTGCTAGTGGGCTGGCACACCTGCACATGGAGATCGTGGGCACCCAAG
Seq C2 exon
GAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503_MULTIEX1-5/10=1-9
Average complexity
C2
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(37.9=14.1),PF0006920=Pkinase=PU(22.2=82.1)
A:
PF0006920=Pkinase=FE(19.4=100)
C2:
PF0006920=Pkinase=PD(18.3=84.2)
Main Skipping Isoform:
ENST00000541224fB8638
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGTGATGTGGCTGTGAAA
R:
CAGTTGGGGATGTTGGGACG
Band lengths:
245-413
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development