HsaEX0002207 @ hg38
Exon Skipping
Gene
ENSG00000123612 | ACVR1C
Description
activin A receptor type 1C [Source:HGNC Symbol;Acc:HGNC:18123]
Coordinates
chr2:157550162-157587417:-
Coord C1 exon
chr2:157587187-157587417
Coord A exon
chr2:157556093-157556332
Coord C2 exon
chr2:157550162-157550392
Length
240 bp
Sequences
Splice sites
3' ss Seq
CTTTCTTCTTTAAACTGTAGCAT
3' ss Score
8.35
5' ss Seq
CTGGTATGT
5' ss Score
8.14
Exon sequences
Seq C1 exon
GACTGAAGTGTGTATGTCTTTTGTGTGATTCTTCAAACTTCACCTGCCAAACAGAAGGAGCATGTTGGGCATCAGTCATGCTAACCAATGGAAAAGAGCAGGTGATCAAATCCTGTGTCTCCCTTCCAGAACTGAATGCTCAAGTCTTCTGTCATAGTTCCAACAATGTTACCAAAACCGAATGCTGCTTCACAGATTTTTGCAACAACATAACACTGCACCTTCCAACAG
Seq A exon
CATCACCAAATGCCCCAAAACTTGGACCCATGGAGCTGGCCATCATTATTACTGTGCCTGTTTGCCTCCTGTCCATAGCTGCGATGCTGACAGTATGGGCATGCCAGGGTCGACAGTGCTCCTACAGGAAGAAAAAGAGACCAAATGTGGAGGAACCACTCTCTGAGTGCAATCTGGTAAATGCTGGAAAAACTCTGAAAGATCTGATTTATGATGTGACCGCCTCTGGATCTGGCTCTG
Seq C2 exon
GTCTACCTCTGTTGGTTCAAAGGACAATTGCAAGGACGATTGTGCTTCAGGAAATAGTAGGAAAAGGTAGATTTGGTGAGGTGTGGCATGGAAGATGGTGTGGGGAAGATGTGGCTGTGAAAATATTCTCCTCCAGAGATGAAAGATCTTGGTTTCGTGAGGCAGAAATTTACCAGACGGTCATGCTGCGACATGAAAACATCCTTGGTTTCATTGCTGCTGACAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123612_MULTIEX1-1/2=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:
PF0106418=Activin_recp=WD(100=96.2),PF085157=TGF_beta_GS=PU(7.7=1.3)
A:
PF085157=TGF_beta_GS=PU(58.6=21.0)
C2:
PF085157=TGF_beta_GS=PD(37.9=14.1),PF0006920=Pkinase=PU(22.2=82.1)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAGAAGGAGCATGTTGGGCAT
R:
CCACATCTTCCCCACACCATC
Band lengths:
294-534
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