HsaEX0002200 @ hg38
Exon Skipping
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51951706-51975504:+
Coord C1 exon
chr12:51951706-51951834
Coord A exon
chr12:51960056-51960187
Coord C2 exon
chr12:51975265-51975504
Length
132 bp
Sequences
Splice sites
3' ss Seq
TGTTCATTTCTGATATCCAGGAT
3' ss Score
6.57
5' ss Seq
GAGGTACAG
5' ss Score
6.62
Exon sequences
Seq C1 exon
GCTGGGCTGCGGCGGCGGCGGCGGCGGCGGTGGTTACTATGGCGGAGTCGGCCGGAGCCTCCTCCTTCTTCCCCCTTGTTGTCCTCCTGCTCGCCGGCAGCGGCGGGTCCGGGCCCCGGGGGGTCCAGG
Seq A exon
GATGTGCCTAGCACCAAGCTGAATGCTGAGAGGGATCCTGAGGAAAGAGTCTGTCCTTGCCCTTTGGAAGTTTACACACAGAGACCGGCCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGAGAATGAG
Seq C2 exon
CTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGTGTGAGACAGATGGGGCCTGCATGGTTTCCATTTTCAATCTGGATGGGATGGAGCACCATGTGCGCACCTGCATCCCCAAAGTGGAGCTGGTCCCTGCCGGGAAGCCCTTCTACTGCCTGAGCTCGGAGGACCTGCGCAACACCCACTGCTGCTACACTGACTACTGCAACAGGATCGACTTGAGGGTGCCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503-'2-3,'2-2,3-3=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=0.333 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0106418=Activin_recp=WD(100=96.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAGAGTGGTTCCCAGCTGA
R:
TCCGAGCTCAGGCAGTAGAAG
Band lengths:
258-390
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