Special

HsaEX0002200 @ hg19

Exon Skipping

Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor, type IB [Source:HGNC Symbol;Acc:172]
Coordinates
chr12:52345486-52369288:+
Coord C1 exon
chr12:52345486-52345618
Coord A exon
chr12:52353840-52353971
Coord C2 exon
chr12:52369049-52369288
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
CGCTGCTGGGCTGCGGCGGCGGCGGCGGCGGCGGTGGTTACTATGGCGGAGTCGGCCGGAGCCTCCTCCTTCTTCCCCCTTGTTGTCCTCCTGCTCGCCGGCAGCGGCGGGTCCGGGCCCCGGGGGGTCCAGG
Seq A exon
GATGTGCCTAGCACCAAGCTGAATGCTGAGAGGGATCCTGAGGAAAGAGTCTGTCCTTGCCCTTTGGAAGTTTACACACAGAGACCGGCCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGAGAATGAG
Seq C2 exon
CTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGTGTGAGACAGATGGGGCCTGCATGGTTTCCATTTTCAATCTGGATGGGATGGAGCACCATGTGCGCACCTGCATCCCCAAAGTGGAGCTGGTCCCTGCCGGGAAGCCCTTCTACTGCCTGAGCTCGGAGGACCTGCGCAACACCCACTGCTGCTACACTGACTACTGCAACAGGATCGACTTGAGGGTGCCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.013 A=0.333 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0106418=Activin_recp=WD(100=96.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
CTCCTCCTTCTTCCCCCTTGT
R:
TCCGAGCTCAGGCAGTAGAAG
Band lengths:
243-375
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