Special

HsaEX6066598 @ hg19

Exon Skipping

Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor, type IB [Source:HGNC Symbol;Acc:172]
Coordinates
chr12:52369049-52374983:+
Coord C1 exon
chr12:52369049-52369288
Coord A exon
chr12:52370111-52370359
Coord C2 exon
chr12:52374753-52374983
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-'3-4,'3-3,4-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No 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=96.3)
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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
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