HsaEX1002579 @ hg38
Exon Skipping
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51982686-51984166:+
Coord C1 exon
chr12:51982686-51982808
Coord A exon
chr12:51983344-51983466
Coord C2 exon
chr12:51983999-51984166
Length
123 bp
Sequences
Splice sites
3' ss Seq
CTTCCATTGCTCCTCTGAAGGAT
3' ss Score
7.55
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
CAGACTGCTCATTCCTCACATTGCCATGGGAAGTTGTAATGGTCTCTGCTGCCCCCAAGCTGAGGAGCCTTAGACTCCAATACAAGGGAGGAAGGGGAAGAGCAAGATTTTTATTCCCACTGA
Seq A exon
GATGAGATGCCTTTCTGGGAATACTTGGAAGTGGTCTATTCATGCACTGAAAAGCATTTTTTGGCCTGGAATCCAATAATCCATAAAGGAGATCTTTCCTACTCACAGAGATATCATAGCCTG
Seq C2 exon
ATAATGGCACCTGGACACAGCTGTGGCTTGTTTCTGACTATCATGAGCACGGGTCCCTGTTTGATTATCTGAACCGGTACACAGTGACAATTGAGGGGATGATTAAGCTGGCCTTGTCTGCTGCTAGTGGGCTGGCACACCTGCACATGGAGATCGTGGGCACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503_MULTIEX1-4/10=3-5
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=PD(23.5=47.6)
A:
NO
C2:
PF0006920=Pkinase=FE(19.4=100)
Main Inclusion Isoform:
ENST00000541224fB8638
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
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:
TTGTAATGGTCTCTGCTGCCC
R:
CGATCTCCATGTGCAGGTGTG
Band lengths:
246-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains