HsaEX1002578 @ hg38
Exon Skipping
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51980969-51984166:+
Coord C1 exon
chr12:51980969-51981199
Coord A exon
chr12:51981504-51981969
Coord C2 exon
chr12:51983999-51984166
Length
466 bp
Sequences
Splice sites
3' ss Seq
CAAACCCACCTCCATTGTAGTTC
3' ss Score
4.95
5' ss Seq
TTGGTCAGT
5' ss Score
5.07
Exon sequences
Seq C1 exon
GGTTACCCCTCTTTGTCCAGCGCACAGTGGCCCGAACCATCGTTTTACAAGAGATTATTGGCAAGGGTCGGTTTGGGGAAGTATGGCGGGGCCGCTGGAGGGGTGGTGATGTGGCTGTGAAAATATTCTCTTCTCGTGAAGAACGGTCTTGGTTCAGGGAAGCAGAGATATACCAGACGGTCATGCTGCGCCATGAAAACATCCTTGGATTTATTGCTGCTGACAATAAAG
Seq A exon
TTCCTGCAGGGGGTCCCGTAAGCTTATTTTGAAAATCACTAGGATGGGCTGGGCGCGGTGGCTCACGCATGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGCCACGGTGACACCTACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGGAGGTTGCAGTGAGCTGAGGTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAAAAAAAATCCCTAGGATGAGGAATTGCGGCCTCAACCCTGGCAAGGAGGATAACGACAGAAAAGCCTGTAGTCCACGAAGTGTCGCCTTCGGACTCTGCTCTTG
Seq C2 exon
ATAATGGCACCTGGACACAGCTGTGGCTTGTTTCTGACTATCATGAGCACGGGTCCCTGTTTGATTATCTGAACCGGTACACAGTGACAATTGAGGGGATGATTAAGCTGGCCTTGTCTGCTGCTAGTGGGCTGGCACACCTGCACATGGAGATCGTGGGCACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503_MULTIEX1-2/10=1-5
Average complexity
C1
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:
PF085157=TGF_beta_GS=PD(37.9=14.1),PF0006920=Pkinase=PU(22.2=82.1)
A:
PF0006920=Pkinase=PD(4.4=27.3)
C2:
PF0006920=Pkinase=FE(19.4=100)
Main Inclusion Isoform:
ENST00000257963fB8637
Other Inclusion 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:
GTTACCCCTCTTTGTCCAGCG
R:
AGGCCAGCTTAATCATCCCCT
Band lengths:
344-810
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains