HsaINT0003352 @ hg38
Intron Retention
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51985192-51986942:+
Coord C1 exon
chr12:51985192-51985348
Coord A exon
chr12:51985349-51986817
Coord C2 exon
chr12:51986818-51986942
Length
1469 bp
Sequences
Splice sites
5' ss Seq
ACGGTAGGA
5' ss Score
8.6
3' ss Seq
TGTTTGTTTTGCTATTGCAGATA
3' ss Score
9.67
Exon sequences
Seq C1 exon
GGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTCTGGTGAAGAAAAATGGCATGTGTGCCATAGCAGACCTGGGCCTGGCTGTCCGTCATGATGCAGTCACTGACACCATTGACATTGCCCCGAATCAGAGGGTGGGGACCAAACG
Seq A exon
GTAGGAGGGCCTGGGACTCTGCCCTTGCTAAGCAGCTTCTACTGAGTATCCCATCTGTGCCGTTTCCCATATGCGCAGGAGAAGGAGGTGTTGAAAAAGGAGGCGAGGACCTTGCTCTCAGCCCACTGAAAGTTGAATTGAACATGCACTCCCCACAATGGAAAGTTGCATCACTGCATCTAACAGATACAAGTGCTGAGAGCACAGCTCCATAAACTGTATGCACATTGGTGTTGGTGGTATTAAGGTCGGAGGGTAGAGAAGGACAATCTAGAGCAGGATTTAGAAGGATAGCAGGCAACAGGTGTGGCTCGGGAAAGAGGGAAAACACTGTCATCTCCTGTGCAGAGAGCTGTGAAGGAGGCAGGGAGCATGTGCTTAGGGACTGGAGACCAGATTTGCCAAACTATAGCAAAGGTAACCCAGGATAGAGATTTGGGGCACCCTTCAAGATTATGGGCCTGCTTCCCACTTCATGCAGAAGTGAGGTAAGAAGTAAGGAGCTGTGATTGCAAATTGACTTCATGAGTTGGAAATGGGACTGCCTTTTAATAGAGTGGAAGAGGTGGAAATCTGCTGAATCTAAATGAATTTAATTAAGATTATCCCCTGATTTATTGTGGGGGCTGGGGTGGCTGGAATCATAGTAATTACTCATAATTACTACTCAGAGTCATTAAGGGTGCCGCTGACCACCTCTAGAATTAATTTTGACATATCTATAGTCAGGTAAGATAACAAAAGCAGTTCGGAATGAAACTTAAGCTCAACCCATCACTGTGACTACATTCAATAAAGTGAAGGACCCTGGTGTCAACCAAATATTAGGTACTGTTACTGCCCCTGTGACCCACATTACAAGTACTTCTGCCAAGAAGTCAAAACATGCTTCAAATAAACAAATCTTTACTCTCTCTTTGTTTTTTTGATATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGCAATGGCACAGTCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTGTAATAGAGATGGGGTTTCGCGATGTTGGCCAGGCTGGTCTCCAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAAATAAACAAATCTTGATGGTTAAAAATAGAGATACACATCAGAGTAGCCTGGTATTGCCAAATCTGTGCTGAAGTATTTAGAATCAAATTTAAAACATGGGAGTTTGCAATGAAGAGATGTGTACACTTCTTCTGCCCCAAGGGACTTTATCAGGGTGATACTCTTCCACATTCAGAGGGCTCCTGAATCAATACTTTGATTTAAAGAGAGCAGTCATCATTTTCTGTGCGTGACCATGTTTGTTTTGCTATTGCAG
Seq C2 exon
ATACATGGCCCCTGAAGTACTTGATGAAACCATTAATATGAAACACTTTGACTCCTTTAAATGTGCTGATATTTATGCCCTCGGGCTTGTATATTGGGAGATTGCTCGAAGATGCAATTCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503:ENST00000542485:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(18.1=100)
A:
NA
C2:
PF0006920=Pkinase=PD(25.4=53.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTGGAATTGCTCATCGAG
R:
TCCAGAATTGCATCTTCGAGCA
Band lengths:
278-1747
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development