HsaINT0003348 @ hg38
Intron Retention
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51975265-51976575:+
Coord C1 exon
chr12:51975265-51975504
Coord A exon
chr12:51975505-51976326
Coord C2 exon
chr12:51976327-51976575
Length
822 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
TCCTCTCTCACTTGACTCAGGTC
3' ss Score
7.89
Exon sequences
Seq C1 exon
CTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGTGTGAGACAGATGGGGCCTGCATGGTTTCCATTTTCAATCTGGATGGGATGGAGCACCATGTGCGCACCTGCATCCCCAAAGTGGAGCTGGTCCCTGCCGGGAAGCCCTTCTACTGCCTGAGCTCGGAGGACCTGCGCAACACCCACTGCTGCTACACTGACTACTGCAACAGGATCGACTTGAGGGTGCCCAGTG
Seq A exon
GTGAGTGCATGCCCTTGTTGGGCTAGTGGCTCAGCTTGGAGATAGGGTACCCCGTCATTTCATTTTTTTCTACTCTTGCCCACTCACTTGGTTTGACGATAAAGATGCCTTTTGGATGTTCCCGAAGGTGACAAAGGCTGGGGTTTCTCAGCAGTTGCTTTTGTAGATTAGAGGGTGAGGAAGCAGATTTTCAAGTTAGTCCCAGAGGTGCCCGCAGTGTTTAGAGTAGTGGCTTAGCAGCCATAGGCAGCGGTGAGGAGTGGAAGAACCAGGCAGGGATTCCCACGGGAGGATGTGGGACTGATCCAGAAAGAGATGGCCCCAGAGCCGAGCAAAGGTGACTCCTCAAGGGAGGATGATGGTTAGATGTGAGGAGGGACCAGAATAGGAAAAGGCCAGTGACCAAAGCCGAGAAACACCACATACCATCCTTTTGCAAGCCTACCATTCAGGAGGCATTACTGTGGAGCCCACAGGAAAAGGAGAGAAACTAAAGCAGAGCTTAGAGGAGCTGTGGGAAGTTAAAGGGCAGAAACAGGCATCTGTGTAGGGGCCTGAGGCGGGGATAGTACCACGAAATGCGTGAGGTGACAAAGTGGGTTGTGGGTTTGACTGTGGAAAGAGGTGCCTTAACTAAAGAAGTTGGGCATTTGAGAGCATCTAGGCAGCAAGACTAGCCCAGAAGATTAGAGAGATCAAGGGAGCCTGAACACATCGACAGGGAAAGGGGTCTTTTTCACTCTTCACTTTGAGGGGGGTGTTTTTACTCTTTCCCTTGTTTTTACTTCTCATTCTTTCCCTCTCCTCTCTCACTTGACTCAG
Seq C2 exon
GTCACCTCAAGGAGCCTGAGCACCCGTCCATGTGGGGCCCGGTGGAGCTGGTAGGCATCATCGCCGGCCCGGTGTTCCTCCTGTTCCTCATCATCATCATTGTTTTCCTTGTCATTAACTATCATCAGCGTGTCTATCACAACCGCCAGAGACTGGACATGGAAGATCCCTCATGTGAGATGTGTCTCTCCAAAGACAAGACGCTCCAGGATCTTGTCTACGATCTCTCCACCTCAGGGTCTGGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503:ENST00000542485:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.001
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=WD(100=96.3)
A:
NA
C2:
PF085157=TGF_beta_GS=PU(58.6=20.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCCCAAAGTGGAGCTGGTC
R:
AGACAAGATCCTGGAGCGTCT
Band lengths:
343-1165
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