HsaINT0003391 @ hg38
Intron Retention
Gene
ENSG00000139567 | ACVRL1
Description
activin A receptor like type 1 [Source:HGNC Symbol;Acc:HGNC:175]
Coordinates
chr12:51913974-51914585:+
Coord C1 exon
chr12:51913974-51914073
Coord A exon
chr12:51914074-51914438
Coord C2 exon
chr12:51914439-51914585
Length
365 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
3' ss Seq
CCTTCCCCTCTGGCCATCAGGAA
3' ss Score
6.85
Exon sequences
Seq C1 exon
GACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGG
Seq A exon
GTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAG
Seq C2 exon
GAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139567:ENST00000388922:5
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:
PF085157=TGF_beta_GS=PD(82.8=70.6),PF0006920=Pkinase=PU(2.4=20.6)
A:
NA
C2:
PF0006920=Pkinase=PD(87.0=95.2)
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:
GACCTCCTGGACAGTGACTGC
R:
TAGGATGTTGTCGTGTCTGAGC
Band lengths:
246-611
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