HsaINT0003376 @ hg38
Intron Retention
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor type 2A [Source:HGNC Symbol;Acc:HGNC:173]
Coordinates
chr2:147918447-147920344:+
Coord C1 exon
chr2:147918447-147918592
Coord A exon
chr2:147918593-147920229
Coord C2 exon
chr2:147920230-147920344
Length
1637 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGAC
5' ss Score
6.89
3' ss Seq
ATACTCTTTTTATTTGCAAGGGA
3' ss Score
4.5
Exon sequences
Seq C1 exon
GGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAG
Seq A exon
GTAGACTAAATTTATATTGTTTTCCCAGATAATTGAGTATATATTTACTAAACTTTTAAGCCCCTGGGTAAATTTTAATTTTTCCTTTGTTATGCAATCATGCTTTACAAGACAGTCAGTTTTCATTTGTTTTTTAAAATTAGCTTTGAGATTGGCCAGGAAGTATTTTGGATAATGTATATGTTAACATTATTGGTAAAGTTTAATGATCTACTTCATCTCATTTCTGAAAGCATGATTGAAAATAAACTATATTTTCTCGATCTCAAAGGAAAAAGACATTTGTTTTACCTCAAAACATGATTTATCAATAGGGATTATTATCCAAGGGCATGTAATGAAGGAGAGACTTTGAATGTCTTCCTTGCTTGTTTTTTGAATGACCTTATCTGTACCCTGAGCCAAGTCTTAAAGGGAGGCATCACTTAAAACAGTTGTCCAGTGAAGAAATACTACTTAGACCCAACAGTTGTCATGCCCGCAAAAGGAAAAATGATTGTGTCTTAAACATGGAATTCAGTTTGCCATGTATTTAATTTTCTTGAACGTGGGATTCAATTTGTTGTCTTGTGTTCCATTTAAAGATGGTTGTTTGAAAAGTAGGCATTAACTGATTCACAGAACAGATACTTAGCTGAGTGCCACCAGGCGATGTTTTAGGTTGCTGGGAGGCATTATTGTAAGTCAGCCTCTAATTTAGGTTCTGATTTTGCAAACTTTAAATGACGTCTACCTCAGAAATAACTCTTCTCACTTTCTTACATGCAGTCTATTGGCCTCGTCTTCGATTTTCCCTTGCCCTACCTGGTCACATAGGGAATTAATCCTTAAGGACCCCCAAAGTTATTAAGGGCCTGAAAGTCTTTTGAAACTAAGATCGATTAGCTTTTATAGCATTTGGGAGTGTCTGCTTGTGCTTTCAGTATCCCATTATTGGTCTATATGTCTGCACATAAATTTAACCACTAGTCATTGGCATAGATGTATTTAACTAGGGTATAGTAATCTCTAGGATGAGCCAGTTGAGACAGGTGTGTAGAAGAGGATATCTTACTGCCTTAAAACTGTTACCCTTTTCAGAACACCAGGATCTAGCTAGAGCAGTGTATGTTTATGGTAAAAAGTTTCTGTTATTCATTCCATAAGATGCTTTTCTACAACCAGGTGGAAGAATATAAGAACCTCTATAATAAGGGATTATTCTAAAATGTAGGTCTCTACCAATAAGCAGAAGGCCCCAATTCAGCTATTTTTTAAAAGTTTCTTCATTTTGGTTTAAAATTTCTGTTTCTATGGGAGTTTGCAAATCAGAACTCTGAGATATTAACAGTAGTTTTATGATTGGTAGGTGGGTGACATAGATAACATATCTTTTTGGTATGGCAGATTTTTATATAACTGCTTTATAGGTAGGATTCCTTCTTATTGTCCATGTTATGAATAGGGGTTTGTCACCGTGCTCTTGTGTTTAAGGCTGCATGGGGCTCTGAGCTTTGTTTGTCTCACTTTCTCTGCATTTCATAATTTTAAGTAACTATTTTTTCATAGTGTACATATTCCCCCTTTTCTGCTTTCAATAAAAAATTTAAAAAGGTAACTAGTTTAAACTTAATTTGAATACTCTTTTTATTTGCAAG
Seq C2 exon
GGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989:ENST00000241416:7
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=0.051
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=PD(11.8=35.9)
A:
NA
C2:
PF0006920=Pkinase=FE(13.2=100)
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:
GGTTCACTATCAGACTTTCTTAAGGC
R:
ATGGGTATCGCCTGCAGACTT
Band lengths:
255-1892
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development