HsaINT0003370 @ hg19
Intron Retention
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor, type IIA [Source:HGNC Symbol;Acc:173]
Coordinates
chr2:148683600-148688393:+
Coord C1 exon
chr2:148683600-148683730
Coord A exon
chr2:148683731-148684648
Coord C2 exon
chr2:148684649-148688393
Length
918 bp
Sequences
Splice sites
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
3' ss Seq
ATATGTTTTTCTCCTTTTAGGGA
3' ss Score
11.74
Exon sequences
Seq C1 exon
GACCTGTAGATGAATACATGTTGCCATTTGAGGAGGAAATTGGCCAGCATCCATCTCTTGAAGACATGCAGGAAGTTGTTGTGCATAAAAAAAAGAGGCCTGTTTTAAGAGATTATTGGCAGAAACATGCT
Seq A exon
GTAAGTTATCCAGTTAGCTTTTCATTTGAAATTCCAATAAAACACTTTTCAGAGGAATTATTTATCTCTGCACATTTCTCTTTCTTCTGCAAGTATTTTCTGGAAGGTGATCTTCACACAGGATATTCTAGAGTTCTAGAGGCAGAATTAGGGCTATGTCTGTATACCCCTGAAGGTGATTGTAAAGTAATAGAGCTTTAGAGGGCTTTTGTCTCAATGGTCCTGTGCAGAAGATTGTGTCATCTATTTAGAAAGTTTCCCAGGGAAAAGGCATGCCAGACTCGGAAACTGTGGATAGTTGGGTAACTTTGCTGATGACCACTTCCAATATGACAACATTTTAAAAAGTTTATGAAGCACCATGTTTTCTCCTCTCCATGGGAGTTTGTTGTAGCCTTTTAATTTCGGCTTAGACTTTCAAGTCTTAATAGTGCTTTAAAACTATAGAGACCAGGCACATAACAGTATTGCCCTGGTTATTTCAGTCTAAATATAACTAGAAACCTGGCTAAAACCAGGTAGAGAAATCCCAAGGGTGGCTTTCTGATCTTCTGTTTAATTGTAAGATAGAAATGCTGATATTAACTAAGAAAACAATAAAAATTGGTAGGTCCCCTTTATCCTTGATTTTTGAGTCCATTTGAAGGGTTAGCATTGAAATGACCTGGGTTATGAACAAGGGATAGAGATTTTTTTTTTGGAGTTAAAAAAATTCCTCTTGTGATAGTCTCATGCTTAAAAAAAAAGTTCTGTTTGTGCTTTTCTTTATGATTCTGCACATGGTAGTCAATAAAAGTGAATGTTGACAGAAACTTCTTTGACCCAGAAAAATAGCCATTTCTTCATGAAAATTTTATTGTTTCCTAATAGAAAACAAAAACTGCTGTGGCGTTTGAGTATATGTTTTTCTCCTTTTAG
Seq C2 exon
GGAATGGCAATGCTCTGTGAAACCATTGAAGAATGTTGGGATCACGACGCAGAAGCCAGGTTATCAGCTGGATGTGTAGGTGAAAGAATTACCCAGATGCAGAGACTAACAAATATTATTACCACAGAGGACATTGTAACAGTGGTCACAATGGTGACAAATGTTGACTTTCCTCCCAAAGAATCTAGTCTATGATGGTTGCGCCATCTGTGCACACTAAGAAATGGGACTCTGAACTGGAGCTGCTAAGCTAAAGAAACTGCTTACAGTTTATTTTCTGTGTAAAATGAGTAGGATGTCTCTTGGAAATGTTAAGAAAGAAGACCCTTTGTTGAAAAATGTTGCTCTGGGAGACTTACTGCATTGCCGACAGCACAGATGTGAAGGACATGAGACTAAGAGAAACCTTGCAAACTCTATAAAGAAACTTTTGAAAAAGTGTACATGAAGAATGTAGCCCTCTCCAAATCAAGGATCTTTTGGACCTGGCTAATGGAGTGTTTGAAAACTGACATCAGATTTCTTAATGTCTGTCAGAAGACACTAATTCCTTAAATGAACTACTGCTATTTTTTTTAAATCAAAAACTTTTCATTTCAGATTTTAAAAAGGGTAACTTGTTTTTATTGCATTTGCTGTTGTTTCTATAAATGACTATTGTAATGCCAATATGACACAGCTTGTGAATGTTTAGTGTGCTGCTGTTCTGTGTACATAAAGTCATCAAAGTGGGGTACAGTAAAGAGGCTTCCAAGCATTACTTTAACCTCCCTCAACAAGGTATACCTCAGTTCCACGGTTGCTAAATTATAAAATTGAAAACACTAACAAAATTTGAATAATAAATCGATCCATGTTTTGTAACAAATTCACTGTGTTATTTAAGGAAAAAAAGGTAAGCTATGCTTAGTGCCAACAATAAGTGGCCATTCGTAAAGCAGTGTTTTAGCATTTCTTGTGCTGGCTTGTAATGTAGGGAAAAAAAGTGCTGTTTTTTGAAAAGATGGTGTCATTTCCCCCTTCTTCCCATGTTTTAAAGCCCCATCTTATATCCAGTTCCCAAAATTTGCATACTTACCTAAGTATTTTTTTTAGGTGTGCTGTGTTTGGGGAATATTTGAAAATTTAAAGCATGATTTAAAATTTTTTAAAGTGAGCTGTGACACTGGAAAGCTCTTCATTTTATCTTTTAAAATAGAGTTTTTTCTATTTATATATGTAAAATTGTAGTGTATTTCTTTTCACCAAACAGTGTGTGGGACATTCTTTATCACTGTTTTAGGATCACCTCAGGAAGTGTCGTTACCCAGAATTCCCCACTGTCTGCTATGAGACTTGTAACTTTATCACTATACTTCTGCTTGGTGCCATCTTGTCAGAGTAATATTTGATGTCTGTGATATGTAAAGAATTATCCTAGGATAAAGATATTAAACTTTAAGCAGATTTCAGATGTTACTGCTTTAAAACAAATCAGGGATAACAAATTAAACGTATAACTTAAAATATGCAATGACATTTAGAGGTAACCAATGTTGATATAGGTAGCATAGCCTAGCCTCCTCCCCAAAATTGCTTTTACAACTAACACTGATACTAATTTAGGATAGTTCATGCCTTATCCTTGCTAAGAAAATGGAATTGATGGTAGGCAGGTGCTAAAGTGCTTTTCAAAACAATATTACGTTAGAATACAATTGGATTCTTCCTCAAATTTATACAGGCCAAAAAGTAAAACATTAATTTTCTGAATTTCCAGATTACCAATCAATTAATCAACAAATAGCCAGTATTATGCTGTGTATTTCTGTCAGGTCATTTTAAAATCCATGTTAATTTTATAAAAGAATTTTTTACATGTCACTGTCAGGAGCTCACTGTGAATGTGTTGTCTTCAAATGGTTATTTAACCACACAGTACACTACATTTTACATATATGTACGTAATCTCTGGGAATAGTAAATTAATTATGTTATTTATAAACAATACATAGGTCAACAGACTTTAAGCAGGGAGGAAAAGAAGAGTAATAGCGTCTGTGTGCTGCAGACCATTCAGAACTGTCACGTGTGTCCCCATGGTCTCATTCATTGTATTCCTAGCAATTCCCTTTTCAATGTTGAGTTCACCTCTTTATTTCACAAAGTACTTGGTCTCTCAATTTCTTGATCTGGTTTTGCTTCCATTTAAAAACTAATCAAGAAGGGAAAATATTGAGAATGTGCATACAAGAAAATCATTAATTTCCTGAAGATGAATTTCTACCTGTTGTGAACATTTAACTTTCTTTTTAAAAGTTAAACAAAAATAAACAAGGGATATTATGATGAATGTTTGGCTTATGTGAGTACTAGAGATAAAATTTTTAAACCCAGTTATTCACAATATAAAATGTTTTCAAGTTAGAAAAAATTTTTAGAAATCCTGGGTATTGTATTTAACTGTAGCTAACCAATTTTAAAACTTGTATTCTTTTGAGAACTATTATTAATAGAAAAACTTTTTATAAGCAGTAAAATAAGAATGTTCCAGTGACTACCTGTCCTTATACCTAGTCTTGTTAAAACTTTCTTTTGCAGGGTATTTAGTGTTTGGTTTACAGTCAGTGCAGAGTGGGCAAGTTAACAGAAAGTTTGAGCTAGAGATACTGGAAAAAAAAAAGATCAAAGAATGAGAAAAATGGTGATCCATTTTGGGGCAAACTGAGACCCCCCAAATAACTCTTTCCTCATGTGTATGGTGCTCCTCATGACTCGTCTTGTATTTTGCCTTTCTGATACCCATCAGAACTGCTGCTGCTCTAACTTATACTCTTTACCTTGCCCAGATCTCCGCGTAAGGAATGCTTTATGATCAACTTGCCATAGGACTGATGGATTAACCAGTGTTCGGCTTTATTTGAAGTCTATGCCCTGCACAGCTCTTGTATGTATTTTAGATGCTAGAAGTTTTTTTAGCATGTGATGTGTGATTCTTGTTTGAATTCTAGGTACCTTGTGAATTCCAGAAAAAGAGACTGTGCTTCACGATTGTTAGTCCCATGAACTTGCACTATCTATCTTTCATGGTGATGTTTTGAAAATACAATCAGGAAAAAACCCAACACCTTTGGAATTTAAAATAGAATCATATCATGAAATTTAAAAAGAATCTCTTCTGTTGCATTTCCTCACCCCTAAGTAACAGCTACATTTAAGTAAAATGCAGGTGGTAGGGGAAAAAAAACCATGGCGAGATGGTGGTTTAGTGGAATAAACTGATTACTGGTTTTTTTGTTTTTTTTTTTTTTTTTAAAGAAAGAAGCTTCATCACAGATACTTTCCAGTTTCTCTTTTATACTTTTTTGAAAGATTACTTTTTAGGAACATTTGGTATGATATGCATAAAATTATTTATCCATTTATGGGCAAAATGATACAAGTAGCATCTTGATTGAACATCATTTACCTCAGATATTCAACCAGCAGTACGTTTTTTATGCAGTCTCAACCCATATCCCATTTGTTACCTCTCAGAATATTGGTAAGCAGTTATTTTCGCTTTACTCTGTATTTCTTGTGTTTTGGGCACAGGTTATTGTACTACTGTCAAATCGTACTTGCTATTTTTTCTGCAAGTATTTAACAGAAAGCTTAAAATCCCCATAAAACCCCACCTTGGATAAGTGATTGTTAAATATTGTACAAATAAAATGTATGCTATCCCCATTCCATCCCCAAGTTAAATAAAAAAATGAATACGGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989-ACVR2A:NM_001616:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.031
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(14.9=100)
A:
NA
C2:
PF0006920=Pkinase=PD(10.1=44.6)
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:
GAGGAAATTGGCCAGCATCCA
R:
CAGCTCCAGTTCAGAGTCCCA
Band lengths:
344-1262
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)