HsaINT0003378 @ hg19
Intron Retention
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor, type IIA [Source:HGNC Symbol;Acc:173]
Coordinates
chr2:148680542-148683730:+
Coord C1 exon
chr2:148680542-148680680
Coord A exon
chr2:148680681-148683599
Coord C2 exon
chr2:148683600-148683730
Length
2919 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
3' ss Seq
TTACTTTTCTTACTTTTCAGGAC
3' ss Score
12.38
Exon sequences
Seq C1 exon
GTTGGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATG
Seq A exon
GTAAGGGAAAAAAATATTTTTAAAAAAGATATATATGCCTACCACACATATATGAAAAGGGATGATACACTCCAAGGTAATATTTTAAAGTACAGTTTTTTTTTAATTGACTCCAAGAGATGGTAGAGAATTCAGGAGGCAGGGGAGCAGTGGGTGGGGTAGGAGAGGAAAGGAATTGCTATGTATTGATCCTTTACCATTACTAGCTATGTTGCTGGACACTTCACATACCTTAAGGTTATTTCCTAAAACGGTTTCAGAGGTAGTTATTATGCTTTACATATGAGGAAATTGAGATGCAGAGAAATTAAGTAGTTTGCCTACTTTAGCCTCAAACTGGTGAATGATGAAACCTAGATTTGAAACTCTGATCCAGACATAGGGAGAGGTCTGCTTTAAGGTCATATGGGTCCTGCCCCCCAGGTTAAAGGGTTTCTATTACTTGTTCTTGTTATTGAAGTCCATGTTCAAGTCTTATAGATATTTGCTTTTATTTATTTATTTTTCTGGGTAAATTTTCAGACGATATTTCCAGTGTGACAGAACTATTTTAGTGTTTCAAGCACTGTCTTTAGTACTCCTTCATAAGGTCTTTACTCTGTCTTCAAGTATGTTGCAGCATTTTTTGTTTTGAATAATATAAGGCAAACTTGCCGACTGCTAAACTCCTAAACAGATGTAAATGAGCTTGATCTGTTTCTTAAGTTCTAATTTATAATTGCCTAAAAACTTCCTGTGATTGTCAAAGACCATAGAAGAAATTGTGAATATTTTAAGTTATAACCAATGTAACCTATGTTACTAACAATATTTTATTTTCTGAGTACTGTAATAGGCTCTCGTTGTAGGACAGACTGCCACTGGAATATGAAATTCAATATAGGGTACTATTAAAGGGAATTTAATAGAGTGTTCAGAAATGGGCATTCTTCCAGGATTGAGGGATTGGCTTGGGAGTCAATGCCAAACCTAAGAAAAGTTGAAGCAATTTTGGAATAATTTCAGAAGTCTTTAGGAAGAAGCGTTAAGAACGCAGAGTGTTTTGACTCTAAGAGGAATGACATTTATGATGTGCATTTATGGAAGCAGAAGTAGGTTAGATGGCAGATGTTATAGGAAAATATATTTTATAAGAACTTTATTAATATGAACTCTCCATAACAAATCATTGGATTAAGTAATTTAGGAGACACAAGACCTTATTCTCAAGTAATATACAGTTTAGTTAGGGCAATAAAATATATCCTGGACAATTAACTCTAGAGTAAGTTAAGTGTGAGTTGTCTGGCCCATTCCCCAGTACATAGGTATTCAATAAATGTTTCTGGGTTAGTGCAATACTTAAGAAATACAAGCATGTGTTTTAGGAGTTTAGGGGAGAAATTGCTTTGTTTATGGGGAAGAGAGGTTTCAGAGAAGTTCTTTTGGAAAAAGAAAAGGCTAGATACTGACTTTTCTTAAATGCCATGAAATAATTTCAGAGTCAGGCATTTCTGACTCTTAAGTCAGAACCCAATTGTTAAGTCAGAAATTGGGGTAGAGAGGATAGTGTGAGCATTGATTGCTAAAGTAGGTGCTTTCACGTGTGTTGATGGTTACTTGTTTGTTAAATGAAGTAATTCTCAAACTTTAATGTGTCATACCAGATTCTTAGGAATCTTGTTAAAATTTAGATTCTGACTCAGTAGGTCTGGGTTGAAGCCTGAGAGTCTACATTTCTTAAAAGCTAAGCTACCAGTTGACGGCAGTGTTGCTGGCCTGTACACCACATAAGTGTTGAATAGACACCTTAGAATGTCGGTACTTTGTCACTGGAAGTACTCAAGCAGAGACCAACTGTCCAGCCATAGATAATTCTTATATTTGAAGAGGGTTAAGTTAGATGACCCCTTTATGATTCATTGTATTCTACCCAGGAGTATTTAGTGCATTTCAAGAGCTTCACAAAATTTGTGTTTATGCACACATACATCTATCTGGTCACTGATACTGCTCAGTGGTGACCTGTGTCTGTCAAAGGAAGGCAATCCAGTGATTAAAACCAGACTTCAGAGTTATTTAGAGAGTTGGGTTCAATTCCAGCTCTACCGTTTAACAGCTGTATGTCTTTGTGCAAATTATGTAACTTTTCTGAGCTTCTTATCAGTAAATAGAGGTACTGCCATCTTAACCCTGTGAAGTAAGTAATATATGTAAAGTTTCTGATCAGGATAGGTGCTTACTGGATGTTAGTTATTATTAACTCCTAAATACAATTTTCTATTTATCTGAGTAGGCCTAAGAAAAAAGGAATTATTTATGTTGTTTAATGTTGTCTATGAAGGCACATCCTGACTTGTTGGGACCCCTAGTTGGAGAGCCTGTTTGTGATTTTCTAAAAAATAAACATGTACTTTTTGGCAGCTGTTGTGAGGGAGTGTAGAGAAGAGGTATGACTCTGAGGTGCATAATTCCTCATGTGGGGCATGCAGGGGGTTTGGATATGCCATAGAATAAACATGGTTATAATAGATTGAACCTAGAGCCTCCAGAGCTGGAAGCACCACTGTTAACATTCTGATCTGAATTGTAAGGAATGGGTACCTTAAAGGGATATTATATAACGTTAATTTACAAATACTGATTGTTCCTTATGTCCTCTGTGCAGATGGAAATAGGCATCCTTTATACCTAGATAAGAAAGCCCCTTATGCAATCTTTAAGGGAATTACATGCCAAATTATAGGCCTTTTCATTTCCCATACATTAGTTTGGTCACACTGTGGTATAAGTACAGTTGAGAGTCTGTTTCTCTTCTGTCCTCATAGCATGTAAACAGTTGGGAATAGGTGACAGAGTATATTTTAGAAAGTTTGTACCAGTTTGAAAGTCAGGAGGATTTTAATGAAAATGATTTATTTTACTTTTCTTACTTTTCAG
Seq C2 exon
GACCTGTAGATGAATACATGTTGCCATTTGAGGAGGAAATTGGCCAGCATCCATCTCTTGAAGACATGCAGGAAGTTGTTGTGCATAAAAAAAAGAGGCCTGTTTTAAGAGATTATTGGCAGAAACATGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989-ACVR2A:NM_001616:9
Average complexity
IR-S
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(16.0=100)
A:
NA
C2:
PF0006920=Pkinase=FE(14.9=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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)