HsaINT0003377 @ hg19
Intron Retention
Gene
ENSG00000121989 | ACVR2A
Description
activin A receptor, type IIA [Source:HGNC Symbol;Acc:173]
Coordinates
chr2:148677799-148680680:+
Coord C1 exon
chr2:148677799-148677913
Coord A exon
chr2:148677914-148680541
Coord C2 exon
chr2:148680542-148680680
Length
2628 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
GCTTTTAACATCTTTTTCAGGTT
3' ss Score
9.59
Exon sequences
Seq C1 exon
GGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAG
Seq A exon
GTAAGGATGATGATTATAAAATGTAAGAAAAAATAAACTTGTTCCATATTTTCTTAGAATGGCATGTCAGGACTGAATTAGTCTAAAATTGTTGTGGTGTTTAAATCAGCATCTAATAGAGTTATCAAAGTTTCTGAGGAAGACATTTTCATATGATGGTAGAGGACTCAGGTGGTTTAGATCAAGCACTTCGTAAAGCAACCCTTAGACACACGTCATAGGATTCTTTTTGAAAAATTGATCAAAGAATAATCCACCACCTTTTAACAGACCTCATTCTTAGGGAATTCTTCGTATGAACTCCGTAGTTTTAGTCTGTTAGTTCTTTCACCATCTTAAGAAGAGTGGAAGAATAATTAGTCACTGTCCTTACTACAGTGTATTAAGATTTCCTGTCCATTTTCCCATGCAATAATAGTTTATTGCTTCTTGTTGTTTATTGCTTCATTAATTTCTTTAATCAACTTGATGGCTTTTCTCCAAATTCTCTCCAGAGTTCAGAGCACTTGTAAACCCCTGAATTAGGTAACTCTTCACACCTCTGTATATATCCATATGCACAGAAATCTTAGTAATGGGAACCTCTAGGAAGGCCAAAAGGGAAAAGAACATTATCCATACAGTTTATTCTCAGAAACTTTGAGGCTGGAAAAGATGTTTTCATTCCTGCAAGATCACCTTTTATTTTTATTTATTTATTTATTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAGCCTCTGCCTTCCAAGTTCAAGTGATTCTCCTGGCTCAGCTTCCTGAGTAGCTGGGATTACACACATGCACCACCATGCCCAGCCTAATGTTTGTATTTTTAATGGAGATGGGGTTTCACCAAGTTGGCCAGGCTTGTATCGAGCTCCTGACCTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCAAGATCACCTTTTAATCAGGGAAACCAGTTCAACCTAAAAGGTGACATTTTCTACAAAGCTAAATGGTTCAGGCCTTCGACATTATCATTTCTTCATCTTTCATATCATGTAAATTATTTGGCCAACTAATTCTTAGGTTTCTTTTCCCCAGCATATCCTATTGGTTCCTGAGGACACGTTTTTAATGTCATGGCACCACCAATTTTGGCAGTATTGACTAACTATTTAAGAATGTAGTTTGGGGTAATGGTCAGTAGCCATATAGCTCTAGAAAAGTTGACTGCAAATGTGTATGGGAATGGAGGCAATTTTGTGGAGAATACTACCAAGATTGTGTAGGAAGCCTGAGGACAAACTTCTAAGCTAATTGAATGATAGACTATCATAAGACTAAATTCTGGGAACATATTCTTAATTTGGTACCTCATAAGCCCTCCCTCATTTTTTGAGAAAAAAAATTTCTGACTCATTCATGTCATATTTTTAACTCCTTCACAACTGGGTTTTATGATTAGTTAAAAATTATTGGCTTACAGTAATGACTCCTTGACTTTAGATTTCATGGACCAGAAAATTTCAGAAATATTTGGAGGGACTTGCATGTTATTGCACATTTTATATAGTACAAAGAACACATATAAAAGAGGGAACATTTTATGTCAACATGGTAAATAAACCATAATCTTACAATAAAAGAGGTAGGTACCTTGGATGGCATACATTTACCTGTAAGAGAAAAGTAGGCTTTAGGGAAACATTCACTGATAGCACAATTAAAATAATTATTCTGAGTAGTAAATTTTTTAAAAGTAGAGCCACTTTTCCCTTTAATGTGTTCTCCTTGAACTTTAGTCTTAGTGATCTGTCTTTATTCTTAAAAAAAATCTTTACATGTATATTTGCATAAATTGCCCAACTTTTAGTCTAGAGTAGAGATTATAGCCACCTAAGGATGGAGCGTTATGGACGTACCAATATCTAGACTACTCTCTAGTTCGAATACATCGCAAGTATGTTGTGATGTACCCAGCTATCTCACAAATATTTTTAAGCATTCATATATGAATGTTGTCAAGCACCAACCAAAGCTAGCTGTACTAGCTTAGTAACCATAGTTACAGTACTAAGAAATACCAAATTGTTGGGGACAGTTATAAATAAAGGACTCCAAGACAGAAGAATTTATGAATAAACAAATACATAGATTTTGTACAGATAGAACTTTTTAACATCAGTCTGTCCTTTACTTAGCTAATTCTTTTTATAACATTTTATTAGTTTTTTTAATACAGAGAAAAGACCTCAAAAAAAGTTTTTTTTTTAAAGCTACATTTCAAACAGTATGCAAAGGTACAGTTGAAAAGTATGCAGCATCCTTCTCCCAGCTGACAATTGGTTCAGTTTCTTGTGATTACATCCAGAAAGGGGAACATAAAAACTTCTAAGTCTGTACCAGCATAATGTCTGTTGATATATTTTTTAAGTATACGCAGAAAGGATCTTTCTATTTATACGCTATAGTGTGTATACCTTACCCTGGTAATAGACCACATTTGGTTTTGATTCATCTTACAAAATCATATGTTAGTTCATAAAGTTAATGAATGAGTACTCTTTGCTTTTAACATCTTTTTCAG
Seq C2 exon
GTTGGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121989-ACVR2A:NM_001616:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.051 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(13.2=100)
A:
NA
C2:
PF0006920=Pkinase=FE(16.0=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)