HsaINT0003340 @ hg38
Intron Retention
Gene
ENSG00000115170 | ACVR1
Description
activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171]
Coordinates
chr2:157778131-157780600:-
Coord C1 exon
chr2:157780337-157780600
Coord A exon
chr2:157778343-157780336
Coord C2 exon
chr2:157778131-157778342
Length
1994 bp
Sequences
Splice sites
5' ss Seq
AAGGTTCCC
5' ss Score
-0.59
3' ss Seq
CCTTTTCCCTCCAACTCCAGGAA
3' ss Score
10.5
Exon sequences
Seq C1 exon
ATGAGAAGCCCAAGGTCAACCCCAAACTCTACATGTGTGTGTGTGAAGGTCTCTCCTGCGGTAATGAGGACCACTGTGAAGGCCAGCAGTGCTTTTCCTCACTGAGCATCAACGATGGCTTCCACGTCTACCAGAAAGGCTGCTTCCAGGTTTATGAGCAGGGAAAGATGACCTGTAAGACCCCGCCGTCCCCTGGCCAAGCCGTGGAGTGCTGCCAAGGGGACTGGTGTAACAGGAACATCACGGCCCAGCTGCCCACTAAAG
Seq A exon
GTTCCCATGGACTTTTCTATTTCTAGATCAAGGGGTTTTGTTAGTGTTGTCCTGGGTCCGTGTGGGTTAAAGATCTAAGTAGCTATGAGGCATTCCACCTACATTTTGAATCAGAGGCGAAGAGCTACAAGGAAGGTCACCCTGGGTGAAGAAGAGAAAGGAACAGCCTTTTGGCATCTAAAAGAAGGATGGGCATTTTGGGGAATGTAAGCAAGGTGATGTCCATCTTGGGGACAGCTTAGCTGACCAGTTAGCTTTCTCTTGGTTGCTGTGACTCAGGTGAACAGCTCCCAATACCTTTTTATGTTACTGACCCATGATGTCATTCATAATTTCTGAAACAATTCTGCTAGTAAATACTCATCTCTGTGTCAAGTGTGTAGGGAGGAAAACAGAACGGACTGGTGACTGAGTGGAATGCCTTTCCTGTTTTATGAGGAAGGAGATAAAAGAAGGCTCACTGACCTCTTCTCCCATATCTGATGCCCAGTGACCCTATCACTGAAATTTGAAGCAGGATGAGATTTCGCACAAACCCTGTAGTTTTTGTGGAATCTTCTCTCTACCATCAGTACAGATTGCATATGCTAAGGAAACCAGTCCAGCTCTGAAACTGTTTCCCTATTAAATGAGCCCTAAATTGCAATCTTAAAGTCTCTGCAAACATTTATGTAAACTCATTCCAAGCCAAATTTATTCTCTTACCATATAGTACATTTTTAATAGGTTTAGTTATTTAATTTTGCACTCAGAAAAAAGAAACAAACCAAAAAGTGGAGGAGAGGTAACGACGAGCATCCAAAACTAGAAATGTCAGCCAGCAAGAAAGGAGGCAGAAGAACAAAAAAGCTGATGCAAGATCATGTTCTAGTAATTTTGAAGTTATGGTGATGACTTTAAGGCATATGGAAAAGGTTAAATTCTGACAAGCAAATAGGATTGAATAATCAAAGAGGGTTTTAAAGGAGATCAAGTATTTACATGGTTAAAACTAAAAGGGTCCTTGATGGAATAAAATTTACTGTTATACTTTGTGAGTTAAATTTTTATTAATTGGGTGGATGGACATAAACAAATGTCTGAATTCATACAAACATTATTATACCAACTGTGAAGTTTCTAATCTGCAGATCACTCTGCTAGACCTTGAGTTTTAATAGAAGATTTTTTTTTTTGAATTTAAGGACATTCTAATCTGATTAGCGTGGCCACAGTATTTATAATTCAGCGTTGCATTTTGTTAGTTTTACACTTTCTCATGCAAATGACATATGCCATGGAGTATGATGTATGCCAAGCTGTTGATTAGTTGGGCTTGGAAAGTTAAACAAATACGTAAAGGAAGTTAAGCTTGTGATTGGATGGCTGAAGAGACCAGTAATATGGAAATGGGTAAGGCCTCTGTAGGGAAGAACAGGGCCTGATGACATAATGTCATGGAGAGGTCTGAACCCAGGGAGTGAATCAGTGAATGAATGTCTGAATAAGCGAGTAAATGAAGAGAGGAATGAATGGGTTCCTAGGCAGAAATTGTGATGTAAAAAAATCAGTGAGAAACCAGCAGTAGACACCCAGGATATATTAAAGACAGAGACCACAGATGGGTAATTTGGTTTTAGCTCAGGTAGCCCTTTCTCTTAAGGATAGTACAGTGTCTGTAAGGGCTTGATGGCGAAACATACCAAATCCAAGTTAATGAGAGTAATATCAAAGATTTGTACAGTACTTTATATTTTAAAAGCACTCTCACATTCATACATTAATGCAATTGATTCTCAGTGGAATTTTTTCAAATTCTAGTTGTGTCTAATTGAATGATGGTTAAAATGTCTGGGCCATTGGCCAGGCATTAGGAAGTGTTTTAGTTTTAATACTTCGTGAGTTGTGAGACTGTGTGGTCAGGATCAGGAGCTACTTGTTAGGATATTGGTTATGCTAATAATAAGTAAGCAGTGATCCTTACAACTAATTCCCCCTTTTCCCTCCAACTCCAG
Seq C2 exon
GAAAATCCTTCCCTGGAACACAGAATTTCCACTTGGAGGTTGGCCTCATTATTCTCTCTGTAGTGTTCGCAGTATGTCTTTTAGCCTGCCTGCTGGGAGTTGCTCTCCGAAAATTTAAAAGGCGCAACCAAGAACGCCTCAATCCCCGAGACGTGGAGTATGGCACTATCGAAGGGCTCATCACCACCAATGTTGGAGACAGCACTTTAGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115170:ENST00000263640:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=WD(100=84.3)
A:
NA
C2:
PF085157=TGF_beta_GS=PU(10.3=4.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCAACGATGGCTTCCACGTC
R:
AACATTGGTGGTGATGAGCCC
Band lengths:
351-2345
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