HsaINT0003342 @ hg38
Intron Retention
Gene
ENSG00000115170 | ACVR1
Description
activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171]
Coordinates
chr2:157770368-157774187:-
Coord C1 exon
chr2:157774088-157774187
Coord A exon
chr2:157770515-157774087
Coord C2 exon
chr2:157770368-157770514
Length
3573 bp
Sequences
Splice sites
5' ss Seq
TCGGTAATT
5' ss Score
7.06
3' ss Seq
CTATGTTTTGCTTTTCATAGGGA
3' ss Score
8.7
Exon sequences
Seq C1 exon
GATTTATTGGATCATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCG
Seq A exon
GTAATTCTTTTTTTTCCTTTCTTTGTGGGTAATATGCAATGTTAGTTTTGTTTTTGAAGTAAAAGATGGAACTTGGAAAATCTGCTTTTTGTTACCTGTTGTTTCCTTATTAAACTTATGAGATGTGGTCTCTATTCTGTATGACTAATGTTGGAGCACCTGAACTTGTTTAAGCTCTTATCAAAGGAGTCCATCACTAATGAGTACAGAGAATGCAGAGTCAAAAGCTTTCAGTTGTAAGTGGACCCTTTGGGATGATGAGAGAATGCCCAAAAAATGAATTGATATGGTTGCTCCTTACCATAGGTATTGGATACTCTGAAGTAAGTAGGCTTTTGGACAATGAACTTCTTTATTGCAATTCTTTAATTCCTCTCATTCTTTTCTTCTTTTTAATGGCAATAATTAATGAACATAATTAATGAAACCAATTCTAGCAAAGGGATCTTTATAACTCCTTTATTTAAATATGAGCTATATACATTTCTCCATGGCCTCTCACATTTTCCCAATACATGAACATATTTGTATGTAGACATAATCATGTTGTATATATAATTTATGTCCCTTTTTTCAGTTTTAAGCTCATAAACATTTCATGTGTTTGTACACATCACAAATATTTTTGAAGATTATGTAGCAGTCCGTGGAATGATAGTGTAACTATAACCATACTGCTTGAAAAAGATTTTGCACACATTGCTTCTTTCTTTTGAGTTCTCAGAAAAAATTCCCAGGAACTGGGGGTTCCTGGGTCAAAATTTGTAAATGTTTTTTACAGCTTGTTTTATATGCTGCTGATTGGCTCTCTTGGAAGATGGTACAAAGTGCCTATTTCCTGATTTTTGTTAGCTTTACTTTTATGTGGTAGGTATTTGCAAGTTCCATAATCATTTTCCTAAGTTTCTCTTTTAGACGGCTTGCAGGGATGGCTGCAGTAGCAATAATGGGTTGGCAACCTCTCCACACCCTCCTCCTAGTGCTCATGGTTTCCGAGGGCTGGATTTTGCAGCTCCTGCCGTTGCATCTTTTGCTTTTGGGAGGTGACCTATAAGCTGCCCCCACCACTTGGCTGCTGTTCTCCAGATTTTCTTCTTGTTTTCATGGAAAGAGGGACACCCCCAGTCTGAGTAGTAGAAACGGGGAAGGGCAGAGGTAGGAAGAGCAGTGGCTGCTGCCCCAAGGCACAGGAGTAACCAGCGGGAGCTTGGTTGTCCTTTCTCTAGGTCTACGGCTATTGTCACTGTTTGCTGCTTCTCGCTTCTCCTCCACGGCAGATTGTGAATGGAGAAAATAAAGATGGAAAAGCCCCAAATGTGCTCATTAATTTCAACCAGAGTTGTCCTCTTGTACTAACTAGTATCTTATTTGATTATGAACAAGATTATCTGGATAGTGGTGGGAAGACATTGAAGGGGTACATTTCCCTGTCTCATCTCCCCTCTCCACTACTATTCCATGCAAGCTATCTCAAGATTAGTCTTCAGAGATTGGCTCCAGAGTCCAAATGGCAAAATAGTAATGCACCTTTAAAGTATGTAGTTTCTGGTTCTATAGATATTCCTCAGCATTCTTTTGAAACAGTATAAATATCATTATTGCATTTTCTTGGGTTAGGACTAAAGACTTTAATAAAAGCAGTGCCTTTCATTAGCTTGTAGTTAGTGTGTTCATGTGGTACAGCTTTTAGTAAAAATATATGTGATGAACTGCATGGATGGTATGTTATTTTTGGTTCAAAAACATGGGAAGTTGGGTTAGGGGAGTCATTTCTGGATGACGATCAGTGAAACTACAAATTTCAGGTGCCTTAAGGGAGCCTTTTTGTGGGGCTCCATGGCCAGGGCTTTTGGGCAGCTCTGCTTTTGTTTTAGGGGCTTCTGCATAATGATGAATTTGCAAAAAGCATTTAACAACTTAAAAGCATTTGAAAACCATTGAACAATATTTCTATTTTAATTTACCTACCTCGACATTCATCTTCTGTTTTCTTTAAAACAACAACCAAAAAAAGGATTTGAGGTAATTTTGTATCCATAATTCCCTGGGATATTTTGCTCTCATCCCTAATGACAAAATGAGGACAAAGGGAAAATAAAGATACAAAACAGAACCAAAGGCAGGAAAAGATTAGCATACCATTTTCTGGCAGCCAGTATTTGTAGTATCTTAGCACTAGGCCTCATCTTGAGCTATAAATGCTGGCAAATTGCTATGGCTTTATTAAAAGGAATCGTGTACTAAATTATATTTGTGTGACCCAACAGTGGCCCACAATGAGCACTTGTTAGCCACATTGAACATCCTTTTGGGTTAGTTGTTGGTATTTAATAGGGACATGATATTCTTGTCAGGTAATCTAGATTTAGTGGTTGTGATTATGATTCAGGTGTGTCTCCTGGACAGAACTGCTTCTCTCTCCATGTTTGGGTTTTCAGTGACTTAGTGTTCCAGCAAAGAACTGTATTCCTGTATATGCAGGTGGTGCTGCAGCTGCTTATTAGAAGCTGTGTGATTCCAGCAGTCACTTGCCTGGGTAGAAAGCCCCACTGCCCTGCAAGTTATATCTCTTGCCTTGTTATCTAGGCTGATTATACCCCTTGTTGATCCTCATAGTCTTGTGGTAATTACCTCCTCCTCCAACCTCCCTGATCACCCCTACCTATAATTAAAGAGAAGAATGGAAGAGGGAGCATGTAGTTGACAAGCTGACAAGTGTGTTGCTGCTGCAAGAGGGGGCCATGCACCAAACAGATTAGATCACAAGTAGAGTTGCCACGTTTTCCAAAATGTATTCTCCAAGTAGCCTTTTCAGTGTAGCCCACTTGTAGCATCACAGGAGCTGTCTGACAAACAAATACCCATGACCAGTATCAGAAGAAGTCAGAACTCTTCTGGGATTATGTATTTAAGACTTTGCAAATCCTCTTTTTGAAATACATCTTCCGCCAAGAAATCTTTATGGATGCAGTGGCTGCATGTCGATCTTCTAGCAGCATTGTGTTTTGGTTTGTTTTTGTTTTTTAATCCTTAGAACACACATTTTAAACTTAATTGTTCTCCTTTGTGGAAAAAATGCATATCTAAATTCACCAATTTGGACAGTGCCTATGTTGATCCTGTGTGAAGGGAAGGAACCAAGGAAGGAATTCAGTTTACTGATGTACACTTTTTTGGCTTTCAGAACACAATTGAAATTTAATAATCTGTACCATTTCCTAAGTTTTACTTTCATGTGTTTTAAAAGTCATATGCATTTTATACCTTTCAACAGAGGAATTTAAATGTAAACTGAGTAATTAGCAGCTAATTATACAATGCAGATACAGAAGGCAGTTTGTTATCACAATATGGTAGATGAGAGGGGCAGCTTCCACCTTATTTTTGTATGTCTTTATAGGCCAAAAAAAATAAAAAATAAAGGTTGTGATATTTATATTCCCAAGCTGAGTTTCTCCAGTAAGCAATGGAGGGATTAAGAGTTGCATGCACTAAATTAATTATTCTTAATGATGGGCTGGCTGCCTCCAAAATGACTACTGTTCTGTGTCACCTATGTTTTGCTTTTCATAG
Seq C2 exon
GGAAAGGCAGGTATGGTGAGGTGTGGAGGGGCAGCTGGCAAGGGGAGAATGTTGCCGTGAAGATCTTCTCCTCCCGTGATGAGAAGTCATGGTTCAGGGAAACGGAATTGTACAACACTGTGATGCTGAGGCATGAAAATATCTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115170:ENST00000263640:6
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=0.000
Domain overlap (PFAM):
C1:
PF085157=TGF_beta_GS=PD(82.8=70.6),PF0006920=Pkinase=PU(2.4=20.6)
A:
NA
C2:
PF0006920=Pkinase=FE(17.0=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