HsaINT1002719 @ hg38
Intron Retention
Gene
ENSG00000123612 | ACVR1C
Description
activin A receptor type 1C [Source:HGNC Symbol;Acc:HGNC:18123]
Coordinates
chr2:157550162-157556332:-
Coord C1 exon
chr2:157556093-157556332
Coord A exon
chr2:157550393-157556092
Coord C2 exon
chr2:157550162-157550392
Length
5700 bp
Sequences
Splice sites
5' ss Seq
CTGGTATGT
5' ss Score
8.14
3' ss Seq
TCCATCTTTTCTTTGGTTAGGTC
3' ss Score
8.66
Exon sequences
Seq C1 exon
CATCACCAAATGCCCCAAAACTTGGACCCATGGAGCTGGCCATCATTATTACTGTGCCTGTTTGCCTCCTGTCCATAGCTGCGATGCTGACAGTATGGGCATGCCAGGGTCGACAGTGCTCCTACAGGAAGAAAAAGAGACCAAATGTGGAGGAACCACTCTCTGAGTGCAATCTGGTAAATGCTGGAAAAACTCTGAAAGATCTGATTTATGATGTGACCGCCTCTGGATCTGGCTCTG
Seq A exon
GTATGTTACCATTGTCCATTTTTTTAAAATAAGAAAACACTTTTATTTAAAAGTAAATAAAAACTTTTTAACAAAAAGGGCCCAAATATTATGAATTCCGTCTTGAAAGGATACATGGTGAGCTCTGGTATAGGAACTCCTTTTAGTACCTGAGGAAGAGAAAAACCATCGTGGCCTATAGAATTAAGTCTTCTCAGTTGCTTTTTGTAGCTTTAGGTGTTCAGATTCTTACATTCACTTTCCTTCAGAATTTATTTCTGAAGCAAAAAAGCAATTTCCCTTCTCTCCTCCCTGCTTCCCCCCATTATGGTTACTAACAATCACTGTTGCTTTGTTGATAATGTTTTATGGACACAAAAGAGTTAGGGTTGTGGTATTTAAGGTGTTGAGTTCTGAGGGAAAGATGTTGGTTATACAAAGTAGTGTTCTTTGAGCTCTTTTGCTTGTGGGTATGAGGATTTTCAGAATCTATAGACACCCCCTGAGATGTGTGTGAAGCTAACAGGGAACTCACCTAAAATTAAATCAAGAATATGTTCTTAAAGCAAAGAAACAGAAGATTAAAGAGAGCAGTGCAGCATTCCTGTGCTGGCTTTTGCTGGCTGTGGTTACATACATGACTGTCTTCCTCTTTAATGGAACTCCAGAACCCCAGGTAAAGCGTTCAAAGTACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGTTCAAAGTACCAGGCTGTATTATAGCCTAAATGAGCCTTTCTCACAACACAAAGCATTTGAAGGTTTTTTATTTTTATTTTTATTTTTTATTTTTTTATCTTTTGGCAGGAGGTTGGCGGAGTGGGGGGACAGTTTTCCCCAGAATAACAAACTCCCTAAAATGGTAGGGGATTCCATATATATATATATCCAGAAATCCTGCCAGCTCATGGTTTATGAAAATACGAACAAGAGTAACCCTAGGTGAGCCACTTCAGAGGCCCCTGCATCTCTTCTTGTTTTGGAAGGATCATTAAGATAGTAGCCCAACATTCTGAAGAACTCCCTTGCCAATGGCTTTCGGGAAAATCCAGGCAGTAACAATTAACAGAGGTAGGCAACAGAGGGCTGATAACATCTCTATGTGCATCCATATTTAGCATGAAGCTGCTTTGGATTCATCAGAAAAGAAAAGCATAATCAAACCCAGATAGTTCGCTCCTTCTGGGGCAAAATCACCTGGCCTCCCACTGACGAAGACTAAATGTTTACACCATCACTGTACACATTAGGTAGCATCTTTCAAAGGAAGAATACTGGTAAGAAAACCCCCAAACTGCAAAGTTTTAAAAACCAGAATTTAAATTAAAATAAATTATTGGCTAGACGACTGGCACCTTCCTTCCTTCCTTCCTTTGTCTCCTTCCTTCCTTCATCTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTCTTTCTTTTTCTTTTTCTTTTCCTTTCTTTCTTTCTCTCTCTCTCTCTCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTCTTTATTTTTTTTTTTTCCAGATTCTCACCCTGTTACCTAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCTCCCTCCTGGATTCAAGTGATTCTCCTACCTGAGCCTCCTAAGTAGCTAGAATTACAGGTGTGCCCCACTACACCTGGCTAATTTTTGCATTTTTAGCAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCTGCCTTGGCCACCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCACATTTTTCTTTAAAATTAAAACTTGTTGATATTCAATACTGTTTCCTTCTTTGACTCTGACACTTTGAGGCCCACTGTGCCCTGATTTCTTGAATATTGACAACATTCTAGGCACAGAGACCTCTGATTTATGGCAAGTTTCTTGAAACCTTATATAATTTCTTTATAAGGTTCAAGAGGTTAAATAACTCTCTGCTTAATCCCCATCCCCAAAACCATTTTAATTATCTGAAGATGTTAGATAAAAACGTGCATTTTGGAACTATTCCTTAAATACATTTAAGATAACCAAAGATTTTCCTTTCAAATGAAAGCAATTCAGATTTTAATGCTAGAGACTGGGATTTAGTTTGAGAAAGTAGTCATGGGCTAGGGCAGAAATCAAAAATTAATGTTACATTTTCTGGTGTTTTTTGCATGTTTAAACCTAAATCTGGAATTACTGATTCTGGACTCTCTCGTTTTCAGATTATTCTAAGATCTCTCATTTAAAAAAAAAAAAAGTAGTAAATGTACCCAAGCATGGATGATTTCTTTAAATACCAATCTGAAAGAGCTTTAGGCATTTTTCCCCCAAAGCCAGTTGCATACGTTTGGCAGTGACCAGTGGCTGAAAGTAACAGAAGGCCTCCCTGCCTTTGATAATCAGAGAATGGGTGTATCCGCAGTGAGGCTTCAGTCATAAAAGCTCACCTGTAGGGAGGGGATTGGAGGAGGGGGGAGTCTGATTCCCTCTGCTTTTCTTAATTGGCCAGTAACTTTAAATGTGAGACAGTTTGTCAGATGCTGAGGAACAAAAACTGTGAAGCGTATTCTTGACCTGGTCAGGGACAAATTTCAAAGACATGCATAATGCCTGCAAGAGGGGAAAATGGACTGATGAGAAATGATGGTGTCTCAGATGGCTTCCAAGAAACTGGGTAGGTTGCTGCTTTTCTCTTGTGGTGTAACAATTCTGACTGATGGTGACATTATTGAAAGCTAACCTTCTACACCCCCTGGTTAAAAGATTGAAATGAACCTACAGGGAGAAGCAAAAATCCATGTATCTTCAAATGAAATGTCTAGGTGCATAACAGAAGAATTAGATTCATTTTGGTGGTTGCTTTGAAAGATACCAAAGCAAATTTTATTGAGTTTTAATGTCTCAATTTAATTGCTGTCTCGAGTACTTTATATATTGTTGTCTTACTTTGTTCCTGATCTGCACCACTGATTATGTACTTGATTAATTTGCAGTTTGAAAGCATAAGCTTATCTAGCTCTCCATCCATTTGTTGTGTTTTGGGTAGTGCTGGTTGTTGGTAGTGATGTTTCTGTGAGTGTGCATGTATGTATGTGGATAAGACTATAGGTTAGCAGGAGGAAGGGAGAGACTGAGATTGAGATTTGGCCTAATAATTGTTAGCATAACTTTTAGTGTGTGGTCAAGTAGTAAAATTGATTGTTGCCTGCAAAAACAGTCCAGGCTGGTTGCAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCTTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGATGTGGGAGAATCGCTTGAACCTGGGAGGTGGAGATAGTAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGACAGAGCAAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAAACAAACCAACAAACAAAAACAGTCTTATAGTTTGCTTCTAGACAGGAACAGTTTGCACTGAAGATCAGTGTTTTAGTTCTAGGTCTGCCTCTCACTAGCAGCATAATCCTGGGAAAGACTTTGATTATCGAGGGGCCTCAGTTTTGCCATCTCTAAAATGATAGGGTTGAACCAGATAATTTCAAAAGAACTTTCTTCCTGTAGGGTTTTGTGACTAATTGTTGAGATCCGTAACAGCAGATTTGTAGTCTGTGCTTATTTAGCCTGTGCTTATATGTCCATATGAGAACATGTGAATGAACAGTGACTAGTTTTAGGTGCAGGGACCAAAGCCCCTGCAAGACAGGGTCATTGCTATGAGGGTTCCCTAGCTGTCTGAGTACAAAAACAGTAACTAAATGTGACTTTTCAGAATAAATGTAGACTGTAACCTCTTTAACTATTTTTCCTTTGATTTTAAGAGCAATAAATATCAATTGTGGAAATTAAGAAAATGTGGAAAATTAGAAAGAAGACTATCATAACTCACCCCGGTTTCACCAAGAGAAATAACCATCATAACATTTAGCATGCTTCCTTTTGAGTCTTATTTTCTGTGCATATTTTGAATAGCTAGATACACTTATATTTATAAGAATAAAATGTACTATGCTGTTTTTATTTAATATTATAGCAAAAGTATTTTTTCATGTTATTAGATACTTCTTCATAAGCATCATCATTATTATTGGCTCTGAGTAAGCCATCCTAAGATTAACATAATGTTAACCATTATTGAACATGTAATATGCCAGATACTGTGCTAGGTGCTGAACATGCTTATTAATTCTCATATCATCTCTGCGAGATGCGTAATATTGATTATCCCCAGTTTTTCAGATGAAGAAGCTGAAGCGCAGACAGGTGAAATAACTTGTGCATGATTACCAGGTGGCAGAGCTGAAATCTGAATCCGCCTGTGCTCTTAATCTCTGCACTTTATTTCACAATTATTCCATTACCTGACACTTTTACTTATTTTATTCCTATAAATAATAATAAGATATTAAACATCTTGACATAAATTTTTCTACATTTTGCATTAAGTATTTGCGACAGAATTCTAGAGGTGGAGTTAGTAGTTCAAAGAATATAAGCGTTATACATACATTCAGGATATATTTTCTTTGAAAATTTTTTTTTGTTCTGCAGAAAATATTCATTTGATATCTTATTTGACTATATCTTGCTTTTAGTGTAATATCATTATCTCACATGATCATTGTATTTGATTCTTCACTTTCCAATTTGAGCTTGGTTTTTGAAAAAATTCACAAATAATTATTTTGCTCTTCCAGTTGTACCAGGAACCATACATTTTATTTTAGAGGCTAACACTTCTTTTTTTTTTTTTTGCTTTTACTCTTGTGTACTTAGTAACCTGACTGGCTTTGATGGGCAAATGAAGGAGATTTGCAGCAATTCTTGGAAATCAGATATCTGTAGCAGCAGGCTATGTTCAAAAAATTTTTACTTGTGAATACGACAAGACAAATTCATATTCATAATTTGAAGTATTTTTTTCAGCATGCTTTGACATTAAATAAGTTTGCTATAATGGTACTTATTCCTTCAAAATAGATAAAATTATTAAAGCATTTAAATGTTTGCTTTTTTAAAATCTGAAAACAGTGATTATTGAGAGTTCTTTTCTGACATTTGTGTTTAATTATCAATTCCATCTTTTCTTTGGTTAG
Seq C2 exon
GTCTACCTCTGTTGGTTCAAAGGACAATTGCAAGGACGATTGTGCTTCAGGAAATAGTAGGAAAAGGTAGATTTGGTGAGGTGTGGCATGGAAGATGGTGTGGGGAAGATGTGGCTGTGAAAATATTCTCCTCCAGAGATGAAAGATCTTGGTTTCGTGAGGCAGAAATTTACCAGACGGTCATGCTGCGACATGAAAACATCCTTGGTTTCATTGCTGCTGACAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123612:ENST00000243349:3
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=PU(58.6=21.0)
A:
NA
C2:
PF085157=TGF_beta_GS=PD(37.9=14.1),PF0006920=Pkinase=PU(22.2=82.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
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
- Autistic and control brains