HsaINT0003349 @ hg38
Intron Retention
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51976327-51981199:+
Coord C1 exon
chr12:51976327-51976575
Coord A exon
chr12:51976576-51980968
Coord C2 exon
chr12:51980969-51981199
Length
4393 bp
Sequences
Splice sites
5' ss Seq
CAGGTACCA
5' ss Score
7.88
3' ss Seq
TCCTATTCTTTGGTTCACAGGGT
3' ss Score
8.87
Exon sequences
Seq C1 exon
GTCACCTCAAGGAGCCTGAGCACCCGTCCATGTGGGGCCCGGTGGAGCTGGTAGGCATCATCGCCGGCCCGGTGTTCCTCCTGTTCCTCATCATCATCATTGTTTTCCTTGTCATTAACTATCATCAGCGTGTCTATCACAACCGCCAGAGACTGGACATGGAAGATCCCTCATGTGAGATGTGTCTCTCCAAAGACAAGACGCTCCAGGATCTTGTCTACGATCTCTCCACCTCAGGGTCTGGCTCAG
Seq A exon
GTACCAAGTTCTTCAGGGCATCATGTCTGTGGTTGGCTTTCATCAGTTTCCCAGCAGGATAGAGTGCTTGTAGAGAAGGCTGGAGGCCCTGCATTTGTTTCTACCAGCATTGAGTCATTTGGTTTCCTAGTTCCCCTTCTTTTGGAGTCTGACGTGTAATAAGATAAGATAATGGGTTCACAGAAAATCTCTCATTCCGTGGGATTCCCAAGGTCTAGTACACAATTATCCACTACAGAAGTCCTGCCTCTCTAAGCTTTGCAACTGTACGTACATCTATTAAAATTCAGCTGGTCCCACCTGAGCAGTGGAGTGCTCAATTTCAGGGCCCCTTTTGAGAAACAGGAGTGTGCCAGATTCCTGTGAGGTGGTGACAGCTAATCATTGATCTCTGAGCAACCACAAGGGGAGTTTAAGGACATCCAGTAAAGCTTAGAGTTGGGATTTGGTGAATCATTGACTTGTACCAGTTGCCCAAGGGTTTTTGGTGGGGGTGAAAATAAAGGCAGTGTGGGCCTCCAGCATAGCATCAGCACTATTTCCTGTACTGCCTTTTGTTGACCAAGTCTTTCTCAGATGAGGGAAATGAACCAAACACTGGACCTTGGCATAAGACGAGAATTTAAGATAAAGGAGCTCGGGGTTGTTTAGGTCTCAGGGTATAGCTCAGCTAGCTATTAAATGTGAACATGAATGCAAAAGAATTTTTTTACTTACTTATTTATGTATTTATTTATTTAGAAACAGAGTCTTGCTCTGTTTCCCAGGCAGGAGTGCAGTGGCGCAATTTCCGCTCTCTGAAACCTCCACCTGCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAATGCGCCACCACAGCGACTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCACATCAGTCAGGCTGGTCTTGTGTTCTTGACCTCAAGTGATCCGCCTGCCTCGTAAAGAATTTTTTTAATGAAGATAAACCATTATTTTTGTGACAATGGTATTGCATTCCTTTTTTTTTTTTTTTTTTTTTGTTTTAAGATATGGTCTCGCTCTGTTGTTGCCCAGGCTGCAGTGCCATTGTGCAATCACAGCTGACTGCAGCCTTAACCTCCTGGGCTCAAGAGATCCTCCACCTTAGTCTCCTGAGTAGCTGAGATGTCAGGCATGTGCCACCAAGCCTGGCAATTTTTTTTTTTTTTTTTTTTTTTGTGGAAGGTTTCACTTTGTTGCCCAGGCTGGTCTCAAATTCTTGGCTTCAAGTCCATTCTTAAAAAAGAAAAAAAACATCCACAAAGATCACTGTTGCCATTCTAGCTAAAACGCAGAGGATCTTATTTGTGAGAACTTTGCGTGTTTTTATGTATGTTTCCTTGACGTGGGACAAGACTGTTGTTCTGTGGGGAAATTATGCCATCAGTCATGCCCAGACATTCTGCTTGACACGGGAGTACTTTGAGCTGTGACATCTCCTGAATTTCAGTGGCTTTGCTTTTATTAAGCTCTGCAGTAGAGAGCACCAAAATGATGGATATATTTAAAAGCTGCATATTTTTAGAAACAGCAAAAATCTAGGGCTTGTTCCTTGTTGAAAGAGGTAGGGCAGTGGTTAGAACCTCCTGGCTGACTGTGGGAATTGATTTGCTGCTAGAGGAGGGTAGATTGGGTTTTCCAAAGTCTTTTTAAGACCCAGACCAGCTGAAACAAGGGAAGGGCCATGGTAGTTGTTTAGTCGTCTGTGGTAAAATGGTTAATAACTATTTCCCTCTGAGTGGTTTAGTATATTCTTCATTCAGAATATGCAGAGCTTCCAAGGTGTTAGGTTTCTAATAATGTGGTTTTTAAAGTAGTAAGTCCATGCTGCTCATATGACTTTCAATTCATTTAAATAAGTATATACTGAATACCTTCTGGGTGATATGGTTTTAAACAGATTAGAAAGAGCCTGACCCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAGAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGCGCCTGTAGTCCCAGGTACTCAAGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGCTGACCCAGGATTGGATCAGAGAGACAGGAATTGTTGGGAAGAGTCTCACAGAGGAGGGCACATTTAAAGGAGTCTTGAGGCCGGGCAGATCACATGAGGTCAAAAGTTTGAGACCAGCCTGACTAACATGGTGAAACCTCGTCTCTACTAAATACAAAAAATTAGCCGGGTGTAGTGGCACACGCCTATAATTCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCCAGATCATGCCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTAGATCACCTCAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGATGAAACCCCCATCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACATGAACCTAGGAGGTGGAGGTTGCAGTGAGCCGAAATCATACCATTGCATTCCAGCCTGGGTGACAGAGCGAGACACCATCTCAAAAAAAAAAAAAAAAAGGAGTCTTGAAGAATGAGTTGGAATTTTTAAGAGAGGCGAGAGGGCAAAGAACATTCCAGGCCAATGAAAATACCTTGAGTAAAAAGACAAAGGCATGAAGGTCCACTGTATGTTTAAAGAACTTTTATGATGAGGAGACCAGCATGATGTGCTTGTGCTGGGGAAGCAGGGGGACGTCAGGCTGCCCCAGGTGTACAGGATCTTGAGGGCTGACCTTTATCTTCTAGGTAAGGGGCTTCTACTGAAAGTTTCCATGTGGGAAATGAATGTTCATTTTTTCCTTTGGAAGGAATTCTGGCAGTGGTGTGGAGGATGAATTCATTCACTACCAGCCTTCTGTTGGGAAGGGTGGGGTGAGGCGGGGTGTGTGTGGGTGCACAGGGCAAGAGCAGGCTGAGATGGGAGGCAAAAGACCTGTTGGAAGTCTTTTAGAGAAGGTCCAAAAGTAGGACAGGCGGACGGAGATGGAGAGGCGGGGGCTAATTTGAGAAACATTTTGGTGGTTCTATACTGTTGTCATTAAAAGCATAGATTATAGAGTCAGACAGTCCTAGATTTTAAGCCCTGCTTTGCCACTTACTGCTTGTATGAATTTGAATATTACATAACCTCCTCTTTGAGCCTTAGTTTTCTTGTTTATAAAATGGGGATGATAACAGCGCCTTACCTTCCAGGTGGTTTGGGGAAGTGAGATAATTTATGTAAAGCCCTTAGCATGGAGCCTAATACATAGTAAGCATGCAGTAAATGGTAGTTCCCATCTACCAGACCTAGGGATTAATAATGTATTAATTATTTGATTGGGGGTGGGAGTAAGACAGTTAAGAGTCACTTGTGATGGTAAGGGTGATTGGATATATAGAGATACATTGAATGAGTCAAATGAAGCAATGTTGAGTTTTATAAAGACAGTAAAGTTAATCTTAGACTAAACATAGATGGTCCTCCATTCTACATCTGGAGTTCGCTTGTGAGCAGAGCATTGCTCTCTTTGGAGATGGGAACCCATGGGCCGCACAGCACTGCCCTCTAGTGGCTAATAAGCAGAACAGCCAGAAGGTGGCCCCCAGCACATGAGCCCACACTTTCATGTTCTCTGCCCTCTTTCCTTCCTCCACCAAAATAAAGCAGATGTGGGTGGATCGGCCCACAGGTGGCTGGCTGAAGAGTTGGTAAATCTGGTCAAACATTTACATTCAAATCTATCATCCGTGCTTACTGAGAGGAGAAATTGCCTAGATAAGGAGTAGCTAATCATACACGTTTCCTGTTTGTGTTCACTCTTTCCCCATCTCTCCGCCTGGCTCAGCCCTCTGGTAGATTACCTAGAAATGTGTATGGGCAGCAGCAGCTCTCCATGGTTAATGGACAGCGTAGGATGAAGACACCATGTTAAGGGTGTTTCCGTTGTGCCAATTAGTGTGGGAGTTGGAAAATTTGTCAAATTTGCAATGTCAGGTTTCTTCCTATTCTTTGGTTCACAG
Seq C2 exon
GGTTACCCCTCTTTGTCCAGCGCACAGTGGCCCGAACCATCGTTTTACAAGAGATTATTGGCAAGGGTCGGTTTGGGGAAGTATGGCGGGGCCGCTGGAGGGGTGGTGATGTGGCTGTGAAAATATTCTCTTCTCGTGAAGAACGGTCTTGGTTCAGGGAAGCAGAGATATACCAGACGGTCATGCTGCGCCATGAAAACATCCTTGGATTTATTGCTGCTGACAATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503:ENST00000542485:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.001 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF085157=TGF_beta_GS=PU(58.6=20.2)
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
Other Skipping Isoforms:
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
- Autistic and control brains
- Pre-implantation embryo development