HsaINT0003351 @ hg38
Intron Retention
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor type 1B [Source:HGNC Symbol;Acc:HGNC:172]
Coordinates
chr12:51983999-51985348:+
Coord C1 exon
chr12:51983999-51984166
Coord A exon
chr12:51984167-51985191
Coord C2 exon
chr12:51985192-51985348
Length
1025 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CCTGTTTTTTTCTCTGCCAGGGA
3' ss Score
10.28
Exon sequences
Seq C1 exon
ATAATGGCACCTGGACACAGCTGTGGCTTGTTTCTGACTATCATGAGCACGGGTCCCTGTTTGATTATCTGAACCGGTACACAGTGACAATTGAGGGGATGATTAAGCTGGCCTTGTCTGCTGCTAGTGGGCTGGCACACCTGCACATGGAGATCGTGGGCACCCAAG
Seq A exon
GTGAGTGGACTAGCGCAGGAGCGGCGAAGTGGTGTAGGCATGAAAGGTCCGCAGTGTCCTGATTTAGTTCCTAGAATTCCTTTTTACTGAGGAAGTTGGGGCTGGACCTCAGGAACTCTAGTTTAATTTAAAGGAAAGGAGGTTTGAGCTTCACTTAAGTGAGGTATCTACAGGGTGTTCCCTTCACCTCTGTCTTGATAGAACTCCCTCAGGAACCCTATAATATCAATATTCAGCTACTTGTCAATCAGTGGCTTGACATAGTCATTTGTTACGAAGGAGTAATCATCTTAGAATCCCACAATAGACATGAGAAAAAATGGAACTAAAAAGATAAACCAGTGTACTGGGAACATCAGTTTAGTGATTTCCATGTTCATTGATGGGGACAGCTGGCTTAAAGGCCACTTGGTGGATTAGATTCTGGGCCTTACTAATCTGGGAAGGTTTTCCTGGAGGAAGAAGACCTGAAGCTCTGCTACTTGTTGATTATCATGTCGGCTCTTTGGGAGATCCTGGATCTTGTCACAATGGCAGGTGTGATCCCTGATGCCTGGTTGACCAGGGCCACAATGGAAAATCACCCGTGAAAGTTGGATCCTATTCCTATAGCCTGTGCGGTGCCAGTTCTCATCATCGGGCCTGTTTCCTTCTGAGAACTAGGCATTGCAGCAACTTCCCTTCAGTCCCTCAGCACTTCTGTACCTGAGCATATTTGCTCAGGGAAGGCGAGTAGTAGTAGTAAATATTAATACAAATATTAGCTAAATACACATGTCCTTCTATGGTCGTAACTTAGCTACATGAATGCATTTAATCCTCACAACAGTCCCATGAAATAAGTAGTCATTCTGATTTTATGGATGAGAAGACTGAGGTACAGAGGGCTAAAGTCACTTTTCCAGGGTCACTGGATTAGCAGGAGGCAAAGCCAGGACTCAAACCTATACAGTCTGGCTGCATAGTCTATGCTTTTAACATTTATATCATCTCTTTGTAAAGATCCCTGTTTTTTTCTCTGCCAG
Seq C2 exon
GGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTCTGGTGAAGAAAAATGGCATGTGTGCCATAGCAGACCTGGGCCTGGCTGTCCGTCATGATGCAGTCACTGACACCATTGACATTGCCCCGAATCAGAGGGTGGGGACCAAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503:ENST00000542485:5
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:
PF0006920=Pkinase=FE(19.4=100)
A:
NA
C2:
PF0006920=Pkinase=FE(18.1=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:
ATAATGGCACCTGGACACAGC
R:
TTTGGTCCCCACCCTCTGATT
Band lengths:
323-1348
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