HsaINT0003348 @ hg19
Intron Retention
Gene
ENSG00000135503 | ACVR1B
Description
activin A receptor, type IB [Source:HGNC Symbol;Acc:172]
Coordinates
chr12:52369049-52370359:+
Coord C1 exon
chr12:52369049-52369288
Coord A exon
chr12:52369289-52370110
Coord C2 exon
chr12:52370111-52370359
Length
822 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
TCCTCTCTCACTTGACTCAGGTC
3' ss Score
7.89
Exon sequences
Seq C1 exon
CTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGTGTGAGACAGATGGGGCCTGCATGGTTTCCATTTTCAATCTGGATGGGATGGAGCACCATGTGCGCACCTGCATCCCCAAAGTGGAGCTGGTCCCTGCCGGGAAGCCCTTCTACTGCCTGAGCTCGGAGGACCTGCGCAACACCCACTGCTGCTACACTGACTACTGCAACAGGATCGACTTGAGGGTGCCCAGTG
Seq A exon
GTGAGTGCATGCCCTTGTTGGGCTAGTGGCTCAGCTTGGAGATAGGGTACCCCGTCATTTCATTTTTTTCTACTCTTGCCCACTCACTTGGTTTGACGATAAAGATGCCTTTTGGATGTTCCCGAAGGTGACAAAGGCTGGGGTTTCTCAGCAGTTGCTTTTGTAGATTAGAGGGTGAGGAAGCAGATTTTCAAGTTAGTCCCAGAGGTGCCCGCAGTGTTTAGAGTAGTGGCTTAGCAGCCATAGGCAGCGGTGAGGAGTGGAAGAACCAGGCAGGGATTCCCACGGGAGGATGTGGGACTGATCCAGAAAGAGATGGCCCCAGAGCCGAGCAAAGGTGACTCCTCAAGGGAGGATGATGGTTAGATGTGAGGAGGGACCAGAATAGGAAAAGGCCAGTGACCAAAGCCGAGAAACACCACATACCATCCTTTTGCAAGCCTACCATTCAGGAGGCATTACTGTGGAGCCCACAGGAAAAGGAGAGAAACTAAAGCAGAGCTTAGAGGAGCTGTGGGAAGTTAAAGGGCAGAAACAGGCATCTGTGTAGGGGCCTGAGGCGGGGATAGTACCACGAAATGCGTGAGGTGACAAAGTGGGTTGTGGGTTTGACTGTGGAAAGAGGTGCCTTAACTAAAGAAGTTGGGCATTTGAGAGCATCTAGGCAGCAAGACTAGCCCAGAAGATTAGAGAGATCAAGGGAGCCTGAACACATCGACAGGGAAAGGGGTCTTTTTCACTCTTCACTTTGAGGGGGGTGTTTTTACTCTTTCCCTTGTTTTTACTTCTCATTCTTTCCCTCTCCTCTCTCACTTGACTCAG
Seq C2 exon
GTCACCTCAAGGAGCCTGAGCACCCGTCCATGTGGGGCCCGGTGGAGCTGGTAGGCATCATCGCCGGCCCGGTGTTCCTCCTGTTCCTCATCATCATCATTGTTTTCCTTGTCATTAACTATCATCAGCGTGTCTATCACAACCGCCAGAGACTGGACATGGAAGATCCCTCATGTGAGATGTGTCTCTCCAAAGACAAGACGCTCCAGGATCTTGTCTACGATCTCTCCACCTCAGGGTCTGGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135503-ACVR1B:NM_004302:2
Average complexity
IR-S
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:
PF0106418=Activin_recp=WD(100=96.3)
A:
NA
C2:
PF085157=TGF_beta_GS=PU(58.6=20.2)
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:
ATCCCCAAAGTGGAGCTGGTC
R:
AGACAAGATCCTGGAGCGTCT
Band lengths:
343-1165
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)