HsaINT0097547 @ hg38
Intron Retention
Gene
ENSG00000119681 | LTBP2
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715]
Coordinates
chr14:74509734-74510213:-
Coord C1 exon
chr14:74510091-74510213
Coord A exon
chr14:74509860-74510090
Coord C2 exon
chr14:74509734-74509859
Length
231 bp
Sequences
Splice sites
5' ss Seq
AAGGTACAG
5' ss Score
8.04
3' ss Seq
AATGCAATGCCCTATTTCAGATG
3' ss Score
6.86
Exon sequences
Seq C1 exon
ATGTGAATGAGTGTCTGACTCCCGGGGTCTGTGCCCATGGAAAGTGCACCAACCTAGAAGGCTCCTTCAGATGCTCTTGTGAGCAGGGCTATGAGGTCACCTCAGATGAGAAGGGCTGCCAAG
Seq A exon
GTACAGAGATGCTGAAGCGCCCCTTCTCCGCAGGCCGATCCAGCTTGTGGCTCCCTCCCCTCTGCACACCACCCTTGGCCCCCTGAATCCACCCCTGGCCTTGCATCCCTATTCACACTGACCCAACACATCCCTGCCCAGACCTGTCCTTCCCCCACCCCTGCCTACCTGCCAGTGTCCTGGCCTGTCTGTCCTGCAGAGTCCCACACAGAATGCAATGCCCTATTTCAG
Seq C2 exon
ATGTGGATGAGTGTGCCAGCCGGGCCTCATGCCCCACAGGCCTCTGCCTCAACACGGAGGGCTCCTTCGCCTGCTCTGCCTGTGAGAACGGGTACTGGGTGAATGAAGACGGCACTGCCTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681:ENST00000261978:20
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:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTGACTCCCGGGGTCTG
R:
CAGTGCCGTCTTCATTCACCC
Band lengths:
228-459
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