HsaINT0097612 @ hg38
Intron Retention
Gene
ENSG00000090006 | LTBP4
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717]
Coordinates
chr19:40613404-40614038:+
Coord C1 exon
chr19:40613404-40613529
Coord A exon
chr19:40613530-40613915
Coord C2 exon
chr19:40613916-40614038
Length
386 bp
Sequences
Splice sites
5' ss Seq
TCGGTTCGT
5' ss Score
4.07
3' ss Seq
TCGGACGCCCTGTCCCGCAGACG
3' ss Score
7.76
Exon sequences
Seq C1 exon
ACGTGAACGAGTGCCTGGAGGGCGATTTCTGCTTCCCTCACGGCGAGTGCCTCAACACTGACGGCTCCTTTGCCTGTACTTGTGCCCCTGGCTACCGACCCGGACCCCGCGGAGCCTCTTGCCTCG
Seq A exon
GTTCGTACCCGGGCTGATCCTGGCCCCGGAAAGGGTGGGCTTAGGGCAGGAAAAGGCGGGACGGGGAGAAGAGGGCGAAAAGGGGAAAACGAGTTTTTAGCCGGGGTATTCCAGCAGGATCAGGGGGCAGCTGGTGGGAGTCTCGAGGCAGTGAGGGGGGGCGGGGCGTGGAGATGAAAGGGCCGAGTCTGGGTATTTGGACCGTGATTGTAAAGAAGCTGTTCTAAACCCGTCGGGGGGCGGTGTTTGCAGGGAGGGAAGTAGCGTGAGGCAGGTTGGGGAAGGCGTGAGAGGCCTAGGAGAGCCGAGGGGCGGTGGAGGGGTGTGGCCTAGAATGTTAGGCGGAGCGGGAGGTGGGCCGGGCCTTCGGACGCCCTGTCCCGCAG
Seq C2 exon
ACGTTGACGAGTGCAGCGAGGAGGACCTTTGCCAGAGCGGCATCTGTACCAACACCGACGGCTCCTTCGAGTGCATCTGTCCTCCGGGACACCGCGCTGGCCCGGACCTCGCCTCCTGCCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006:ENST00000308370:20
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=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGAACGAGTGCCTGGAG
R:
GAGGCAGGAGGCGAGGTC
Band lengths:
247-633
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development