HsaEX0036952 @ hg38
Exon Skipping
Gene
ENSG00000090006 | LTBP4
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717]
Coordinates
chr19:40614315-40619493:+
Coord C1 exon
chr19:40614315-40614446
Coord A exon
chr19:40617100-40617225
Coord C2 exon
chr19:40619347-40619493
Length
126 bp
Sequences
Splice sites
3' ss Seq
TGACTGTCTGGTGGTTGCAGATG
3' ss Score
7.85
5' ss Seq
TGGGTACGG
5' ss Score
6.54
Exon sequences
Seq C1 exon
ACGTGGACGAATGTCGCGAGCGAGGCCCAGCCCTGTGCGGGTCGCAGCGCTGTGAGAACTCTCCCGGCTCCTACCGCTGTGTCCGGGACTGCGATCCTGGGTACCACGCGGGCCCCGAGGGCACCTGTGACG
Seq A exon
ATGTGGACGAATGCCGGAACCGGTCCTTCTGCGGTGCCCACGCCGTGTGCCAGAACCTGCCCGGCTCCTTCCAGTGCCTCTGTGACCAGGGTTACGAGGGGGCACGGGATGGGCGTCACTGCGTGG
Seq C2 exon
ATGTGAACGAGTGTGAAACACTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTCTGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACTTCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX3-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.113
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=84.0),PF0764510=EGF_CA=PU(0.1=0.0)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGGACGAATGTCGCGAG
R:
CATGGGGTCAAACTCTTCCGG
Band lengths:
244-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development