HsaEX0036955 @ hg38
Exon Skipping
Gene
ENSG00000090006 | LTBP4
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717]
Coordinates
chr19:40619347-40623732:+
Coord C1 exon
chr19:40619347-40619493
Coord A exon
chr19:40622950-40623021
Coord C2 exon
chr19:40623604-40623732
Length
72 bp
Sequences
Splice sites
3' ss Seq
AGGCTTGTCTCTGTGTGTAGCTG
3' ss Score
6.31
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
ATGTGAACGAGTGTGAAACACTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTCTGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACTTCTGCTG
Seq A exon
CTGAGTACCAGTCATTGTGCCCTCACGGCCGGGGCTACCTGGCGCCCAGTGGAGACCTGAGCCTCCGGAGAG
Seq C2 exon
ACGTGGACGAATGTCAGCTCTTCCGAGACCAGGTGTGCAAGAGTGGCGTGTGTGTGAACACGGCCCCGGGCTACTCATGCTATTGCAGCAACGGCTACTACTACCACACACAGCGGCTGGAGTGCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX2-2/4=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.113 A=0.040 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=84.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0068312=TB=PD(11.4=20.0),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGCTCCTTCCTCTGTGTCTG
R:
GCAATAGCATGAGTAGCCCGG
Band lengths:
172-244
Functional annotations
There are 1 annotated functions for this event
PMID: 11683420
LTBP-4delta8-Cys3rd (skipping of both exons) does not bind TGF-beta and it was found to be expressed in the same tissues as the full length LTBP-4
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