HsaEX0036953 @ hg19
Exon Skipping
Gene
ENSG00000090006 | LTBP4
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:6717]
Coordinates
chr19:41125252-41129637:+
Coord C1 exon
chr19:41125252-41125398
Coord A exon
chr19:41128306-41128572
Coord C2 exon
chr19:41129509-41129637
Length
267 bp
Sequences
Splice sites
3' ss Seq
AAAGCTCCTTGTCTCCCCAGGCA
3' ss Score
8.73
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
Exon sequences
Seq C1 exon
ATGTGAACGAGTGTGAAACACTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTCTGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACTTCTGCTG
Seq A exon
GCACGTTCCCAGGCTCGCAGCCCCAGGCACCTGCTAGCCCCGTTCTGCCCGCCAGGCCACCTCCGCCACCCCTGCCCCGCCGACCCAGCACACCTAGGCAGGGCCCTGTGGGGAGTGGGCGCCGGGAGTGCTACTTTGACACAGCGGCCCCGGATGCATGTGACAACATCCTGGCTCGGAATGTGACATGGCAGGAGTGCTGCTGTACTGTGGGTGAGGGCTGGGGCAGCGGCTGCCGCATCCAGCAGTGCCCGGGCACCGAGACAG
Seq C2 exon
ACGTGGACGAATGTCAGCTCTTCCGAGACCAGGTGTGCAAGAGTGGCGTGTGTGTGAACACGGCCCCGGGCTACTCATGCTATTGCAGCAACGGCTACTACTACCACACACAGCGGCTGGAGTGCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX1-19/22=18-21
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.158 A=0.381 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=PU(86.4=42.2)
C2:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGGTGTATGTGGAGCTGC
R:
GATGCACTCCAGCCGCTG
Band lengths:
252-519
Functional annotations
There are 1 annotated functions for this event
PMID: 11683420
This event
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
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)