HsaEX0036892 @ hg19
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33482351-33488459:+
Coord C1 exon
chr2:33482351-33482578
Coord A exon
chr2:33484655-33484677
Coord C2 exon
chr2:33488361-33488459
Length
23 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTTTCTGGTTTTAGTGG
3' ss Score
9.29
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
CTGCTTTTAAGGAAATCTGTCCTGGTGGAATGGGTTATACGGTTTCTGGCGTTCATAGACGCAGGCCAATCCATCACCATGTAGGTAAAGGACCTGTATTTGTCAAGCCAAAGAACACTCAACCTGTTGCTAAAAGTACTCATCCTCCACCTCTCCCAGCCAAGGAAGAGCCAGTGGAGGCCCTGACCTTCTCCCGGGAACACGGGCCAGGAGTGGCGGAGCCAGAAG
Seq A exon
TGGCAACTGCACCCCCTGAAAAG
Seq C2 exon
TAGTGATTGAAAAAACATCACCTCCTGTGCCTGTTGAAGTAGCTCCTGAAGCTTCTACGTCTAGTGCCAGCCAAGTGATTGCTCCTACTCAAGTGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323_MULTIEX1-4/17=3-6
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.775 A=1.000 C2=0.689
Domain overlap (PFAM):
C1:
PF0068312=TB=PD(11.9=6.5)
A:
NO
C2:
PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping 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:
CTGACCTTCTCCCGGGAACA
R:
GCTGGCACTAGACGTAGAAGC
Band lengths:
117-140
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
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)