HsaEX6012877 @ hg19
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:6714]
Coordinates
chr2:33173942-33335818:+
Coord C1 exon
chr2:33173942-33174012
Coord A exon
chr2:33245976-33246273
Coord C2 exon
chr2:33335649-33335818
Length
298 bp
Sequences
Splice sites
3' ss Seq
CTTCTGTTTTCTTTCTGCAGCTA
3' ss Score
11.11
5' ss Seq
TCAGTGAGT
5' ss Score
7.68
Exon sequences
Seq C1 exon
GGTCAATGTCTGTGGAGGGCGGTGCTGTCATGGCTGGAGTAAGGCCCCTGGCTCCCAGAGGTGCACCAAAC
Seq A exon
CTAGCTGTGTTCCGCCATGTCAGAATGGAGGGATGTGTCTCCGGCCACAACTCTGTGTGTGTAAACCAGGGACCAAGGGCAAAGCCTGTGAAACAATAGCTGCCCAGGACACCTCGTCACCAGTCTTTGGAGGGCAGAGTCCTGGGGCTGCTTCCTCGTGGGGCCCTCCTGAGCAAGCAGCAAAGCATACTTCATCTAAGAAGGCAGACACTCTACCAAGAGTCAGCCCTGTGGCCCAGATGACCTTAACCCTCAAGCCGAAGCCTTCAGTGGGACTCCCCCAGCAGATACATTCTCA
Seq C2 exon
AGTGACTCCTCTTTCTTCCCAGAGTGTGGTGATTCACCATGGCCAGACCCAGGAATACGTGCTCAAGCCCAAGTACTTTCCAGCCCAGAAGGGGATTTCAGGAGAGCAGTCCACTGAAGGTTCTTTCCCTTTAAGATATGTGCAGGATCAAGTTGCGGCACCTTTTCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'2-3,'2-2,3-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.080 A=0.665 C2=0.256
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAATGTCTGTGGAGGGCG
R:
CTGAAAAGGTGCCGCAACTTG
Band lengths:
239-537
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)