HsaEX0036916 @ hg38
Exon Skipping
Gene
ENSG00000119681 | LTBP2
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715]
Coordinates
chr14:74504778-74506191:-
Coord C1 exon
chr14:74506048-74506191
Coord A exon
chr14:74504983-74505169
Coord C2 exon
chr14:74504778-74504861
Length
187 bp
Sequences
Splice sites
3' ss Seq
ATCTGTCACGCACAGGTCAGAGT
3' ss Score
-3.31
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
ATGTGAACGAGTGTGAGCTTATGCTGGCGGTATGTGGGGCCGCGCTCTGTGAGAACGTGGAGGGCTCCTTCCTGTGCCTCTGTGCCAGTGACCTGGAGGAGTACGATGCCCAGGAGGGGCACTGCCGCCCACGGGGGGCTGGAG
Seq A exon
AGTATGTCTGAGGCCCCAACGGGGGACCATGCCCCGGCCCCCACCCGCATGGACTGCTACTCCGGGCAGAAGGGCCATGCGCCCTGCTCCAGTGTCCTGGGCCGGAACACCACACAGGCTGAATGCTGCTGCACCCAGGGCGCTAGCTGGGGAGATGCCTGTGACCTCTGCCCGTCTGAGGACTCAG
Seq C2 exon
CTGAATTCAGCGAGATCTGCCCTAGTGGAAAAGGCTACATTCCTGTGGAAGGAGCCTGGACGTTTGGACAGACCATGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681-'70-62,'70-61,71-62
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.061 A=0.123 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=85.7)
A:
PF0068312=TB=PU(85.7=55.4)
C2:
PF0068312=TB=PD(11.9=17.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGAACGAGTGTGAGCTTATGC
R:
TGGTCTGTCCAAACGTCCAGG
Band lengths:
218-405
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