HsaEX0036911 @ hg38
Exon Skipping
Gene
ENSG00000119681 | LTBP2
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715]
Coordinates
chr14:74507179-74508729:-
Coord C1 exon
chr14:74508604-74508729
Coord A exon
chr14:74507973-74508095
Coord C2 exon
chr14:74507179-74507310
Length
123 bp
Sequences
Splice sites
3' ss Seq
GACAGCCATCTCTACTCTAGATG
3' ss Score
7.02
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
ATGTGAATGAGTGCATGGGGGAGGAGCACTGCGCACCCCACGGCGAGTGCCTCAACAGCCACGGGTCTTTCTTCTGTCTGTGCGCGCCTGGCTTCGTCAGCGCAGAGGGGGGCACCAGCTGCCAGG
Seq A exon
ATGTGGACGAGTGTGCCACCACAGACCCGTGTGTGGGAGGGCACTGTGTCAACACCGAGGGCTCCTTCAACTGTCTATGTGAGACTGGCTTCCAGCCCTCCCCAGAGAGTGGAGAGTGTGTGG
Seq C2 exon
ATATTGACGAGTGTGAGGACTATGGAGACCCGGTGTGTGGCACCTGGAAGTGTGAAAACAGCCCTGGCTCCTACCGCTGTGTTCTGGGCTGCCAGCCTGGCTTCCACATGGCCCCGAACGGAGACTGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681_MULTIEX3-1/4=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF062476=Plasmod_Pvs28=FE(26.8=100),PF0764510=EGF_CA=WD(100=95.3)
A:
PF0764510=EGF_CA=WD(100=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF062476=Plasmod_Pvs28=FE(28.0=100),PF0764510=EGF_CA=WD(100=95.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAATGAGTGCATGGGGGAG
R:
CAATGCAGTCTCCGTTCGGG
Band lengths:
256-379
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