HsaEX0036892 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33257284-33262821:+
Coord C1 exon
chr2:33257284-33257511
Coord A exon
chr2:33259588-33259610
Coord C2 exon
chr2:33262722-33262821
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
GAAATACCTTCATTGGATCAAGAGAAAACCAAACTTGAGCCTGGTCAACCCCAGCTGTCTCCAGGCATTTCCACTATTCATCTGCATCCACAGTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'45-48,'45-47,47-48=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=0.774 A=1.000 C2=0.737
Domain overlap (PFAM):
C1:
PF0068312=TB=PD(11.9=6.5)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGAGGCCCTGACCTTCTC
R:
GGGTTGACCAGGCTCAAGTTT
Band lengths:
106-129
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