HsaEX6012863 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33363390-33365503:+
Coord C1 exon
chr2:33363390-33363518
Coord A exon
chr2:33364273-33364356
Coord C2 exon
chr2:33365333-33365503
Length
84 bp
Sequences
Splice sites
3' ss Seq
TGGCCAGTGTGTTAATACAGAGG
3' ss Score
0.22
5' ss Seq
ACGGTATGT
5' ss Score
9.94
Exon sequences
Seq C1 exon
ATGCAGATGAATGCCTACTTTTTGGACAAGAAATCTGCAAAAATGGTTTCTGTTTGAACACTCGGCCTGGGTATGAATGCTACTGTAAGCAAGGGACGTACTATGATCCTGTGAAACTGCAGTGCTTTG
Seq A exon
AGGGCTCTTACAACTGCTTCTGTACTCACCCCATGGTCCTGGATGCGTCAGAAAAAAGATGTATACGACCGGCTGAGTCAAACG
Seq C2 exon
AACAAATAGAAGAAACTGATGTCTACCAAGATTTGTGCTGGGAACATCTGAGTGATGAATACGTGTGTAGCCGGCCTCTTGTGGGCAAGCAGACAACGTACACTGAGTGCTGCTGTCTGTATGGAGAGGCCTGGGGCATGCAGTGTGCCCTCTGCCCCCTGAAGGATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'80-90,'80-89,81-90
Average complexity
C1*
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:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=83.3)
C2:
PF0068312=TB=PU(86.0=63.8)
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:
TCGGCCTGGGTATGAATGCTA
R:
AGCAGCACTCAGTGTACGTTG
Band lengths:
182-266
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains