HsaEX1022414 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33347367-33360779:+
Coord C1 exon
chr2:33347367-33347510
Coord A exon
chr2:33351590-33351674
Coord C2 exon
chr2:33360597-33360779
Length
85 bp
Sequences
Splice sites
3' ss Seq
ATATTCCCCTGTCTCAACAGAAC
3' ss Score
10.38
5' ss Seq
ATGGTAAAC
5' ss Score
4.68
Exon sequences
Seq C1 exon
ATGTGAATGAATGTGAACTGCTCAGTGGGGTGTGTGGTGAAGCCTTCTGTGAAAACGTGGAAGGGTCCTTCCTGTGCGTGTGTGCTGATGAAAACCAAGAGTACAGCCCCATGACTGGGCAGTGCCGCTCCCGGACCTCCACAG
Seq A exon
AACCGTTTTCCATTTGACCTTCAGTGCACTGAAATCAGGCCCTCTGACTTTTCATCTAAGTGAGCCGTCAGTGAGCTTCTATATG
Seq C2 exon
ATTTAGATGTAGATGTAGATCAACCCAAAGAAGAAAAGAAAGAATGCTACTATAATCTCAATGACGCCAGTCTCTGTGATAATGTGTTGGCCCCCAATGTCACGAAACAAGAATGCTGCTGTACATCAGGCGTGGGATGGGGAGATAACTGCGAAATCTTCCCCTGCCCGGTCTTGGGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'73-80,'73-79,74-80
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.200 C2=0.015
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=85.7)
A:
NO
C2:
PF0068312=TB=PU(86.4=61.3)
Main Inclusion Isoform:
ENST00000404816fB19196
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAAGAGTACAGCCCCATGA
R:
CGCCTGATGTACAGCAGCATT
Band lengths:
183-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains