HsaEX6012870 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33262722-33273781:+
Coord C1 exon
chr2:33262722-33262821
Coord A exon
chr2:33263294-33263392
Coord C2 exon
chr2:33273656-33273781
Length
99 bp
Sequences
Splice sites
3' ss Seq
TCCTCTGCTTCCTCATATAGTAG
3' ss Score
6.71
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
Exon sequences
Seq C1 exon
GAAATACCTTCATTGGATCAAGAGAAAACCAAACTTGAGCCTGGTCAACCCCAGCTGTCTCCAGGCATTTCCACTATTCATCTGCATCCACAGTTTCCAG
Seq A exon
TAGTGATTGAAAAAACATCACCTCCTGTGCCTGTTGAAGTAGCTCCTGAAGCTTCTACGTCTAGTGCCAGCCAAGTGATTGCTCCTACTCAAGTGACAG
Seq C2 exon
AAATCAATGAATGTACTGTGAACCCTGATATCTGTGGAGCAGGACACTGCATTAACCTACCAGTGAGATATACCTGTATATGCTACGAGGGCTACAGGTTCAGTGAACAACAGAGGAAATGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'48-52,'48-49,50-52=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.737 A=0.687 C2=0.002
Domain overlap (PFAM):
C1:
NO
A:
PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAACTTGAGCCTGGTCAACCC
R:
AACCTGTAGCCCTCGTAGCAT
Band lengths:
170-269
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains