HsaEX6012873 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33188577-33222151:+
Coord C1 exon
chr2:33188577-33188851
Coord A exon
chr2:33217552-33217654
Coord C2 exon
chr2:33222080-33222151
Length
103 bp
Sequences
Splice sites
3' ss Seq
TTCACACCTAATCATTGCAGTGT
3' ss Score
5.33
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
TGAAATTTCCTCCTAACATAGTCAATATCCATGTGAAACATCCTCCTGAAGCTTCCGTCCAGATACATCAGGTTTCAAGAATTGATGGCCCAACAGGCCAGAAGACAAAAGAAGCTCAACCAGGCCAATCCCAAGTCTCGTACCAAGGGCTTCCTGTCCAGAAGACCCAGACCATACATTCCACATACTCCCACCAGCAGGTCATTCCTCACGTCTACCCCGTGGCTGCTAAGACACAGCTTGGCCGGTGCTTCCAGGAAACCATTGGGTCACAG
Seq A exon
TGTGGCAAAGCGCTCCCTGGCCTTTCAAAGCAAGAGGACTGCTGTGGAACTGTGGGTACCTCCTGGGGCTTTAACAAATGCCAGAAATGCCCCAAGAAACCAT
Seq C2 exon
CTTATCATGGATACAACCAAATGATGGAATGCCTACCGGGTTATAAGCGGGTTAACAACACCTTTTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'33-34,'33-30,35-34
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.375 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PU(2.3=1.1)
A:
PF0068312=TB=FE(77.3=100)
C2:
PF0068312=TB=PD(15.9=28.0),PF0764510=EGF_CA=PU(0.1=0.0)
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:
CCCAACAGGCCAGAAGACAAA
R:
GGCAAAAGGTGTTGTTAACCCG
Band lengths:
256-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains