HsaEX6012871 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33243662-33257511:+
Coord C1 exon
chr2:33243662-33243784
Coord A exon
chr2:33252677-33252844
Coord C2 exon
chr2:33257443-33257511
Length
168 bp
Sequences
Splice sites
3' ss Seq
GCTTTATCTCTCTGCTTCAGCTG
3' ss Score
8.76
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
ATATTAATGAATGTCAGCTACAAGGTGTATGCCCTAATGGTGAGTGTTTGAATACCATGGGCAGCTATCGATGTACCTGCAAAATAGGATTTGGGCCGGATCCTACCTTTTCAAGTTGTGTTC
Seq A exon
CTGATCCCCCTGTGATCTCGGAAGAGAAAGGGCCCTGTTACCGACTTGTCAGTTCTGGAAGACAGTGTATGCACCCTCTGTCTGTTCACCTCACCAAGCAGCTCTGCTGTTGTAGTGTGGGCAAGGCCTGGGGCCCACACTGTGAGAAATGTCCCCTTCCAGGCACAG
Seq C2 exon
CCAAGGAAGAGCCAGTGGAGGCCCTGACCTTCTCCCGGGAACACGGGCCAGGAGTGGCGGAGCCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323_MULTIEX2-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.002 C2=0.784
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.2)
A:
PF0068312=TB=PU(90.0=63.2)
C2:
PF0068312=TB=PD(7.5=12.5)
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:
ATTAATGAATGTCAGCTACAAGGTGT
R:
CCACTCCTGGCCCGTGTTC
Band lengths:
178-346
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains