HsaEX0036891 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33252677-33259610:+
Coord C1 exon
chr2:33252677-33252844
Coord A exon
chr2:33257443-33257511
Coord C2 exon
chr2:33259588-33259610
Length
69 bp
Sequences
Splice sites
3' ss Seq
TCATCCTCCACCTCTCCCAGCCA
3' ss Score
5.66
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
CTGATCCCCCTGTGATCTCGGAAGAGAAAGGGCCCTGTTACCGACTTGTCAGTTCTGGAAGACAGTGTATGCACCCTCTGTCTGTTCACCTCACCAAGCAGCTCTGCTGTTGTAGTGTGGGCAAGGCCTGGGGCCCACACTGTGAGAAATGTCCCCTTCCAGGCACAG
Seq A exon
CCAAGGAAGAGCCAGTGGAGGCCCTGACCTTCTCCCGGGAACACGGGCCAGGAGTGGCGGAGCCAGAAG
Seq C2 exon
TGGCAACTGCACCCCCTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'43-47,'43-45,45-47
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=0.784 C2=1.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PU(90.0=63.2)
A:
PF0068312=TB=PD(7.5=12.5)
C2:
NO
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:
GAGAAAGGGCCCTGTTACCGA
R:
CTTTTCAGGGGGTGCAGTTGC
Band lengths:
168-237
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development