HsaEX6012865 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33360597-33363518:+
Coord C1 exon
chr2:33360597-33360779
Coord A exon
chr2:33361429-33361515
Coord C2 exon
chr2:33363390-33363518
Length
87 bp
Sequences
Splice sites
3' ss Seq
TTTGTCTCTTCTAAAATCAGCTG
3' ss Score
5.83
5' ss Seq
AAGGTCAGA
5' ss Score
6.8
Exon sequences
Seq C1 exon
ATTTAGATGTAGATGTAGATCAACCCAAAGAAGAAAAGAAAGAATGCTACTATAATCTCAATGACGCCAGTCTCTGTGATAATGTGTTGGCCCCCAATGTCACGAAACAAGAATGCTGCTGTACATCAGGCGTGGGATGGGGAGATAACTGCGAAATCTTCCCCTGCCCGGTCTTGGGAACTG
Seq A exon
CTGAGTTCACTGAAATGTGTCCCAAAGGGAAAGGTTTTGTGCCTGCTGGAGAATCATCTTCTGAAGCTGGTGGTGAGAACTATAAAG
Seq C2 exon
ATGCAGATGAATGCCTACTTTTTGGACAAGAAATCTGCAAAAATGGTTTCTGTTTGAACACTCGGCCTGGGTATGAATGCTACTGTAAGCAAGGGACGTACTATGATCCTGTGAAACTGCAGTGCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'75-85,'75-82,76-85
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=0.052 C2=0.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PU(86.4=61.3)
A:
PF0068312=TB=PD(11.4=16.7),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.5),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:
GTGATAATGTGTTGGCCCCCA
R:
CAGGCCGAGTGTTCAAACAGA
Band lengths:
177-264
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains