HsaEX6012877 @ hg38
Exon Skipping
Gene
ENSG00000049323 | LTBP1
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:32948875-33110751:+
Coord C1 exon
chr2:32948875-32948945
Coord A exon
chr2:33020909-33021206
Coord C2 exon
chr2:33110582-33110751
Length
298 bp
Sequences
Splice sites
3' ss Seq
CTTCTGTTTTCTTTCTGCAGCTA
3' ss Score
11.11
5' ss Seq
TCAGTGAGT
5' ss Score
7.68
Exon sequences
Seq C1 exon
GGTCAATGTCTGTGGAGGGCGGTGCTGTCATGGCTGGAGTAAGGCCCCTGGCTCCCAGAGGTGCACCAAAC
Seq A exon
CTAGCTGTGTTCCGCCATGTCAGAATGGAGGGATGTGTCTCCGGCCACAACTCTGTGTGTGTAAACCAGGGACCAAGGGCAAAGCCTGTGAAACAATAGCTGCCCAGGACACCTCGTCACCAGTCTTTGGAGGGCAGAGTCCTGGGGCTGCTTCCTCGTGGGGCCCTCCTGAGCAAGCAGCAAAGCATACTTCATCTAAGAAGGCAGACACTCTACCAAGAGTCAGCCCTGTGGCCCAGATGACCTTAACCCTCAAGCCGAAGCCTTCAGTGGGACTCCCCCAGCAGATACATTCTCA
Seq C2 exon
AGTGACTCCTCTTTCTTCCCAGAGTGTGGTGATTCACCATGGCCAGACCCAGGAATACGTGCTCAAGCCCAAGTACTTTCCAGCCCAGAAGGGGATTTCAGGAGAGCAGTCCACTGAAGGTTCTTTCCCTTTAAGATATGTGCAGGATCAAGTTGCGGCACCTTTTCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323-'6-12,'6-7,11-12=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.100 A=0.660 C2=0.167
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000404816fB19197
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAATGTCTGTGGAGGGCG
R:
CTGAAAAGGTGCCGCAACTTG
Band lengths:
239-537
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains