HsaEX6015774 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140364661-140371285:-
Coord C1 exon
chr2:140371179-140371285
Coord A exon
chr2:140370710-140370842
Coord C2 exon
chr2:140364661-140364783
Length
133 bp
Sequences
Splice sites
3' ss Seq
GTCCATTTGTATTTGAACAGATG
3' ss Score
6.49
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
CTTCTCCTACTTGCTCATCACGTGAATATATATGTGCCAGTGATGGATGTATTTCAGCATCTTTGAAATGTAATGGAGAATATGATTGTGCTGATGGTTCAGATGAG
Seq A exon
ATGGACTGTGTGACTGAATGTAAGGAAGATCAGTTTCGGTGCAAAAATAAAGCCCACTGTATTCCAATTAGATGGCTGTGTGATGGAATTCATGACTGTGTGGATGGCAGTGATGAAGAGAACTGTGAAAGAG
Seq C2 exon
GAGGAAATATATGTAGAGCTGATGAGTTCCTTTGCAATAATTCTCTCTGCAAACTACATTTCTGGGTGTGTGATGGAGAGGACGACTGTGGAGACAACTCTGATGAAGCCCCTGATATGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'103-140,'103-137,104-140
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=PU(89.2=91.7)
A:
PF0005713=Ldl_recept_a=PD(5.4=4.4),PF0005713=Ldl_recept_a=WD(100=84.4)
C2:
PF0005713=Ldl_recept_a=WD(100=92.9)
Main Skipping Isoform:
NA
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:
TCTCCTACTTGCTCATCACGTGA
R:
CACACATATCAGGGGCTTCATCA
Band lengths:
228-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains