HsaEX1022150 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140364661-140370842:-
Coord C1 exon
chr2:140370710-140370842
Coord A exon
chr2:140368558-140368718
Coord C2 exon
chr2:140364661-140364783
Length
161 bp
Sequences
Splice sites
3' ss Seq
TTCTATTCATTTCCAATCAGGAT
3' ss Score
7.89
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
ATGGACTGTGTGACTGAATGTAAGGAAGATCAGTTTCGGTGCAAAAATAAAGCCCACTGTATTCCAATTAGATGGCTGTGTGATGGAATTCATGACTGTGTGGATGGCAGTGATGAAGAGAACTGTGAAAGAG
Seq A exon
GATACATGAGCTTATAGGAGCTGAGTGTTGGGAACTGGAATATAAGAGAGCTGAAGGATAAGCGTGACACAGTTTCCCAATTAATCAGTTTTACTGGTTTACTTTAAAAGACAAAAATTCAAAATACTCTGGAATTAAAAGCAGCATTTGCATTTTTGAAG
Seq C2 exon
GAGGAAATATATGTAGAGCTGATGAGTTCCTTTGCAATAATTCTCTCTGCAAACTACATTTCTGGGTGTGTGATGGAGAGGACGACTGTGGAGACAACTCTGATGAAGCCCCTGATATGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'104-140,'104-139,105-140
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=PD(5.4=4.4),PF0005713=Ldl_recept_a=WD(100=84.4)
A:
NO
C2:
PF0005713=Ldl_recept_a=WD(100=92.9)
Main Inclusion Isoform:
ENST00000389484fB19029
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACTGTGTGACTGAATGTAAGG
R:
CAGGGGCTTCATCAGAGTTGT
Band lengths:
246-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains