HsaEX6067359 @ hg38
Exon Skipping
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57138459-57143798:+
Coord C1 exon
chr12:57138459-57138581
Coord A exon
chr12:57141374-57141511
Coord C2 exon
chr12:57143679-57143798
Length
138 bp
Sequences
Splice sites
3' ss Seq
ACCCTTCTGTCTGCCCTCAGGTC
3' ss Score
13.98
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
CCCCTAAGACTTGCAGCCCCAAGCAGTTTGCCTGCAGAGATCAAATAACCTGTATCTCAAAGGGCTGGCGGTGCGACGGTGAGAGGGACTGCCCAGACGGATCTGACGAGGCCCCTGAGATTT
Seq A exon
GTCCACAGAGTAAGGCCCAGCGATGCCAGCCAAACGAGCATAACTGCCTGGGTACTGAGCTGTGTGTTCCCATGTCCCGCCTCTGCAATGGGGTCCAGGACTGCATGGACGGCTCAGATGAGGGGCCCCACTGCCGAG
Seq C2 exon
AGCTCCAAGGCAACTGCTCTCGCCTGGGCTGCCAGCACCATTGTGTCCCCACACTCGATGGGCCCACCTGCTACTGCAACAGCAGCTTTCAGCTTCAGGCAGATGGCAAGACCTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'5-6,'5-4,10-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=95.2)
A:
PF0005713=Ldl_recept_a=PD(0.1=0.0),PF0005713=Ldl_recept_a=WD(100=83.0),PF146701=FXa_inhibition=PU(4.9=4.3)
C2:
PF146701=FXa_inhibition=PD(92.7=92.7)
Main Skipping Isoform:
ENST00000243077fB100
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTAAGACTTGCAGCCCCAAG
R:
GGTCTTGCCATCTGCCTGAAG
Band lengths:
234-372
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains