HsaEX6003456 @ hg38
Exon Skipping
Gene
ENSG00000162337 | LRP5
Description
LDL receptor related protein 5 [Source:HGNC Symbol;Acc:HGNC:6697]
Coordinates
chr11:68406524-68411620:+
Coord C1 exon
chr11:68406524-68406813
Coord A exon
chr11:68409914-68410140
Coord C2 exon
chr11:68411436-68411620
Length
227 bp
Sequences
Splice sites
3' ss Seq
TCCTCCTCACCTGCTGCCAGACC
3' ss Score
5.82
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCTTCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAG
Seq A exon
ACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGG
Seq C2 exon
CTACATCTACTGGACCGAGTGGGGCGGCAAGCCGAGGATCGTGCGGGCCTTCATGGACGGGACCAACTGCATGACGCTGGTGGACAAGGTGGGCCGGGCCAACGACCTCACCATTGACTACGCTGACCAGCGCCTCTACTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162337-'37-27,'37-25,38-27=AN
Average complexity
A_S
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:
PF146701=FXa_inhibition=WD(100=37.1),PF0005812=Ldl_recept_b=PU(24.4=10.3)
A:
PF0005812=Ldl_recept_b=PD(70.7=38.2),PF0005812=Ldl_recept_b=WD(100=53.9),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=65.1),PF0005812=Ldl_recept_b=PU(51.4=30.2)
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:
ACATGAAGACCTGCATCGTGC
R:
GCGTAGTCAATGGTGAGGTCG
Band lengths:
308-535
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains