HsaEX0036460 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12131821-12135300:-
Coord C1 exon
chr12:12135175-12135300
Coord A exon
chr12:12134737-12134879
Coord C2 exon
chr12:12131821-12132057
Length
143 bp
Sequences
Splice sites
3' ss Seq
CTTAACAGGATGACTTCCAGGTT
3' ss Score
0.65
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GACAGCACCCTTGTGCTCAGGATAATGGTGGCTGTTCACATATTTGTCTTGTAAAGGGGGATGGTACTACAAGGTGTTCTTGCCCCATGCACCTGGTTCTACTTCAAGATGAGCTATCATGTGGAG
Seq A exon
GTTCATCTGTGTTGTTGCAAATGACAGGATTTCCTACTTTTTTTGACTGAATAGTATTTCACTGCGTATATATTACCACACTTTTCAGCCTGTGAATGAGTATGCTTCCTAATATTAAAGTAGCCTCCCCCCTCTCCCAAAAG
Seq C2 exon
AACCTCCAACATGTTCTCCTCAGCAGTTTACTTGTTTCACGGGGGAAATTGACTGTATCCCTGTGGCTTGGCGGTGCGATGGGTTTACTGAATGTGAAGACCACAGTGATGAACTCAATTGTCCTGTATGCTCAGAGTCCCAGTTCCAGTGTGCCAGTGGGCAGTGTATTGATGGTGCCCTCCGATGCAATGGAGATGCAAACTGCCAGGACAAATCAGATGAGAAGAACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018_MULTIEX4-2/3=1-3
Average complexity
S
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:
PF146701=FXa_inhibition=WD(100=86.0),PF0005713=Ldl_recept_a=PU(10.8=9.3)
A:
NO
C2:
PF0005713=Ldl_recept_a=WD(100=48.8),PF0005713=Ldl_recept_a=WD(100=46.2),PF0005713=Ldl_recept_a=PU(0.1=0.0)
Main Inclusion Isoform:
ENST00000543091fB3959
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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:
CCCCATGCACCTGGTTCTACT
R:
CATCTCCATTGCATCGGAGGG
Band lengths:
242-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development