HsaEX0036464 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12179810-12184111:-
Coord C1 exon
chr12:12183980-12184111
Coord A exon
chr12:12181276-12181439
Coord C2 exon
chr12:12179810-12179981
Length
164 bp
Sequences
Splice sites
3' ss Seq
ATTTCACTTTGTTGTTCTAGGTG
3' ss Score
10.96
5' ss Seq
GAAGTGAGG
5' ss Score
3.71
Exon sequences
Seq C1 exon
CCACAAATCCATGTGGAATTGACAATGGGGGTTGTTCCCATTTGTGTTTGATGTCTCCAGTCAAGCCTTTTTATCAGTGTGCTTGCCCCACTGGGGTCAAACTCCTGGAGAATGGAAAAACCTGCAAAGATG
Seq A exon
GTGCCACAGAATTATTGCTTTTAGCTCGAAGGACAGACTTGAGACGCATTTCTTTGGATACACCAGATTTTACAGACATTGTTCTGCAGTTAGAAGACATCCGTCATGCCATTGCCATAGATTACGATCCTGTGGAAGGCTACATCTACTGGACTGATGATGAA
Seq C2 exon
GTACATGTATTGGACTGACTGGGGAGAAATTCCGAAAATTGAGCGAGCAGCTCTGGATGGTTCTGACCGTGTAGTATTGGTTAACACTTCTCTTGGTTGGCCAAATGGTTTAGCCTTGGATTATGATGAAGGCAAAATATACTGGGGAGATGCCAAAACAGACAAGATTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'18-26,'18-25,19-26
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF146701=FXa_inhibition=WD(100=84.4)
A:
PF0005812=Ldl_recept_b=WD(100=30.8),PF0005812=Ldl_recept_b=WD(100=30.8),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=72.4),PF0005812=Ldl_recept_b=PU(33.3=22.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATGTCTCCAGTCAAGCCTT
R:
CTGTTTTGGCATCTCCCCAGT
Band lengths:
245-409
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