HsaEX6065200 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12159780-12164562:-
Coord C1 exon
chr12:12164273-12164562
Coord A exon
chr12:12162193-12162419
Coord C2 exon
chr12:12159780-12159964
Length
227 bp
Sequences
Splice sites
3' ss Seq
TTGTTAATGTTCTTTTGCAGACC
3' ss Score
11.23
5' ss Seq
AGGGTAAAC
5' ss Score
4.45
Exon sequences
Seq C1 exon
GTTCCAACCCCTGTGCTGAGGAAAACGGGGGATGTAGCCATCTCTGCCTCTATAGACCTCAGGGCCTTCGCTGTGCTTGCCCTATTGGCTTTGAACTCATCAGTGACATGAAGACCTGCATTGTCCCAGAGGCTTTCCTTTTGTTTTCACGGAGAGCAGATATCAGACGAATTTCTCTGGAAACAAACAATAATAATGTGGCTATTCCACTCACTGGTGTCAAAGAAGCTTCTGCTTTGGATTTTGATGTGACAGACAACCGAATTTATTGGACTGATATATCACTCAAG
Seq A exon
ACCATCAGCAGAGCCTTTATGAATGGCAGTGCACTGGAACATGTGGTAGAATTCGGCTTAGATTATCCAGAAGGCATGGCAGTAGACTGGCTTGGGAAGAACTTGTACTGGGCAGACACAGGAACGAATCGAATTGAGGTGTCAAAGTTGGATGGGCAGCACCGACAAGTTTTGGTGTGGAAAGACCTAGATAGTCCCAGAGCTCTCGCGTTGGACCCTGCCGAAGG
Seq C2 exon
ATTTATGTATTGGACTGAATGGGGTGGAAAACCTAAGATAGACAGAGCTGCAATGGATGGAAGTGAACGTACTACCTTAGTTCCAAATGTGGGGCGGGCAAACGGCCTAACTATTGATTATGCTAAAAGGAGGCTTTATTGGACAGACCTGGACACCAACTTAATAGAATCTTCAAATATGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'24-33,'24-31,26-33
Average complexity
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=0.064
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 Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATAGACCTCAGGGCCTTCGC
R:
CCATCCATTGCAGCTCTGTCT
Band lengths:
300-527
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains