HsaEX0036466 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12203203-12266812:-
Coord C1 exon
chr12:12266681-12266812
Coord A exon
chr12:12244262-12244655
Coord C2 exon
chr12:12203203-12203400
Length
394 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTTTTTTGTTCTAGCGG
3' ss Score
11.54
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GCGGCCGCCCCGGCTCCTCGCCTCCCCCACTTCTGGCCACCCCTCGCCGGTGAGAGAAGAGAACGCGAGAAGGGAAGATGGGGGCCGTCCTGAGGAGCCTCCTGGCCTGCAGCTTCTGTGTGCTCCTGAGAG
Seq A exon
CGGCCCCTTTGTTGCTTTATGCAAACAGACGGGACTTGCGATTGGTTGATGCTACAAATGGCAAAGAGAATGCTACGATTGTAGTTGGAGGCTTGGAGGATGCAGCTGCGGTGGACTTTGTGTTTAGTCATGGCTTGATATACTGGAGTGATGTCAGCGAAGAAGCCATTAAACGAACAGAATTTAACAAAACTGAGAGTGTGCAGAATGTTGTTGTTTCTGGATTATTGTCCCCCGATGGGCTGGCATGTGATTGGCTTGGAGAAAAATTGTACTGGACAGATTCTGAAACTAATCGGATTGAAGTTTCTAATTTAGATGGATCTTTACGAAAAGTTTTATTTTGGCAAGAGTTGGATCAACCCAGAGCTATTGCCTTAGATCCTTCAAGTGG
Seq C2 exon
GTTCATGTACTGGACAGACTGGGGAGAAGTGCCAAAGATAGAACGTGCTGGAATGGATGGTTCAAGTCGCTTCATTATAATAAACAGTGAAATTTACTGGCCAAATGGACTGACTTTGGATTATGAAGAACAAAAGCTTTATTGGGCAGATGCAAAACTTAATTTCATCCACAAATCAAATCTGGATGGAACAAATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'0-10,'0-1,7-10
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=0.001 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0005812=Ldl_recept_b=WD(100=31.8),PF0005812=Ldl_recept_b=WD(100=31.1),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=62.7),PF0005812=Ldl_recept_b=PU(53.7=32.8)
Main Skipping Isoform:
ENST00000261349fB19052
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:
CTCGCCTCCCCCACTTCTG
R:
TTGTTCCATCCAGATTTGATTTGTGG
Band lengths:
310-704
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