HsaEX0036466 @ hg19
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
low density lipoprotein receptor-related protein 6 [Source:HGNC Symbol;Acc:6698]
Coordinates
chr12:12356137-12419811:-
Coord C1 exon
chr12:12419615-12419811
Coord A exon
chr12:12397196-12397589
Coord C2 exon
chr12:12356137-12356334
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
GTGCCCCTTTCTTTCTTCTCTCGCTGGGAAGCTGGGAAGTATGAGCGTGCAGCCCTGCCGCTGCGGCGGCCGCCCCGGCTCCTCGCCTCCCCCACTTCTGGCCACCCCTCGCCGGTGAGAGAAGAGAACGCGAGAAGGGAAGATGGGGGCCGTCCTGAGGAGCCTCCTGGCCTGCAGCTTCTGTGTGCTCCTGAGAG
Seq A exon
CGGCCCCTTTGTTGCTTTATGCAAACAGACGGGACTTGCGATTGGTTGATGCTACAAATGGCAAAGAGAATGCTACGATTGTAGTTGGAGGCTTGGAGGATGCAGCTGCGGTGGACTTTGTGTTTAGTCATGGCTTGATATACTGGAGTGATGTCAGCGAAGAAGCCATTAAACGAACAGAATTTAACAAAACTGAGAGTGTGCAGAATGTTGTTGTTTCTGGATTATTGTCCCCCGATGGGCTGGCATGTGATTGGCTTGGAGAAAAATTGTACTGGACAGATTCTGAAACTAATCGGATTGAAGTTTCTAATTTAGATGGATCTTTACGAAAAGTTTTATTTTGGCAAGAGTTGGATCAACCCAGAGCTATTGCCTTAGATCCTTCAAGTGG
Seq C2 exon
GTTCATGTACTGGACAGACTGGGGAGAAGTGCCAAAGATAGAACGTGCTGGAATGGATGGTTCAAGTCGCTTCATTATAATAAACAGTGAAATTTACTGGCCAAATGGACTGACTTTGGATTATGAAGAACAAAAGCTTTATTGGGCAGATGCAAAACTTAATTTCATCCACAAATCAAATCTGGATGGAACAAATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018_MULTIEX1-1/2=C1-2
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=0.000
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=61.5),PF084705=NTNH_C=PU(90.5=87.7),PF0005812=Ldl_recept_b=PU(66.7=33.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTTCTCTCGCTGGGAAGCT
R:
GTTTTGCATCTGCCCAATAAAGCT
Band lengths:
343-737
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)