HsaEX1022176 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12186923-12203400:-
Coord C1 exon
chr12:12203203-12203400
Coord A exon
chr12:12201797-12202539
Coord C2 exon
chr12:12186923-12187119
Length
743 bp
Sequences
Splice sites
3' ss Seq
TATTTACGTATTTATTTTAGACA
3' ss Score
6.83
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GTTCATGTACTGGACAGACTGGGGAGAAGTGCCAAAGATAGAACGTGCTGGAATGGATGGTTCAAGTCGCTTCATTATAATAAACAGTGAAATTTACTGGCCAAATGGACTGACTTTGGATTATGAAGAACAAAAGCTTTATTGGGCAGATGCAAAACTTAATTTCATCCACAAATCAAATCTGGATGGAACAAATCG
Seq A exon
ACAGAGTCTCACCTTGTCATCCGGGCTGGAATGCAGTAGCGTGATCTCAGCTCACTGCAACCTCTGTCTCCTGGGCTCAAGCGATCTTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTATAGGCACACGCCATCACACCGGGCTAATTTTTGTCATTTTTGTAAAGATGGCGTCTCACCATGTTGCCCAGGCTGGTCTTATGCCCTGAGCTCCAAGTGATTCACCGGCCTCGGCCTCCGAAAGTGCTAGAATTACAGGCATCAGCCATAGCACCTGGTGTAAAACTTTATTTGTAAAGCAGAATGAGCCTGTGGGCTGTAGTTTGCTCATCTCTGGACAAGGAGAAAACCTACTGCATATACCATACATTTCAGTGTTCAAGGAAGACAAAGTCTGTAAAACATAAACATGGAATTTCTTCTCAGATTATGTTCAGATTTTTAAAGACATTTTATATTTGGATTCTTGTGTTTTAATGATAATTTTGGTTTTTGATCTCAATCTGAGACCTCACCAGATGAGAGTTTTTGGTGACTGTAGGATTTTTTCAAAGTATAATAAACATTTGTCAATTACCTGAACTAAGAATAAGGAACATTTAGAAGTATTGAAAACCAGGAAAGATATAAAGAATTCAGTTAAACTTTTTGTAATCATGGAGTTGGAGTATTTTTTGCCTTCTTTCAAAAAAGAGTGAAATGACATATAACAATGTGGTTTTAAGTAAATTTAAATGTCAAAAA
Seq C2 exon
GCAGGCAGTGGTTAAAGGTTCCCTTCCACATCCTTTTGCCTTGACGTTATTTGAGGACATATTGTACTGGACTGACTGGAGCACACACTCCATTTTGGCTTGCAACAAGTATACTGGTGAGGGTCTGCGTGAAATCCATTCTGACATCTTCTCTCCCATGGATATACATGCCTTCAGCCAACAGAGGCAGCCAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018_MULTIEX1-4/4=3-C2
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=0.009
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=WD(100=62.7),PF0005812=Ldl_recept_b=PU(53.7=32.8)
A:
PF0005812=Ldl_recept_b=PD(20.7=8.6)
C2:
PF0005812=Ldl_recept_b=PD(43.9=26.9)
Main Inclusion Isoform:
ENST00000261349fB19053
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
ACGTGCTGGAATGGATGGTTC
R:
CATTTGGCTGCCTCTGTTGG
Band lengths:
353-1096
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains