HsaEX0036463 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12181043-12187119:-
Coord C1 exon
chr12:12186923-12187119
Coord A exon
chr12:12183980-12184111
Coord C2 exon
chr12:12181043-12181439
Length
132 bp
Sequences
Splice sites
3' ss Seq
ATGTGATTTATATTTGACAGCCA
3' ss Score
4.54
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
GCAGGCAGTGGTTAAAGGTTCCCTTCCACATCCTTTTGCCTTGACGTTATTTGAGGACATATTGTACTGGACTGACTGGAGCACACACTCCATTTTGGCTTGCAACAAGTATACTGGTGAGGGTCTGCGTGAAATCCATTCTGACATCTTCTCTCCCATGGATATACATGCCTTCAGCCAACAGAGGCAGCCAAATG
Seq A exon
CCACAAATCCATGTGGAATTGACAATGGGGGTTGTTCCCATTTGTGTTTGATGTCTCCAGTCAAGCCTTTTTATCAGTGTGCTTGCCCCACTGGGGTCAAACTCCTGGAGAATGGAAAAACCTGCAAAGATG
Seq C2 exon
GTGCCACAGAATTATTGCTTTTAGCTCGAAGGACAGACTTGAGACGCATTTCTTTGGATACACCAGATTTTACAGACATTGTTCTGCAGTTAGAAGACATCCGTCATGCCATTGCCATAGATTACGATCCTGTGGAAGGCTACATCTACTGGACTGATGATGAAGTGAGGGCCATACGCCGTTCATTTATAGATGGATCTGGCAGTCAGTTTGTGGTCACTGCTCAAATTGCCCATCCTGATGGTATTGCTGTGGACTGGGTTGCACGAAATCTTTATTGGACAGACACTGGCACTGATCGAATAGAAGTGACAAGGCTCAATGGGACCATGAGGAAGATCTTGATTTCAGAGGACTTAGAGGAACCCCGGGCTATTGTGTTAGATCCCATGGTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018_MULTIEX5-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=0.044 C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=PD(43.9=26.9)
A:
PF146701=FXa_inhibition=WD(100=84.4)
C2:
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)
Main Skipping Isoform:
NA
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:
ACATGCCTTCAGCCAACAGAG
R:
GTGACCACAAACTGACTGCCA
Band lengths:
252-384
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