HsaEX0036465 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12165079-12181439:-
Coord C1 exon
chr12:12181043-12181439
Coord A exon
chr12:12179810-12179981
Coord C2 exon
chr12:12165079-12165295
Length
172 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGTATACTTCTCTAGGTA
3' ss Score
10.46
5' ss Seq
GAGGTTTGT
5' ss Score
6.36
Exon sequences
Seq C1 exon
GTGCCACAGAATTATTGCTTTTAGCTCGAAGGACAGACTTGAGACGCATTTCTTTGGATACACCAGATTTTACAGACATTGTTCTGCAGTTAGAAGACATCCGTCATGCCATTGCCATAGATTACGATCCTGTGGAAGGCTACATCTACTGGACTGATGATGAAGTGAGGGCCATACGCCGTTCATTTATAGATGGATCTGGCAGTCAGTTTGTGGTCACTGCTCAAATTGCCCATCCTGATGGTATTGCTGTGGACTGGGTTGCACGAAATCTTTATTGGACAGACACTGGCACTGATCGAATAGAAGTGACAAGGCTCAATGGGACCATGAGGAAGATCTTGATTTCAGAGGACTTAGAGGAACCCCGGGCTATTGTGTTAGATCCCATGGTTGG
Seq A exon
GTACATGTATTGGACTGACTGGGGAGAAATTCCGAAAATTGAGCGAGCAGCTCTGGATGGTTCTGACCGTGTAGTATTGGTTAACACTTCTCTTGGTTGGCCAAATGGTTTAGCCTTGGATTATGATGAAGGCAAAATATACTGGGGAGATGCCAAAACAGACAAGATTGAG
Seq C2 exon
GTTATGAATACTGATGGCACTGGGAGACGAGTACTAGTGGAAGACAAAATTCCTCACATATTTGGATTTACTTTGTTGGGTGACTATGTTTACTGGACTGACTGGCAGAGGCGTAGCATTGAAAGAGTTCATAAACGAAGTGCAGAGAGGGAAGTGATCATAGATCAGCTGCCTGACCTCATGGGCCTAAAGGCTACAAATGTTCATCGAGTGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018_MULTIEX2-1/3=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:
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)
A:
PF0005812=Ldl_recept_b=WD(100=72.4),PF0005812=Ldl_recept_b=PU(33.3=22.4)
C2:
PF0005812=Ldl_recept_b=PD(61.5=32.9)
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:
GGACTGGGTTGCACGAAATCT
R:
CCTCTGCCAGTCAGTCCAGTA
Band lengths:
255-427
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