HsaEX6016567 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169175193-169181618:-
Coord C1 exon
chr2:169181448-169181618
Coord A exon
chr2:169177803-169178026
Coord C2 exon
chr2:169175193-169175389
Length
224 bp
Sequences
Splice sites
3' ss Seq
GTTTCTGCTTACTGCTGCAGGTA
3' ss Score
8.82
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
GTACCTCTACTGGGCAGACTGGGGTCACCGCGCATACATTGGGAGAGTAGGCATGGATGGAACCAACAAGTCTGTGATAATCTCCACCAAGTTAGAGTGGCCTAATGGCATCACCATTGATTACACCAATGATCTACTCTACTGGGCAGATGCCCACCTGGGTTACATAGA
Seq A exon
GTACTCTGATTTGGAGGGCCACCATCGACACACGGTGTATGATGGGGCACTGCCTCACCCTTTCGCTATTACCATTTTTGAAGACACTATTTATTGGACAGATTGGAATACAAGGACAGTGGAAAAGGGAAACAAATATGATGGATCAAATAGACAGACACTGGTGAACACAACACACAGACCATTTGACATCCATGTGTACCATCCATATAGGCAGCCCATTG
Seq C2 exon
GTGCATTCCTATCTGGTGGAAATGTGATGGACAGAAAGACTGCTCAGATGGCTCTGATGAACTGGCCCTTTGCCCGCAGCGCTTCTGCCGACTGGGACAGTTCCAGTGCAGTGACGGCAACTGCACCAGCCCGCAGACTTTATGCAATGCTCACCAAAATTGCCCTGATGGGTCTGATGAAGACCGTCTTCTTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479_MULTIEX2-15/16=14-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.039 C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=WD(100=72.4),PF0005812=Ldl_recept_b=PU(31.7=22.4)
A:
PF0005812=Ldl_recept_b=PD(65.9=35.5)
C2:
PF0005713=Ldl_recept_a=PD(61.5=35.8),PF0005713=Ldl_recept_a=WD(100=58.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGAGAGTAGGCATGGATGG
R:
TCAGGGCAATTTTGGTGAGCA
Band lengths:
300-524
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains