HsaEX6016533 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169257124-169273067:-
Coord C1 exon
chr2:169272927-169273067
Coord A exon
chr2:169259025-169259217
Coord C2 exon
chr2:169257124-169257249
Length
193 bp
Sequences
Splice sites
3' ss Seq
GTCCATATTTTAACTTATAGGAA
3' ss Score
7.92
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
CTACCAATCCGTGTAAAGATAACAATGGGGGCTGTGAGCAGGTCTGTGTCCTCAGCCACAGAACAGATAATGATGGTTTGGGTTTCCGTTGCAAGTGCACATTCGGCTTCCAACTGGATACAGATGAGCGCCACTGCATTG
Seq A exon
GAAGAGAAATTCTCGCAGCTAACAGGGTGGAAAATGTTGAAAGTTTGGCTTTTGATTGGATTTCAAAGAATCTCTATTGGACAGACTCTCATTACAAGAGTATCAGTGTCATGAGGCTAGCTGATAAAACGAGACGCACAGTAGTTCAGTATTTAAATAACCCACGGTCGGTGGTAGTTCATCCTTTTGCCGG
Seq C2 exon
GTATCTATTCTTCACTGATTGGTTCCGTCCTGCTAAAATTATGAGAGCATGGAGTGACGGATCTCACCTCTTGCCTGTAATAAACACTACTCTTGGATGGCCCAATGGCTTGGCCATCGATTGGGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'19-21,'19-20,23-21=AN
Average complexity
A_C3
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:
PF146701=FXa_inhibition=WD(100=87.5)
A:
PF0005812=Ldl_recept_b=WD(100=61.5),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=97.7)
Main Skipping Isoform:
ENST00000263816fB19035
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAATCCGTGTAAAGATAACAATGGG
R:
TGGGCCATCCAAGAGTAGTGT
Band lengths:
242-435
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains