HsaEX6016544 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169231714-169236068:-
Coord C1 exon
chr2:169235840-169236068
Coord A exon
chr2:169233411-169233588
Coord C2 exon
chr2:169231714-169231842
Length
178 bp
Sequences
Splice sites
3' ss Seq
TGTTCTCTTCTGCCTCACAGATT
3' ss Score
10.42
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
TGAGCATCTACTGTTCTGGTCTGACTGGGGCCACCACCCTCGCATCGAGCGAGCCAGCATGGACGGCAGCATGCGCACTGTCATTGTCCAGGACAAGATCTTCTGGCCCTGCGGCTTAACTATTGACTACCCCAACAGACTGCTCTACTTCATGGACTCCTATCTTGATTACATGGACTTTTGTGATTATAATGGACACCATCGGAGACAGGTGATAGCCAGTGATTTG
Seq A exon
ATTATACGGCACCCCTATGCCCTAACTCTCTTTGAAGACTCTGTGTACTGGACTGACCGTGCTACTCGTCGGGTTATGCGAGCCAACAAGTGGCATGGAGGGAACCAGTCAGTTGTAATGTATAATATTCAATGGCCCCTTGGGATTGTTGCGGTTCATCCTTCGAAACAACCAAATT
Seq C2 exon
CCGTGAATCCATGTGCCTTTTCCCGCTGCAGCCATCTCTGCCTGCTTTCCTCACAGGGGCCTCATTTTTACTCCTGTGTTTGTCCTTCAGGATGGAGTCTGTCTCCTGATCTCCTGAATTGCTTGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'39-40,'39-39,40-40=AN
Average complexity
A_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=54.5)
A:
NO
C2:
PF146701=FXa_inhibition=WD(100=90.9)
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:
ACTGTTCTGGTCTGACTGGGG
R:
GCGGGAAAAGGCACATGGATT
Band lengths:
246-424
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains