HsaEX6016563 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169176411-169207250:-
Coord C1 exon
chr2:169206330-169207250
Coord A exon
chr2:169187970-169188265
Coord C2 exon
chr2:169176411-169176588
Length
296 bp
Sequences
Splice sites
3' ss Seq
TACTGGATCTCATGATACAGGTG
3' ss Score
5
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GAAAAAGATCTTCCAAGCCAGCAAGGAACCAGAGAACACAGAGCCACCCACAGTGATAAGAGACAATATCAACTGGCTAAGAGATGTGACCATCTTTGACAAGCAAGTCCAGCCCCGGTCACCAGCAGAGGTCAACAACAACCCTTGCTTGGAAAACAATGGTGGGTGCTCTCATCTCTGCTTTGCTCTGCCTGGATTGCACACCCCAAAATGTGACTGTGCCTTTGGGACCCTGCAAAGTGATGGCAAGAATTGTGCCATTTCAACAGAAAATTTCCTCATCTTTGCCTTGTCTAATTCCTTGAGAAGCTTACACTTGGACCCTGAAAACCATAGCCCACCTTTCCAAACAATAAATGTGGAAAGAACTGTCATGTCTCTAGACTATGACAGTGTAAGTGATAGAATCTACTTCACACAAAATTTAGCCTCTGGAGTTGGACAGATTTCCTATGCCACCCTGTCTTCAGGGATCCATACTCCAACTGTCATTGCTTCAG
Seq A exon
GTGTGACCGGCACAATGACTGTGGTGACTATAGCGACGAGAGGGGCTGCTTATACCAGACTTGCCAACAGAATCAGTTTACCTGTCAGAACGGGCGCTGCATTAGTAAAACCTTCGTCTGTGATGAGGATAATGACTGTGGAGACGGATCTGATGAGCTGATGCACCTGTGCCACACCCCAGAACCCACGTGTCCACCTCACGAGTTCAAGTGTGACAATGGGCGCTGCATCGAGATGATGAAACTCTGCAACCACCTAGATGACTGTTTGGACAACAGCGATGAGAAAGGCTGTG
Seq C2 exon
TGAGCAATCCCTGTGGTACCAACAATGGTGGCTGTTCTCATCTCTGCCTCATCAAGCCAGGAGGAAAAGGGTTCACTTGCGAGTGTCCAGATGACTTCCGCACCCTTCAGCTGAGTGGCAGCACCTACTGCATGCCCATGTGCTCCAGCACCCAGTTCCTGTGCGCTAACAATGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479_MULTIEX2-11/16=C1-16
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.062 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=WD(100=13.6),PF146701=FXa_inhibition=WD(100=12.0)
A:
PF0005713=Ldl_recept_a=PD(43.2=16.0),PF0005713=Ldl_recept_a=WD(100=39.0),PF0005713=Ldl_recept_a=WD(100=37.0)
C2:
PF146701=FXa_inhibition=WD(100=66.7),PF0005713=Ldl_recept_a=PU(35.9=23.3)
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:
TTGGGACCCTGCAAAGTGATG
R:
TGGTACCACAGGGATTGCTCA
Band lengths:
297-593
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains