HsaEX6016565 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169175193-169186019:-
Coord C1 exon
chr2:169185503-169186019
Coord A exon
chr2:169182167-169182319
Coord C2 exon
chr2:169175193-169175389
Length
153 bp
Sequences
Splice sites
3' ss Seq
CTCCTGGCTCTCCATTTTAGAAA
3' ss Score
9.82
5' ss Seq
TGGGTATTG
5' ss Score
2.85
Exon sequences
Seq C1 exon
GACCCTTCAATCAGTGGCTGCGATCACAACTGCACAGACACCTTAACCAGTTTCTATTGTTCCTGTCGTCCTGGTTACAAGCTCATGTCTGACAAGCGGACTTGTGTTGATATTGATGAATGCACAGAGATGCCTTTTGTCTGTAGCCAGAAGTGTGAGAATGTAATAGGCTCCTACATCTGTAAGTGTGCCCCAGGCTACCTCCGAGAACCAGATGGAAAGACCTGCCGGCAAAACAGTAACATCGAACCCTATCTCATTTTTAGCAACCGTTACTATTTGAGAAATTTAACTATAGATGGCTATTTTTACTCCCTCATCTTGGAAGGACTGGACAATGTTGTGGCATTAGATTTTGACCGAGTAGAGAAGAGATTGTATTGGATTGATACACAGAGGCAAGTCATTGAGAGAATGTTTCTGAATAAGACAAACAAGGAGACAATCATAAACCACAGACTACCAGCTGCAGAAAGTCTGGCTGTAGACTGGGTTTCCAG
Seq A exon
AAAGCTCTACTGGTTGGATGCCCGCCTGGATGGCCTCTTTGTCTCTGACCTCAATGGTGGACACCGCCGCATGCTGGCCCAGCACTGTGTGGATGCCAACAACACCTTCTGCTTTGATAATCCCAGAGGACTTGCCCTTCACCCTCAATATGG
Seq C2 exon
GTGCATTCCTATCTGGTGGAAATGTGATGGACAGAAAGACTGCTCAGATGGCTCTGATGAACTGGCCCTTTGCCCGCAGCGCTTCTGCCGACTGGGACAGTTCCAGTGCAGTGACGGCAACTGCACCAGCCCGCAGACTTTATGCAATGCTCACCAAAATTGCCCTGATGGGTCTGATGAAGACCGTCTTCTTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479_MULTIEX2-13/16=12-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126622=cEGF=WD(100=13.9),PF146701=FXa_inhibition=WD(100=20.8),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=94.2),PF0005812=Ldl_recept_b=PU(0.1=0.0)
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:
GGACTGGACAATGTTGTGGCA
R:
GCAAAGGGCCAGTTCATCAGA
Band lengths:
246-399
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains