HsaEX6016529 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169275036-169280519:-
Coord C1 exon
chr2:169280350-169280519
Coord A exon
chr2:169279372-169279595
Coord C2 exon
chr2:169275036-169275238
Length
224 bp
Sequences
Splice sites
3' ss Seq
AATTTTGGTTTTTCTTTCAGGTT
3' ss Score
10.86
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
TTGGCGAGGCCTCCATTATCTTCTCCAATGGTCGGGATTTGTTAATTGGTGATATTCATGGAAGGAGCTTCCGGATCCTAGTGGAGTCTCAGAATCGTGGAGTGGCCGTGGGTGTGGCTTTCCACTATCACCTGCAAAGAGTTTTTTGGACAGACACCGTGCAAAATAAG
Seq A exon
GTTTTTTCAGTTGACATTAATGGTTTAAATATCCAAGAGGTTCTCAATGTTTCTGTTGAAACCCCAGAGAACCTGGCTGTGGACTGGGTTAATAATAAAATCTATCTAGTGGAAACCAAGGTCAACCGCATAGATATGGTAAATTTGGATGGAAGCTATCGGGTTACCCTTATAACTGAAAACTTGGGGCATCCTAGAGGAATTGCCGTGGACCCAACTGTTGG
Seq C2 exon
GAAGACTGTAGTTCATGGAGGCTCCCTCATTCCTCATCCCTTTGGAGTAAGCTTATTTGAAGGTCAGGTGTTCTTTACAGATTGGACAAAGATGGCCGTGCTGAAGGCAAACAAGTTCACAGAGACCAACCCACAAGTGTACTACCAGGCTTCCCTGAGGCCCTATGGAGTGACTGTTTACCATTCCCTCAGACAGCCCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'15-15,'15-12,16-15=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:
PF0005812=Ldl_recept_b=PU(26.8=19.3)
A:
PF0005812=Ldl_recept_b=PD(68.3=37.3),PF0005812=Ldl_recept_b=WD(100=54.7),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=PD(46.5=29.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTCCGGATCCTAGTGGAGT
R:
TAGGGCTGTCTGAGGGAATGG
Band lengths:
305-529
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains