HsaEX6067340 @ hg38
Exon Skipping
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57175460-57177245:+
Coord C1 exon
chr12:57175460-57175705
Coord A exon
chr12:57175975-57176106
Coord C2 exon
chr12:57177041-57177245
Length
132 bp
Sequences
Splice sites
3' ss Seq
GCGCATCGATCTTCACAAAGGAG
3' ss Score
2.09
5' ss Seq
GAGGTGACC
5' ss Score
5.57
Exon sequences
Seq C1 exon
ACCAGTGCTCTCTGAATAACGGTGGCTGCAGCCACAACTGCTCAGTGGCACCTGGCGAAGGCATTGTGTGTTCCTGCCCTCTGGGCATGGAGCTGGGGCCCGACAACCACACCTGCCAGATCCAGAGCTACTGTGCCAAGCATCTCAAATGCAGCCAAAAGTGCGACCAGAACAAGTTCAGCGTGAAGTGCTCCTGCTACGAGGGCTGGGTCCTGGAACCTGACGGCGAGAGCTGCCGCAGCCTGG
Seq A exon
GAGACTACAGCGTCCTGGTGCCCGGCCTGCGCAACACCATCGCCCTGGACTTCCACCTCAGCCAGAGCGCCCTCTACTGGACCGACGTGGTGGAGGACAAGATCTACCGCGGGAAGCTGCTGGACAACGGAG
Seq C2 exon
CCCTGACTAGTTTCGAGGTGGTGATTCAGTATGGCCTGGCCACACCCGAGGGCCTGGCTGTAGACTGGATTGCAGGCAACATCTACTGGGTGGAGAGTAACCTGGATCAGATCGAGGTGGCCAAGCTGGATGGGACCCTCCGGACCACCCTGCTGGCCGGTGACATTGAGCACCCAAGGGCAATCGCACTGGATCCCCGGGATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'56-52,'56-51,57-52
Average complexity
S*
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:
PF0005713=Ldl_recept_a=PD(4.7=2.4),PF146701=FXa_inhibition=WD(100=44.6),PF146701=FXa_inhibition=WD(100=41.0)
A:
NO
C2:
PF0005812=Ldl_recept_b=WD(100=59.4),PF0005812=Ldl_recept_b=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTTCAGCGTGAAGTGCTCC
R:
GATTGCCCTTGGGTGCTCAAT
Band lengths:
258-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains