HsaINT0096213 @ hg38
Intron Retention
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57183379-57183909:+
Coord C1 exon
chr12:57183379-57183510
Coord A exon
chr12:57183511-57183774
Coord C2 exon
chr12:57183775-57183909
Length
264 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
3' ss Seq
GTCACCTCCTCCACCTCCAGAAA
3' ss Score
9.26
Exon sequences
Seq C1 exon
GCGTAGGTTCCTTTCTCCTGTACTCTGTGCATGAGGGAATCAGGGGAATTCCCCTGGATCCCAATGACAAGTCAGATGCCCTGGTCCCAGTGTCCGGGACCTCGCTGGCTGTCGGCATCGACTTCCACGCTG
Seq A exon
GTGAGCCATTTGGTGGCAGAGGGAGTTGGGCGTGGCGTAGGAGCTTTAGGGGTGGTGTGGTGTGCCCTGAGGGTCCAGTGAGAGGCTGCCTGAATTGGCCTGAGGTGGGGCACTTGCTACAGCTGCCACCCTGACTCCACCTCCCCTTCAAGCACCTGGCCCCTCCGGCACTCTCTCACCTCTGTCTTGAGCCTTGTGAGATTTTGACCCCTCACCTTACCCCTGCCTTATTGGGCATCCCCATGTCACCTCCTCCACCTCCAG
Seq C2 exon
AAAATGACACCATCTACTGGGTGGACATGGGCCTGAGCACGATCAGCCGGGCCAAGCGGGACCAGACGTGGCGTGAAGACGTGGTGACCAATGGCATTGGCCGTGTGGAGGGCATTGCAGTGGACTGGATCGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384:ENST00000243077:35
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0005812=Ldl_recept_b=WD(100=89.1),PF0005812=Ldl_recept_b=PU(0.1=0.0)
Main Inclusion 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:
GCGTAGGTTCCTTTCTCCTGT
R:
GATCCAGTCCACTGCAATGCC
Band lengths:
263-527
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development