HsaINT0096210 @ hg38
Intron Retention
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57180330-57180807:+
Coord C1 exon
chr12:57180330-57180479
Coord A exon
chr12:57180480-57180666
Coord C2 exon
chr12:57180667-57180807
Length
187 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGG
5' ss Score
6.74
3' ss Seq
ATCCCCTCCTGCTGCCCCAGGGG
3' ss Score
7.63
Exon sequences
Seq C1 exon
GCCTGGCTATTGACTTCCCTGAAAGCAAACTCTACTGGATCAGCTCCGGGAACCATACCATCAACCGCTGCAACCTGGATGGGAGTGGGCTGGAGGTCATCGATGCCATGCGGAGCCAGCTGGGCAAGGCCACCGCCCTGGCCATCATGG
Seq A exon
GTGAGGGCTGCTGGGCGAAGCAGAGATGACGCAGAGCAGGCCAGGCCAGACCTACTGGGAGACAGGGGCTGGCTTGGGGCAGTCTCTCACCATGTGGGGCGGGCCTGATGACTTAGGGCCAATGGGCCCTTCAGGAGAGCTGGGTGTGGGGCCTTCCCAAGGGTCTCATCCCCTCCTGCTGCCCCAG
Seq C2 exon
GGGACAAGCTGTGGTGGGCTGATCAGGTGTCGGAAAAGATGGGCACATGCAGCAAGGCTGACGGCTCGGGCTCCGTGGTCCTTCGGAACAGCACCACCCTGGTGATGCACATGAAGGTCTATGACGAGAGCATCCAGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384:ENST00000243077:32
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:
PF0005812=Ldl_recept_b=PD(13.2=9.8)
A:
NA
C2:
NO
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:
GCCTGGCTATTGACTTCCCTG
R:
GGGTGGTGCTGTTCCGAAG
Band lengths:
249-436
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