Special

HsaINT0096229 @ hg38

Intron Retention

Gene
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57144972-57145490:+
Coord C1 exon
chr12:57144972-57145100
Coord A exon
chr12:57145101-57145226
Coord C2 exon
chr12:57145227-57145490
Length
126 bp
Sequences
Splice sites
5' ss Seq
ACGGTGGGT
5' ss Score
8.27
3' ss Seq
CTTCTCTTCCCCATTCCCAGAGC
3' ss Score
8.98
Exon sequences
Seq C1 exon
ATTTTGATGAGTGCTCAGTGTACGGCACCTGCAGCCAGCTATGCACCAACACAGACGGCTCCTTCATATGTGGCTGTGTTGAAGGATACCTCCTGCAGCCGGATAACCGCTCCTGCAAGGCCAAGAACG
Seq A exon
GTGGGTGGGGTTGCCTCTGGCCACAGTGCTAACTAAGCCCCCTCAATGCTGTTCCCTGGTGGGTGGTGGCCTGAGAGGTGGTCCTAGAGCCCTGGCTGCACGGACTCTTCTCTTCCCCATTCCCAG
Seq C2 exon
AGCCAGTAGACCGGCCCCCTGTGCTGTTGATAGCCAACTCCCAGAACATCTTGGCCACGTACCTGAGTGGGGCCCAGGTGTCTACCATCACACCTACGAGCACGCGGCAGACCACAGCCATGGACTTCAGCTATGCCAACGAGACCGTATGCTGGGTGCATGTTGGGGACAGTGCTGCTCAGACGCAGCTCAAGTGTGCCCGCATGCCTGGCCTAAAGGGCTTCGTGGATGAGCACACCATCAACATCTCCCTCAGTCTGCACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384:ENST00000243077:5
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=0.009
Domain overlap (PFAM):

C1:
PF146701=FXa_inhibition=WD(100=79.5)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGAGTGCTCAGTGTACGGC
R:
GAAGTCCATGGCTGTGGTCTG
Band lengths:
252-378
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development