Special

HsaINT0096232 @ hg38

Intron Retention

Gene
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57195271-57195780:+
Coord C1 exon
chr12:57195271-57195399
Coord A exon
chr12:57195400-57195657
Coord C2 exon
chr12:57195658-57195780
Length
258 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
GTGTCCACCTCTGTCCACAGTGT
3' ss Score
9.66
Exon sequences
Seq C1 exon
AAGGCAAGACGTGCGGCCCCTCCTCCTTCTCCTGCCCTGGCACCCACGTGTGCGTCCCCGAGCGCTGGCTCTGTGACGGTGACAAAGACTGTGCTGATGGTGCAGACGAGAGCATCGCAGCTGGTTGCT
Seq A exon
GTGAGTGGCGGGGCCACGTGGAGCGGGTGGACAGCAAATGGCCACAGTCTCACTTTGCAGATGGGGAAGCCGGGGTGCAGGAGAGGAAATGCCTCAGCGGGGTCCACTGGGGGCGGAGCCATAGCTGTAGCCCAGGTGTCCAGACTCCTCATCCAGTGCCCTGCCCACTCTACCAGGAGAACCACAGGAGGTTAGAGTGAGGGACGGTCGGCCGCTGGCCAGGCAGGGCTGAAGGGCTGTGTCCACCTCTGTCCACAG
Seq C2 exon
TGTACAACAGCACTTGTGACGACCGTGAGTTCATGTGCCAGAACCGCCAGTGCATCCCCAAGCACTTCGTGTGTGACCACGACCGTGACTGTGCAGATGGCTCTGATGAGTCCCCCGAGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384:ENST00000243077:52
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:
PF0005713=Ldl_recept_a=WD(100=93.2)
A:
NA
C2:
PF0005713=Ldl_recept_a=WD(100=90.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCCTCCTCCTTCTCCTG
R:
ACACTCGGGGGACTCATCAG
Band lengths:
236-494
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