Special

HsaINT0096218 @ hg38

Intron Retention

Gene
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57143679-57145100:+
Coord C1 exon
chr12:57143679-57143798
Coord A exon
chr12:57143799-57144971
Coord C2 exon
chr12:57144972-57145100
Length
1173 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGT
5' ss Score
9.79
3' ss Seq
TCTTGCCCTTTCCTCGGCAGATT
3' ss Score
11.29
Exon sequences
Seq C1 exon
AGCTCCAAGGCAACTGCTCTCGCCTGGGCTGCCAGCACCATTGTGTCCCCACACTCGATGGGCCCACCTGCTACTGCAACAGCAGCTTTCAGCTTCAGGCAGATGGCAAGACCTGCAAAG
Seq A exon
GTATGTGAGTGCATGTGCCTGTGTGCATGTGTGTGTGCCAGTAGCCAGTTGAGGTGGGCAGGGAGGGGCAGAGAGGGGTAGGGGGCCTGGCTGGAATAAGAAACTAGAAGGAAGGTGCAAGAGAGGGGGTGCCACCACCCCAGGGCATGACTGTGAGCCCTAACCATTTGCTTCCACTAGACTTCTAAAAATTCACCTTAAAATTATAGTTTATATGTAAATTTTTCTGTTGTAAAAAATTAGAGCATTAACAGATAAAACCAAAGTCCCCTTTGACAAATCCCCCTCAATTCCGGTCCCCTTCCCATCTCCCTGGAGTTCAACTCTATTATCAGTTTGCTCTCTCTCTTTCAGGCCCTTTTTTGTGCATTTGTCTCTGGGTATTCACAGAAAATCTAATTGGAAGTACTGCTCAAGAGTACTGCGTGCTCTTTTTTACATAAACAATAGTATACTGTGTATATTATTTTCAATGTTTTTCACTCATCAGTATGTTCCACAATTTTTTTTTCTGTGTTAATATGTAAAGATCTACATCATTCTTTTAGAAACCACTATGACGTATGACTTTTACCACAGTTTACTTGGTCACCTCCCTGTTGATGAGTGAGATGTTCCCAATTTTTCACTGCTACAAGCAATGCAAACTTTTCTGTTTTAAATTTGCCTCCCTCGGGTCTTTGTGCAAATGCCACCTTCTCAGTGAAGCCGTCCCCCGACCCCTCTAAAACTGCATCCCTGCCATCTGCATTCTCTATCCCTGTTCTCTTTTCATTGCACTAGCACCTCTAATGTATACTTTATTTACTTTGTTTCATATGTTATTATAGTAACTATATTTCATTTATTATCTGAATATAAGTTTCATGAGGACAGCAATGTGGGTCTATTTTAAAGTTCACTGATGCACCCCTGGCACCTGACCCATAGTAGGGACTCAATAAATCTTCCCTGCGTGGATGAGTGATATGTACACGAGTGTTTCTCTAGAGTGGATTCCAAGACTGGACTTGCTGGGTGTTAAGGTTTGCACATTTCATGCTGTAATAGATTCTGCCGAACTGTCCTTCAAGGTAGCTGTAAGGATGGACATGTTGATCATGTCTGATGATCACCCACTTCGTTGCCCTTGTCACACTGGAAATGACCACATTCTTGCCCTTTCCTCGGCAG
Seq C2 exon
ATTTTGATGAGTGCTCAGTGTACGGCACCTGCAGCCAGCTATGCACCAACACAGACGGCTCCTTCATATGTGGCTGTGTTGAAGGATACCTCCTGCAGCCGGATAACCGCTCCTGCAAGGCCAAGAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384:ENST00000243077:4
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:
PF146701=FXa_inhibition=PD(92.7=92.7)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=79.5)


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:
GCAACTGCTCTCGCCTGG
R:
CGTTCTTGGCCTTGCAGGAG
Band lengths:
240-1413
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