Special

HsaINT0096384 @ hg38

Intron Retention

Gene
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169279372-169280519:-
Coord C1 exon
chr2:169280350-169280519
Coord A exon
chr2:169279596-169280349
Coord C2 exon
chr2:169279372-169279595
Length
754 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
3' ss Seq
AATTTTGGTTTTTCTTTCAGGTT
3' ss Score
10.86
Exon sequences
Seq C1 exon
TTGGCGAGGCCTCCATTATCTTCTCCAATGGTCGGGATTTGTTAATTGGTGATATTCATGGAAGGAGCTTCCGGATCCTAGTGGAGTCTCAGAATCGTGGAGTGGCCGTGGGTGTGGCTTTCCACTATCACCTGCAAAGAGTTTTTTGGACAGACACCGTGCAAAATAAG
Seq A exon
GTAAATAGAAATTTCAGTAGCTGAATGGAACCCTGAGCACAAAGTGTTGATAGCTTTTCACTTTTAGAGGGAGTAGAGGGGAAAGTTCCTTTGTTTTCTAACAAAAAAGGCCCTTGAGATATTTTATGTTAATCAGCACCTTTTCCATGCTATACTATTACATGTGACCTATTAAACAAAGCAGTCTATTATATGGATTAGCCTTGAGCAACTTTTAATTTTATTCGAAGTGGAGTCCAGGAGCCTAATTAAAAGAAATAGTAGACATTCTTTCAAAACTGGATAGATATTTGGTAGTAATTTTTGAAATTTGATCATTTAAAATGTAAAAAGCACACTGCTTTTCTGGATGATAAAAATCAGATTTTTACCTGCATCTTCTAAATGGAACTGTAATTCGGGATCGAGTAACAAATATTGACGGTATTTTGTTTAATGGCCCAAATTTTGTTTCACTGTCTTATTTGGAAAGTGTGATGGGTTTAATTTCATCTTGGAGTAATGCAATGGAGATTTTTGAAACATAAATTTCAGAAACTCTTAAAGAGTTATGGAATTTTATTTATTTCTTCTTACATTTTATTATACCATTAATACGATTCTCATTTATTTAAATGATAACTTGCATGAAATTTCTGAAAATTGAGAATTTAGATTTTTAGCACTTCTGATTTGATTATAGCTAAAAAAAATCAAAACAAACCACGTAGTTAGTGATGCTGAAGAAATATAATAATTTTGGTTTTTCTTTCAG
Seq C2 exon
GTTTTTTCAGTTGACATTAATGGTTTAAATATCCAAGAGGTTCTCAATGTTTCTGTTGAAACCCCAGAGAACCTGGCTGTGGACTGGGTTAATAATAAAATCTATCTAGTGGAAACCAAGGTCAACCGCATAGATATGGTAAATTTGGATGGAAGCTATCGGGTTACCCTTATAACTGAAAACTTGGGGCATCCTAGAGGAATTGCCGTGGACCCAACTGTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479:ENST00000263816:11
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=PU(26.8=19.3)
A:
NA
C2:
PF0005812=Ldl_recept_b=PD(68.3=37.3),PF0005812=Ldl_recept_b=WD(100=54.7),PF0005812=Ldl_recept_b=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCAATGGTCGGGATTTGT
R:
GCAATTCCTCTAGGATGCCCC
Band lengths:
355-1109
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