Special

HsaINT0096438 @ hg38

Intron Retention

Gene
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169168539-169169818:-
Coord C1 exon
chr2:169169702-169169818
Coord A exon
chr2:169168677-169169701
Coord C2 exon
chr2:169168539-169168676
Length
1025 bp
Sequences
Splice sites
5' ss Seq
GTCGTAAGT
5' ss Score
9.9
3' ss Seq
GTTTTTTTCCCCCATGGCAGCCA
3' ss Score
7.26
Exon sequences
Seq C1 exon
AGATGAGGACCTGCCATCCTGAATATTTTCAGTGTACAAGTGGACATTGTGTACACAGTGAACTGAAATGCGATGGATCCGCTGACTGTTTGGATGCGTCTGATGAAGCTGATTGTC
Seq A exon
GTAAGTCCCTAGACACATATGTAGTACTGCTTACCTGAGAGCATGGATATGATAGTTTAGACATCAGTCCGCTGCCGCTTCTTAGATTAAAAGGCCATAAGTATTGTCTGTTCAGCATGCACTGATAATGATCAGTTCACCTGAGTTCTAAGTCATCATAATCATACATTTCACAATGGCCGTTCAAGTGTACTTCCTTGCTATTTTAAATGGAGAATATATTAAGTAATCTGTGCTAACAAAGTATTTATATATTATCAGCTACTATACAAATCATTAATTAGATAAAAAACATTTCAGGTAAAAAAATATTCAAGCAACGAATACATTAGTATAAAGAACTTGGGTTGGGTATTCGAACATATTGAATTTATAGCATTAAAATTTTTCTCAGTCACACGATGGAGTATAAAAATGATTAAAACTTGAAGGGGGCCAGCCCCTCCACACCTGTAGGTATTTCTCCTCAGGTGGGATGAGAGACTGAGAAGACTGAGAGAGATCAAAATGGAGTTTCTTATGTCTTCCTTTTCTACATAGACACAGTAACTGTCTGATCTTTCTTTTCCCTACAAAAACTGGAAAGCCAACATGATTACTCAGATTTGAGTCTTTATGGATCACTTGAATCAATGCAAACTGTTTATACATCATTATTGCTGATCCATCAACAATAACCATCATCCATGATAACCATCCATGATGGTTATCGTTGATGATGTGGTTGCCAAAGAGACTTTATAAATGTATGTGGGTAAAACCAGTCTTGACATTTGCCTGTAGAGATTAAGTCCAGTGCTGTCCATGCCATGGATGATTCATGCCATTGGAAACTGACTGGGCTCTGACAACTGCCCTTAAGACATAGTCCGTTCAACTTTCAGACAGGTCAAGGCCACTATACATCTTGATGAATAAAGAAGAGCAGGCTATAATGGCAAGAGCCAAAGGAGAAATAGCAGGAAGCTTCCCCAAAGTAGTCAATTTGTATAATAATTTGAATATGTTTTTTTCCCCCATGGCAG
Seq C2 exon
CCACACGCTTTCCTGATGGTGCATACTGCCAGGCTACTATGTTCGAATGCAAAAACCATGTTTGTATCCCGCCATATTGGAAATGTGATGGCGATGATGACTGTGGCGATGGTTCAGATGAAGAACTTCACCTGTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479:ENST00000263816:60
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=92.5)
A:
NA
C2:
PF0005713=Ldl_recept_a=WD(100=83.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGAGGACCTGCCATCC
R:
AGCACAGGTGAAGTTCTTCATCT
Band lengths:
255-1280
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