HsaINT0096458 @ hg38
Intron Retention
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169289026-169290997:-
Coord C1 exon
chr2:169290845-169290997
Coord A exon
chr2:169289146-169290844
Coord C2 exon
chr2:169289026-169289145
Length
1699 bp
Sequences
Splice sites
5' ss Seq
GTAGTGAGT
5' ss Score
5.8
3' ss Seq
AAGTTCTTTTCTTCGTTTAGGTA
3' ss Score
7.51
Exon sequences
Seq C1 exon
AAAGCGGTCCTCATGATGTTCATAAATGTTCCCCAAGAGAATGGTCTTGCCCAGAGTCGGGACGATGCATCTCCATTTATAAAGTTTGTGATGGGATTTTAGATTGCCCAGGAAGAGAAGATGAAAACAACACTAGTACCGGAAAATACTGTA
Seq A exon
GTGAGTATAGACATTTACCTGGGTAGCTTTCAGATAAAGATATTTCTGTTTTCTAGAACAGACGTTCAAATACAGTGTATCTGTTGGCATTTGCATAACAAAGCACCCCAAGACTTAGTGGCATAAACTGAGAAACGTGTCTTATTTCTCACAGTTCTGTGGGTTGGCTAGGTAGTTCCTCTGGCCTGTATCAGCTCACTCACACGTCAGGATGTTGCAGTAAAAGCTTGGGCTAGCCTAGCCTTGTTGACCCAGAGGCTGAAAGAGCAAATCCTAGGGCTCAAGTACTTTCAAGGTTCTACTTATGCCAAGTTTGCTCAAGTCTTATTGTCCAAAGCAAGACACTTGGCCAAACCCAGAGTGGATGGAAGAAATAGACTCCATCTATTGATGGGAAGAGCCTAACAATTTTTTAGCAACTCCCCGTTCCTAATCCCTAACGCACACACAGGGAGGATTGTTTCAATGGCAATTTTGATGACCTTAAAGATGTTCTGGAGATTTTATTACCTGGCTTATACTTATGGAAAAAGGCCTTGTCTGGCTGTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCTGGTTCCTGGGTTATGTACCTTGAGTTACTCTCCAATGGCAAAACTGAGTTGGCCATGCACAGTGTTGTTCGATTATGTCTTGTGTGACCACATTCATTTATGAGGAAACTGACTGGAACTAGGGATTTTTTTTCTCCTTTTTTGGGGCTGTAGAATATTCACCCCACCAACAACCCATCAACTCTGTGGACAGCTGATGGTCCTGTAAGGAAATGCCATTTAAAACCTTGATTTCATCAATAATATACTCTAACTAAATTTGTGATTGCCTAGAAGTGCCCATGTAACTGCAACCCCAAGGTTATTTTTTGTTTCCTGACAAAAATTGTACATAATATTTAAACAGGCAGAGACCTCTATGGCATTTTTTTCTCTATTTCATTTGGGAGCCCATTTAAAAAAGCTTAAAAATTAATAAGAGATATGTAGTCACAGTATGAAAGTTGGAAAATAAAAATTAACCAAAAGAAAAAAATATAATCACCTGAAATCCCATCTCTTGAAGCCAGCCACAGTTAATATTTCTAGGGCTTATTCTTGCTCCAGTCACTTGGGAGTTCTTAGCCCTTTTTACTATGTAGACACAAAGATAGACCCATGCATGACCTGATTTTTTTTTCATAAATAAGACTTTTAATGACTTATACTTGCACATAGTTATAACTTTAAAAAGGAGCTTTTTCTTTTCTTTTGTTTCCACTCAAGGCAGCCTCTTGTTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCATCTTTTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGTTGTGAGCCACTGTGCCTGGCTAATGCTTTTATTTTTAATTTTTTGTGAATATGAGGTGTAGCTACATTACCCAGGCTGGTCTTGATCTCCTGGCTTCAAGCAATCTTCCTGTCTCAGTTGAACTTTTATTGCAAAGTTTTGCAGTAAGCTTTGAAGGGTGACAGATTTTTCTGTACATCTACTTCATGCTTACTGAGCTGCTACTCATGGAAAAAGAAGCTATTAGATTAATCAGTCTTGTCCAGAGGTCACCATTCATTTAACAAAGTTCTTTTCTTCGTTTAG
Seq C2 exon
GTATGACTCTGTGCTCTGCCTTGAACTGCCAGTACCAGTGCCATGAGACGCCGTATGGAGGAGCGTGTTTTTGTCCCCCAGGTTATATCATCAACCACAATGACAGCCGTACCTGTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479:ENST00000263816:8
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=84.6)
A:
NA
C2:
PF126622=cEGF=PU(86.4=46.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGCGGTCCTCATGATGTTCA
R:
ACACAGGTACGGCTGTCATTG
Band lengths:
270-1969
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