HsaINT0096543 @ hg38
Intron Retention
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12131821-12135300:-
Coord C1 exon
chr12:12135175-12135300
Coord A exon
chr12:12132058-12135174
Coord C2 exon
chr12:12131821-12132057
Length
3117 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
3' ss Seq
TTCTCCTTGTTCATTTGAAGAAC
3' ss Score
7.06
Exon sequences
Seq C1 exon
GACAGCACCCTTGTGCTCAGGATAATGGTGGCTGTTCACATATTTGTCTTGTAAAGGGGGATGGTACTACAAGGTGTTCTTGCCCCATGCACCTGGTTCTACTTCAAGATGAGCTATCATGTGGAG
Seq A exon
GTAAATATGTTGTAATTTTCTTGTGCAACCCTAAATGCAAACATATTCCATATCTTAAGCCTAGACTTCTATGACTAGGCATTGAAGTTGCTCTGTCTACTAACTTAATTGGTTGCGTGTGTTCCATTCATTTGTATTGTACTAGGCTTTTCTGTTATTCTTCTCTGCCACCCTGCCCAGCCTCATAATCATCATTTTACTCTGTTTCTTTGACTTTTTTACACTCCACGTGTGAGATCATGTAGTATTTGTGTTTCTATGCCTAGCTTATTTCACTTAACAGGATGACTTCCAGGTTCATCTGTGTTGTTGCAAATGACAGGATTTCCTACTTTTTTTGACTGAATAGTATTTCACTGCGTATATATTACCACACTTTTCAGCCTGTGAATGAGTATGCTTCCTAATATTAAAGTAGCCTCCCCCCTCTCCCAAAAGGTAAAAAAATGAATTAATTCTACCTCCTGTAATCTCTCTCCACTAAATTGTAGATTCTCTAAGTTTATGTGTCATTGTTGGGAATGTGTCTGATGGAAAGAATATTCTTTTGTTCAAATCCATCAGCAAATTCCTGTTGCTTCTTTATCTAGTAAAAAATGATTTTTTAAAAGATATCACTGAGTATAGTGATACTGTTGTAGTAAAATTGGTTTAATCACTTAGCAGGTTTAACAAATAGATACATTCCATTGTTAAATTATAGTATGATGGTATCAGGCACCACAATAGTATTCATACCCTTAATTCAGATATCCTCCTTTTGGGGATAATTCTAAGTTAATTCAACTGAAGGAAAAAGACTACATCATACTATTATCTACAGTGGCAGAAATTTTTAAATGAATTTCTAATGGTGTGAAAATTATTAAGTAAAATAACTGAGTTTATACAGCTATTAAATGTTATAATCATGAAGTTGATGTAAAAATGTTGCCAAAATGACAAGTACATAAAATATATATTTCTGTAAACAAATATTGAAAGAGAATATGTATTCAACATATAAAAATTGTTGATCGGGTGGGTGGGATTACAAGTAAATTTTATTCGTCGAACTATAAGTTTTTTAAAAAATAAATAATGCATGTATTCAGTAGCAGCTATGGGCACTGTGCTTGGACCGTAGGGGATTTGAAGATCTTTGAGATAGCATACAGCGTAGTCAGGGAAATCAGATATGTACAAAGAGTTAAGCTCTGGTACTTGAAATTTTTAAAAATAGGGATTGCACAATAATGTGAATGTACTTAATGTCATTGAGCTATGCACTTTAAAGTGGTTAAATTGGTCAATTTTATGGTTACTTTACCCTCCCCCCCCCCCCCCCCCAAAAAATAGCATGTGTTTCCCTATCAGGGTGCTGGAGTGTTACTTTGAGGCAAATCCTAGAAAAATTTCTCTTTATGTTAATGATAACATGGATAAAACTGAGTCAAGGATCTCATCTTCCAGTTTGAAAATATCTTTTAAAGGGCCTTTTTTCTTGCTTGCACATTTAGCAATTATTTTTAATGTATGTATTAAAACGAGTTTTGACAGATGTATACAACTGTGTATTAGGCCATTCTTGCATTGCTATAAAGAAATACCTGAGGCTGGGTAACTTATAAAGAAAAAGTTTAATTGGCTCATGGTTCTGCCGGCTGTATTGTTCAGCTTCTGGATAGGCCTCAGGAAACTTTGATGGCGGGGGTGAAGAGTGAGCAGGCAGGTCACATGGCAAAAGAGGGAGCAAGAGAGAGAGAGTAGGCTAGAGGGAGTGCCACACACTTTTAAACAACCAGCTCTCCCAAGAATTCATTTACTATCAGGAGGATAGCACCAAGGCATGAGGGATCTACCCCCCATGATCCAAACACTTCCCACCAGGCCTCACTTCCAACATTGGGGATTACATTTCAACATGAGATTTGGAGGGACAAATATCCAAACTATATCACACGGTTTGCATGACATGCAGTTCAAAGTAGTGTCCTTTGTTTTATGTTTATTAGTTTCTTTCTATCCCCAACCAAATTCAAACTGCTTTAAGGACGTGGATATATTTTATCTACTTTAATTCTCCATACAATATAGATAGTATAGTGCTGAATACATAATAGGCTCTTATTAAATAATCCCTAAAATTCCCCATGTAAAATGTTCACCTGTAATCTGCAATATTCTCTGTTGTAAAGTTACAGGGTTTTCTGACCTATGGTCACATCATAAGGTTATGGGTTCTCTAGATAATTCACTAACAGACAAGTGTAAATAACTACTGTATAATTTACCTGTCAGTCATTCTTTCAAGTAAAAATGACATTCCATTTTGAGTTGGATTTACAACTCAAAACAAATGCTTTCCCATTAGAAACTACCACACTTAGGTTTGCAACATGAGCTTTATGCATAATTGCCATTTGATTGATCAGACTATTAAAGAGGCATACACTTGGGTTGATTTTAATATAATTTTTTATTGATTCATCAATAACATTCTTAAGTGAAATTGGTCTTTTTGTGTGTTTGTTTAAACTGTGCACATGTGGCTGTGTATAGTACAGTGATTACTAATAAAGTTTGTTGTCATTTGCCTGAGTCTGCTAAGGTACCAAGTTTTATTCACTATTTCTTTTGCAGCATCAGTGCAAAGATAGCCAAAAAAAAGCAATGACATCTTAATGTTATTATAAAAATAGTTTTTACCTAGTGGGTCCCCTGAAAGAGGTCTCAGGAACGCCTAAGGGTTCATGGACTATCCTTTGAGAAGCTTAGAGCTAGAAAACTTTTGAGTGCTAGGCTAACTTTAAAGTCTTTGGTAATTATACTGATTATTCCTAGGTTTTGTGTGAGACTGTAACGGATTGCAAATATTACAATCCTGTTTTGGATTACAAGATATGAAAAAACTTTTGCCTTATAGTTTTGCGGGCAAAAGTTTATAGTGAATGTAAAGGAAGTAATGTGAAAACCTTTATTTCTTCTTTGAATAGATGAGATAGTTATAAATCATATTTATTATAAAGTATTTTGTGTATGTTAATTATTAAATGAGCTTCACTCAGGTATGTGTTTGTACTTCTGTGTGACCATGATTGTGTTTTTGTCACTCCCCTTCTCCTTGTTCATTTGAAG
Seq C2 exon
AACCTCCAACATGTTCTCCTCAGCAGTTTACTTGTTTCACGGGGGAAATTGACTGTATCCCTGTGGCTTGGCGGTGCGATGGGTTTACTGAATGTGAAGACCACAGTGATGAACTCAATTGTCCTGTATGCTCAGAGTCCCAGTTCCAGTGTGCCAGTGGGCAGTGTATTGATGGTGCCCTCCGATGCAATGGAGATGCAAACTGCCAGGACAAATCAGATGAGAAGAACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018:ENST00000261349:17
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=WD(100=86.0),PF0005713=Ldl_recept_a=PU(10.8=9.3)
A:
NA
C2:
PF0005713=Ldl_recept_a=WD(100=48.8),PF0005713=Ldl_recept_a=WD(100=46.2),PF0005713=Ldl_recept_a=PU(0.1=0.0)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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