HsaINT0096542 @ hg38
Intron Retention
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12135175-12138534:-
Coord C1 exon
chr12:12138325-12138534
Coord A exon
chr12:12135301-12138324
Coord C2 exon
chr12:12135175-12135300
Length
3024 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
CTCACCTCTTCTCTTTGCAGGAC
3' ss Score
13.03
Exon sequences
Seq C1 exon
GTGCTAACCGGATAGTATTAGAAGACTCCAATATCTTGCAGCCTGTGGGACTTACTGTGTTTGAAAACTGGCTCTATTGGATTGATAAACAGCAGCAAATGATTGAAAAAATTGACATGACAGGTCGAGAGGGTAGAACCAAAGTCCAAGCTCGAATTGCCCAGCTTAGTGACATTCATGCAGTAAAGGAGCTGAACCTTCAAGAATACA
Seq A exon
GTAAGTGTTAATGGGATAAAGCTAATTGGAGGAATCATGTGTTATAATAAATTAATATGTACTTTTGTGGATTTTTAAACTCTGTTTCCTTGAAGACTTTCATGCACTTTTAGTTTTGCCATTTTTTTGAACTCTCCATGCTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGTCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTCGCTAATTTTTTTTTTTTTTAATTTTTAGTAGAAGCAGGGTTTCACCATGTTGTCCAGGCTGATCTCGAACTTCTGACTTGAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCACACCCAGCCTCTTCATGCTTTTAAAGCCTTATGTCAACCTTACCCGGGAGCTTTTCCAAATTAAACATAATCTCATAAACCAGAAATGGGGGAAAGGCATGGGTCTTGCCTGTTAAAAAAGAATATTTCCTGGTACAACAATGACTGCTTATCATGCCTTGTTTTTCTCTCCTTCAGTTCCTTTGGGAATACTGATAACATAAAGCATCTATTTCTTTTCTTCCCTCTCTATACTTCCCCCCATAGCTTGAAAAAAAGTAAAAATTATATAATGATGAATATAGTTATAATGGGTTAATCTTATTCTTAGGCAAAACAAACTAAAAATTAGTGTGTAAACATAGAGAAGACTCTGTTTAATTAGTAGGTGCTTGGTTTTTTTCCCCCCCTTTGGGATAAATATTTCAATTCCCAGCTTAGAAAAATAGCCATCTCCATGAGCCCCAGGAAAAAAGAAAAGTAGCCAGAAATATTTTCTTATTTTTTTTTGAAAATGGCTAGTCATCTTGGCCTAGTTCTTAATTCATATCTGTCATCAAAATTACCCTAATCATAGAGAGGAATAAATGAGTTTATATATGCAAAACGTTTTTTAAAAAGTGCCTTCCTAGCAGTCACTACTGTTGATCATACATGATGGTACCGGGGATGCCAATGTTAAATTGAGTATGAGAGAGACAATTATTGAAATTCTGTAACTTCTCAGCTCAGTGCTTTTAAATTGAATTTAAGCATGAAAGGAGAATGAAGAAACAGGAGTAGCCCTGTACAAGTGTTCATTATGTTGGTACAGTTCATGAATTTAGAAGTAAAGTTACAAGTAATTGAGAATTAGAAAGTTAAAAATTGTTGTCATTTTATGGTATGACTTGTAGCTCAGGCTGAACATTTAATAGAAATATGATAATGATATCATACCTAAGTTATTTATTTAGTCGATACATGAATATTTTATTACAGAAAATCTCAAGATTTTCAGAATTTCAAGGGAGAGGTTTTATTTAATAACTATTTAAATATGATTGTATATTAGGTAAATCATTTTTTCAAATTTCTAATATTAAAGAGAATGGGATTTTTATCAAAAATGTCATGGAATTAAAGGTTGAGAAACACTGCTACATAGACTGTATATTCTATATAATGTGTGATGTCTGTTTTGGACAGTATGCTCATTTGTAGATAGCTGACTCCCTCAGTCTCAACACAAACTGAAGCAGAACCAATGTTATTGTGGAAGAGAGTCAAATAATAAATGGTGGCTTATATTAGATGTTCATATTTTGTGACGACAGATGTCAAGTTGCTTTTAATACAGGCTAAACAGAAAATTCCAAACAATGATTCTTTAAAAATACAACTTGTGAAACAGACTTTGAAAAGTTGCCTAGTGGTTTCTTTACTTAGCCCATGTATGAGGAAGTTAGACATTTATAGTATTACAAGTTACCTTTTGCAGTTGACCAAATAATTTTGTTTCTGAATTGTTCTGTTACATGTGCCTTTTAAGTTTTTTTCTTCTAATAACTCTTTAATTCTCAATGGATTCCTCATTAAGATACACTTTTTGACTGAAGTTGTCTTTCAGATATACGGATTTTCTGAGTTAAAAATCTTAATATAGGAGAATTCTTATATTTTAAATAGAATAATACTCAAGTTTCAGCATTCTCCCTAGCAATTTTTTGTTGTTGTTTTTTGTAGAGATGGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCGCCTCCCAGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTAATTTCTTTTGTATTTTAGTAGAGACGGGATTTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGTTCAGGCAATCCACCTGCCGCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTCCCTAGCAATTTTTTAGTTTCAGTAAACATTTCTTCATATTCACAAAAATTAAGATGAGCTTTACCATTATCTTAAAATATTTTATATATAAATATATAAGGACAGTGGTTAGATAGAAGTAGTTTCTTGTAGGTTGTGTAGAGATTGAGTGAAGAATCATATTGTGTGGAAATAAAAGTCCAAGCTGGACCAACCTGACCACCATGGTAAAATTCCATCTTTACTAAAAACGGAAAAATTGGCCAGGCATGGCGGCAGTCACCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAGCACTTGAACCTGGGAAGCAGAGTTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGCCTGAGCTACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATGATAAAAGTAAAAAAAGTCCATAATAATAATAATAAAAGTAAAAAAAAAGAGTCCAAGCTGATTATACATTTGATTTTCATAAATAGTTTTGACAGGGTTGTCCCTTTTTCTCTTCTCTCCCACTTCTCTCCCCCTCCACTCCCCCTCCTCTCCCCATCCTCACCTCTTCTCTTTGCAG
Seq C2 exon
GACAGCACCCTTGTGCTCAGGATAATGGTGGCTGTTCACATATTTGTCTTGTAAAGGGGGATGGTACTACAAGGTGTTCTTGCCCCATGCACCTGGTTCTACTTCAAGATGAGCTATCATGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018:ENST00000261349:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.050 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=PD(51.2=29.6)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=86.0),PF0005713=Ldl_recept_a=PU(10.8=9.3)
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:
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