HsaINT0096547 @ hg38
Intron Retention
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12125296-12126921:-
Coord C1 exon
chr12:12126691-12126921
Coord A exon
chr12:12125433-12126690
Coord C2 exon
chr12:12125296-12125432
Length
1258 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TTAACCTCCTTTTATTTTAGGAA
3' ss Score
11.66
Exon sequences
Seq C1 exon
ATCCGACTGAAGAACCAGCACCACAGGCCACCAATACAGTTGGTTCTGTTATTGGCGTAATTGTCACCATTTTTGTGTCTGGAACTGTATACTTTATCTGCCAGAGGATGTTGTGTCCACGTATGAAGGGAGATGGGGAAACTATGACTAATGACTATGTAGTTCATGGACCAGCTTCTGTGCCTCTTGGTTATGTGCCACACCCAAGTTCTTTGTCAGGATCTCTTCCAG
Seq A exon
GTGAGTCAGGATGGATCCATTGAGAATCAAGTCTTTGGTCCTGCAAGACTGCCAGTTTCCATTGTGGAAAAGAATACTACCTAGAGTCTGTCTGAAACCATATTACTCTGAGTTTAAACAATTATAAGGACAAACGTTCTTTTTTACTATTAGCACCTTCTCTTTACACAGAAGGCCTTAGATATGGTTTGGTAGAAATTGTCAAAGCATATAAAGCAAATACATATGCAAGCTCTAAGCCTCTCTGACTGCAATTCTGGATGCATGCTACGGAAGGTGAATCAGCCAGTCATTTAGTGAAAGAGTTGTAAACCACAGGTTAAGTTCACCACCAGGGAACTCTAGTACTATGGAGCCCATGAATAAAAGGAGGCCAAAAATTATATAAGATTCCCTTCAGCCAACAAAGATTTGTAAATAGCTGGATGATAGAAGGGAGAATATGTCTTAAGTTTTCTCCTGACTTCATGTGCTAATAAGGGACAAAGGGCTAGTTTAGGCATAGCTGAGTAGCCAGAAGTTTTAAGCTTGGGTAGGCCGTGTTGCTCTAGGGAACTGGCCTTCTTTTTAATGTTTTCTGGTGCCCTTAGTTAAAAGACGCCTTCCTTTTAATGAATATGGAGAAGGCGGTGCCTTGCAAAAACCCTCTGAAAATAGGAACTTACTATGGGTGTAACTCTTAAGTAGACAAACATGGTTTTTAAACTGTTAATGGTAGTGTTGCTTTGTTGCCATACCTATTTTCAGTTAGTGGAATTTGGGAAGCTTCTTGGAAAAAATAGAATTTTTTCTTTAGCACTGGTAGTTTTGATTCTAGCAACATTTATATTCATTAGATGAAAAAATATTCTTTCATATGTTGTTTGTGCCCTAAAAATGTTTTTTTGTTTTCTTTTGAGCAAGTCTGGTATTTAATATGCCCTGCCTCACAACCTCTACCCTTTACAATCCTTTCAAATCCTCCAAGAGGTTGAAAAGCCCTTATTTTAAATAGCTCTGCTTCTACCAGGGGAGGGAGAAGGTGGGAGCTATTCTTGGCCTTGTTCTAGGCCAGCTCTTTCAATGGAAGCATTGACTTCTAGAAAACGTTCATTTCCTTTCTCCATTAAATGTTTTCAATTATAGGAAAAGAGTGTAAGTTATTTTAAAATCAGACTACTTCACTGTTGATATTTGTAATCCTACTGTTGAATGAAATTGCTTGATACATTTTTATATATCATACTCATCTTCAGTTTTTAACCTCCTTTTATTTTAG
Seq C2 exon
GAATGTCTCGAGGTAAATCAATGATCAGCTCCCTCAGTATCATGGGGGGAAGCAGTGGACCCCCCTATGACCGAGCCCATGTTACAGGAGCATCATCAAGTAGTTCTTCAAGCACCAAAGGCACTTACTTCCCTGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018:ENST00000261349:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.171 A=NA C2=0.457
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
CTGAAGAACCAGCACCACAGG
R:
AGTGCCTTTGGTGCTTGAAGA
Band lengths:
350-1608
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