HsaINT0096555 @ hg38
Intron Retention
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12164273-12165295:-
Coord C1 exon
chr12:12165079-12165295
Coord A exon
chr12:12164563-12165078
Coord C2 exon
chr12:12164273-12164562
Length
516 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
3' ss Seq
TTTTATAATTAATCTTTTAGGTT
3' ss Score
9.73
Exon sequences
Seq C1 exon
GTTATGAATACTGATGGCACTGGGAGACGAGTACTAGTGGAAGACAAAATTCCTCACATATTTGGATTTACTTTGTTGGGTGACTATGTTTACTGGACTGACTGGCAGAGGCGTAGCATTGAAAGAGTTCATAAACGAAGTGCAGAGAGGGAAGTGATCATAGATCAGCTGCCTGACCTCATGGGCCTAAAGGCTACAAATGTTCATCGAGTGATTG
Seq A exon
GTGAGTAACTCCAAAGCTTTCTTAGAAATGGGAACCAGGAATGAAAAAAGATGGAGATAGTCAGCAGTGTAAATTATTGATGTTTTGAGGCAATTTTGAAACCTTCTTTACTGCCCCCCCGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACTGAGAAGGGACCTTTTAAACGTTGACTTACTACTCTAGCTACCCAGTTTGAATTGAAGGGCTGAATACACATGCACAGGCACACCTTCATCAAAAGAATTCAGTCTGATAGTATGAATAATATACCTTACTTTAAAGCTTACTGTGGTATTAAAGGAAAATACTTCACCATGCTTTTACTCCCTATTAATCTGCATATTACTTGTTTGTGATATTAGAATTGAAACTTGAGATTGGGAGCAAGACATAATCATAGGCATTTGTGAACCAAACGCTTAAGTAATTTAAAAGTGAAAATATGTTGAATGTATCAATGTGTGTGTCCTTCTGTGCCCCTTTTATAATTAATCTTTTAG
Seq C2 exon
GTTCCAACCCCTGTGCTGAGGAAAACGGGGGATGTAGCCATCTCTGCCTCTATAGACCTCAGGGCCTTCGCTGTGCTTGCCCTATTGGCTTTGAACTCATCAGTGACATGAAGACCTGCATTGTCCCAGAGGCTTTCCTTTTGTTTTCACGGAGAGCAGATATCAGACGAATTTCTCTGGAAACAAACAATAATAATGTGGCTATTCCACTCACTGGTGTCAAAGAAGCTTCTGCTTTGGATTTTGATGTGACAGACAACCGAATTTATTGGACTGATATATCACTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018:ENST00000261349:8
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:
PF0005812=Ldl_recept_b=PD(61.5=32.9)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=37.1),PF0005812=Ldl_recept_b=PU(24.4=10.3)
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:
TACTGATGGCACTGGGAGACG
R:
AAAGCCTCTGGGACAATGCAG
Band lengths:
345-861
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