HsaEX1022153 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140769213-140903165:-
Coord C1 exon
chr2:140902920-140903165
Coord A exon
chr2:140898859-140899207
Coord C2 exon
chr2:140769213-140769344
Length
349 bp
Sequences
Splice sites
3' ss Seq
GTATCATCTTCTCATTGCAGATA
3' ss Score
10.04
5' ss Seq
CAGGTATAC
5' ss Score
7.48
Exon sequences
Seq C1 exon
ATGAGTGTTCGCTGAACAATGGAGGCTGTAGCAACCACTGTTCTGTTGTTCCTGGAAGAGGAATTGTCTGTTCCTGCCCTGAAGGACTTCAACTCAACAAAGACAATAAAACATGTGAAATTGTGGATTATTGTAGCAATCATCTAAAGTGCAGCCAAGTATGTGAGCAGCACAAGCACACAGTCAAGTGCTCATGTTATGAAGGTTGGAAGCTGGATGTAGACGGTGAAAGTTGTACAAGTGTTG
Seq A exon
ATACCCTTGACAACAACAGGAGCCTTTGAATCAGCAGCACTCCAACAGGTCCCAAGTCAGTATGCTGCAAGGTTCCCATAGACCTGGAGAACTTCATGCAACTTCTTGGTGGCCATGAACCTCTCCATGTACTTATTGAAGTTTATTTTAAAAAGATTACCTTCCATATCAAGTGGACAGATCTGGCAATCACTGCAGATGCTCTGTGAAAGCATGCTGAGCTCAAGACAGTTCTCTTCCAGGTGAAGAATTTTAAGGCAAGGACAGCCAGATATCTTTATTGAGACCTGAGATATCTTCTTCCAGTTGAGGATGAGTTTGATGACCTGCAGCTCTCCTACTATGTCAG
Seq C2 exon
GTATAGAATCATTTCTTATGTACTCTGTTCATGAAGGAATCAGGGGAATACCTCTTGAACCAAGTGACAAAATGGATGCTTTGATGCCTATATCAGGAACTTCATTTGCCGTGGGAATAGATTTCCATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702_MULTIEX3-1/13=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=PD(4.8=2.4),PF146701=FXa_inhibition=WD(100=44.6),PF146701=FXa_inhibition=WD(100=42.2)
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000389484fB19032
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCGCTGAACAATGGAGGCTG
R:
TCCCACGGCAAATGAAGTTCC
Band lengths:
355-704
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains