HsaEX1022152 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140902920-140908077:-
Coord C1 exon
chr2:140907877-140908077
Coord A exon
chr2:140903547-140903807
Coord C2 exon
chr2:140902920-140903165
Length
261 bp
Sequences
Splice sites
3' ss Seq
ACTTTTTTTTTTTTTTTTAGTGT
3' ss Score
11.14
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
GGAGATGCATCAACAAAGCATGGGTGTGTGATGGAGATATTGATTGCGAAGATCAGTCAGATGAAGATGACTGTGACAGTTTCTTGTGTGGACCACCCAAGCATCCTTGTGCTAATGACACCTCAGTCTGCCTGCAGCCAGAGAAACTCTGCAATGGGAAAAAGGATTGTCCTGATGGCTCTGATGAAGGCTATCTCTGTG
Seq A exon
TGTTTTGCTTATGATGTTTCCATGGCGTCATTGAATGAATCATAATAACCAATATATGAGGCACAATGTATAATTCACCTAACTTAAAAATAAATGCCTACAGCTGGTAAAGGATAAAGTAATCCATTCTGCATTTTAACTCCAAAATGGACTGTACAAGTGTTGCAAAAGATATATAGACACATATATTCACATATGTGTATATGGATATACTTGTTAATTTATTAACATCAAGATATGTCTAATATTAAGATCATCATG
Seq C2 exon
ATGAGTGTTCGCTGAACAATGGAGGCTGTAGCAACCACTGTTCTGTTGTTCCTGGAAGAGGAATTGTCTGTTCCTGCCCTGAAGGACTTCAACTCAACAAAGACAATAAAACATGTGAAATTGTGGATTATTGTAGCAATCATCTAAAGTGCAGCCAAGTATGTGAGCAGCACAAGCACACAGTCAAGTGCTCATGTTATGAAGGTTGGAAGCTGGATGTAGACGGTGAAAGTTGTACAAGTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'37-63,'37-62,38-63
Average complexity
C2
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(61.5=35.3),PF0005713=Ldl_recept_a=PU(92.9=57.4)
A:
PF0005713=Ldl_recept_a=PD(4.8=40.0)
C2:
PF0005713=Ldl_recept_a=PD(4.8=2.4),PF146701=FXa_inhibition=WD(100=44.6),PF146701=FXa_inhibition=WD(100=42.2)
Main Inclusion Isoform:
ENST00000389484fB19031
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTCTTGTGTGGACCACCCA
R:
GTGCTGCTCACATACTTGGCT
Band lengths:
296-557
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains