HsaEX6015736 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140769213-140868263:-
Coord C1 exon
chr2:140868099-140868263
Coord A exon
chr2:140867590-140867834
Coord C2 exon
chr2:140769213-140769344
Length
245 bp
Sequences
Splice sites
3' ss Seq
ATGTATTTATCTTTCTGTAGGTC
3' ss Score
10.04
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
AATTCTTTTCTGGACAGACTGGGATGCAAATTTTCCTCGCATTGAATCTGCCTCTATGAGTGGTGCTGGGAGAAAAACCATCTATAAAGACATGAAAACTGGGGCTTGGCCTAATGGACTAACTGTGGACCACTTTGAGAAAAGGATAGTGTGGACAGACGCCAG
Seq A exon
GTCAGATGCTATTTATTCAGCCCTCTATGATGGAACAAACATGATAGAAATCATCCGAGGTCATGAATACCTTTCCCATCCCTTTGCTGTGTCTCTATATGGGAGTGAAGTCTACTGGACAGACTGGAGGACCAACACATTGTCCAAAGCCAATAAGTGGACAGGGCAGAATGTCAGTGTGATTCAGAAAACCAGTGCACAGCCATTTGACCTTCAGATATACCATCCCAGTCGCCAGCCACAGG
Seq C2 exon
GTATAGAATCATTTCTTATGTACTCTGTTCATGAAGGAATCAGGGGAATACCTCTTGAACCAAGTGACAAAATGGATGCTTTGATGCCTATATCAGGAACTTCATTTGCCGTGGGAATAGATTTCCATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702_MULTIEX3-5/13=4-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.024 C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=WD(100=80.4)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCTGGACAGACTGGGATGC
R:
GAAATCTATTCCCACGGCAAATGA
Band lengths:
284-529
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains