HsaEX6015765 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140457463-140485524:-
Coord C1 exon
chr2:140485343-140485524
Coord A exon
chr2:140475138-140475337
Coord C2 exon
chr2:140457463-140457651
Length
200 bp
Sequences
Splice sites
3' ss Seq
GTATTGATTTTCTTTCCTAGATA
3' ss Score
9.39
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GTAGTTCATAACACAGCGGTCCCCAATGCACTTGCTGTCGATTGGATTGGAAAAAACCTCTATTGGTCTGACACAGAAAAAAGAATCATTGAAGTATCCAAACTCAATGGCTTGTACCCTACTATACTCGTTAGCAAAAGGCTGAAGTTTCCCAGAGACTTGTCTTTAGATCCTCAAGCTGG
Seq A exon
ATATTTGTATTGGATTGACTGCTGCGAGTATCCTCATATTGGCCGTGTTGGAATGGATGGAACCAATCAGAGTGTTGTCATAGAAACCAAGATTTCTAGACCTATGGCACTAACAATAGATTATGTTAATCGTAGACTCTACTGGGCCGATGAAAATCACATTGAATTTAGCAACATGGATGGATCTCATAGACACAAAG
Seq C2 exon
TCCCTAATCAAGATATTCCAGGGGTGATTGCACTAACATTGTTTGAAGACTACATCTACTGGACTGATGGGAAAACCAAGTCACTCAGCCGTGCCCATAAAACATCGGGAGCAGACAGACTCTCACTGATTTACTCATGGCATGCCATCACAGATATCCAGGTGTATCATTCTTATAGACAACCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'87-121,'87-120,88-121=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.029 C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=PD(33.3=23.0),PF0005812=Ldl_recept_b=WD(100=67.2),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=61.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCATAACACAGCGGTCCCC
R:
TGCTCCCGATGTTTTATGGGC
Band lengths:
292-492
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains