HsaEX0036417 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140247086-140270346:-
Coord C1 exon
chr2:140270242-140270346
Coord A exon
chr2:140269268-140269381
Coord C2 exon
chr2:140247086-140247162
Length
114 bp
Sequences
Splice sites
3' ss Seq
ATTTTACTGAAATTCTGCAGATG
3' ss Score
6.86
5' ss Seq
CAAGTAGGT
5' ss Score
7.33
Exon sequences
Seq C1 exon
CTGCACTAATGGAAAGATTGCCTCTAGCTGTCAGTTATGTGATGGCTACTGTTACAATGGTGGCACATGCCAGCTGGACCCCGAGACAAATGTACCTGTGTGTCT
Seq A exon
ATGCTCTGTGGGGTTTAAAAGTCAGCGCTGTGACCAGAAAGAGAACCCTTGTGATCACTACTGTCAGAATGAGGGGATTTGCACTTTAACTGCGTTTAATGAGCCGAGATGCAA
Seq C2 exon
ATGCTCCACCAACTGGTCAGGCACACAGTGTGAAAGGCCAGCCCCAAAGAGCAGCAAGTCTGATCATATCAGCACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'125-161,'125-160,126-161
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.051
Domain overlap (PFAM):
C1:
PF151021=TMEM154=PU(13.2=27.8)
A:
PF0000822=EGF=PD(26.5=23.1),PF0000822=EGF=PU(73.7=71.8),PF151021=TMEM154=PU(19.5=41.0)
C2:
PF0000822=EGF=PD(23.7=34.6),PF151021=TMEM154=FE(30.5=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCACTAATGGAAAGATTGCCTCT
R:
TGATCAGACTTGCTGCTCTTTGG
Band lengths:
170-284
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development