HsaEX6015719 @ hg38
Exon Skipping
Gene
ENSG00000168702 | LRP1B
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:141254522-141810401:-
Coord C1 exon
chr2:141810279-141810401
Coord A exon
chr2:141480396-141480533
Coord C2 exon
chr2:141254522-141254641
Length
138 bp
Sequences
Splice sites
3' ss Seq
TCTTTTTTACATCTTTTCAGGTC
3' ss Score
11.75
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
ATCAGCAGTTGTGTGATCCTGGTGAATTTCTTTGCCACGATCACGTGACTTGTGTCTCCCAGAGCTGGCTGTGTGATGGGGACCCTGACTGCCCTGATGATTCAGACGAGTCTTTAGATACCT
Seq A exon
GTCCCGAGGAGGTAGAAATCAAGTGCCCCTTGAATCACATTGCTTGCCTTGGTACCAACAAATGTGTTCATTTATCCCAGCTGTGCAATGGTGTCTTGGACTGCCCAGATGGGTATGACGAAGGAGTACATTGTCAGG
Seq C2 exon
AACTGTTATCCAATTGCCAACAGCTGAATTGTCAGTATAAATGTACAATGGTCAGAAATAGTACAAGATGTTACTGTGAGGATGGATTCGAAATAACAGAAGATGGGAGAAGCTGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'4-27,'4-16,9-27=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=95.2)
A:
PF0005713=Ldl_recept_a=PD(0.1=0.0),PF0005713=Ldl_recept_a=WD(100=83.0)
C2:
PF126622=cEGF=PU(83.3=48.8)


Other Inclusion Isoforms:
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:
TCAGCAGTTGTGTGATCCTGG
R:
CTTTACAGCTTCTCCCATCTTCTGT
Band lengths:
242-380
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains