HsaEX6067356 @ hg38
Exon Skipping
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57144972-57154370:+
Coord C1 exon
chr12:57144972-57145100
Coord A exon
chr12:57145227-57145490
Coord C2 exon
chr12:57154208-57154370
Length
264 bp
Sequences
Splice sites
3' ss Seq
CTTCTCTTCCCCATTCCCAGAGC
3' ss Score
8.98
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
Exon sequences
Seq C1 exon
ATTTTGATGAGTGCTCAGTGTACGGCACCTGCAGCCAGCTATGCACCAACACAGACGGCTCCTTCATATGTGGCTGTGTTGAAGGATACCTCCTGCAGCCGGATAACCGCTCCTGCAAGGCCAAGAACG
Seq A exon
AGCCAGTAGACCGGCCCCCTGTGCTGTTGATAGCCAACTCCCAGAACATCTTGGCCACGTACCTGAGTGGGGCCCAGGTGTCTACCATCACACCTACGAGCACGCGGCAGACCACAGCCATGGACTTCAGCTATGCCAACGAGACCGTATGCTGGGTGCATGTTGGGGACAGTGCTGCTCAGACGCAGCTCAAGTGTGCCCGCATGCCTGGCCTAAAGGGCTTCGTGGATGAGCACACCATCAACATCTCCCTCAGTCTGCACC
Seq C2 exon
ACGTGGAACAGATGGCCATCGACTGGCTGACAGGCAACTTCTACTTTGTGGATGACATCGATGATAGGATCTTTGTCTGCAACAGAAATGGGGACACATGTGTCACATTGCTAGACCTGGAACTCTACAACCCCAAGGGCATTGCCCTGGACCCTGCCATGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'16-17,'16-9,17-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.009 C2=0.000
Domain overlap (PFAM):
C1:
PF146701=FXa_inhibition=WD(100=79.5)
A:
NO
C2:
PF0005812=Ldl_recept_b=WD(100=74.5),PF0005812=Ldl_recept_b=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTTTGATGAGTGCTCAGTGTACG
R:
CCCATGGCAGGGTCCAGG
Band lengths:
292-556
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains