HsaEX6067355 @ hg38
Exon Skipping
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57145227-57154701:+
Coord C1 exon
chr12:57145227-57145490
Coord A exon
chr12:57154208-57154370
Coord C2 exon
chr12:57154479-57154701
Length
163 bp
Sequences
Splice sites
3' ss Seq
CTTTCATTCGTACTCTCCAGACG
3' ss Score
8.48
5' ss Seq
GGGGTGAGA
5' ss Score
4.74
Exon sequences
Seq C1 exon
AGCCAGTAGACCGGCCCCCTGTGCTGTTGATAGCCAACTCCCAGAACATCTTGGCCACGTACCTGAGTGGGGCCCAGGTGTCTACCATCACACCTACGAGCACGCGGCAGACCACAGCCATGGACTTCAGCTATGCCAACGAGACCGTATGCTGGGTGCATGTTGGGGACAGTGCTGCTCAGACGCAGCTCAAGTGTGCCCGCATGCCTGGCCTAAAGGGCTTCGTGGATGAGCACACCATCAACATCTCCCTCAGTCTGCACC
Seq A exon
ACGTGGAACAGATGGCCATCGACTGGCTGACAGGCAACTTCTACTTTGTGGATGACATCGATGATAGGATCTTTGTCTGCAACAGAAATGGGGACACATGTGTCACATTGCTAGACCTGGAACTCTACAACCCCAAGGGCATTGCCCTGGACCCTGCCATGGG
Seq C2 exon
GAAGGTGTTTTTCACTGACTATGGGCAGATCCCAAAGGTGGAACGCTGTGACATGGATGGGCAGAACCGCACCAAGCTCGTCGACAGCAAGATTGTGTTTCCTCATGGCATCACGCTGGACCTGGTCAGCCGCCTTGTCTACTGGGCAGATGCCTATCTGGACTATATTGAAGTGGTGGACTATGAGGGCAAGGGCCGCCAGACCATCATCCAGGGCATCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'17-18,'17-17,21-18
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=0.000 C2=0.004
Domain overlap (PFAM):
C1:
NO
A:
PF0005812=Ldl_recept_b=WD(100=74.5),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=56.0),PF0005812=Ldl_recept_b=PU(71.4=40.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCACAGCCATGGACTTCAG
R:
ATCTTGCTGTCGACGAGCTTG
Band lengths:
248-411
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains