HsaEX0061025 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121566940-121574363:+
Coord C1 exon
chr11:121566940-121567113
Coord A exon
chr11:121570157-121570270
Coord C2 exon
chr11:121574241-121574363
Length
114 bp
Sequences
Splice sites
3' ss Seq
TGCCGCACTCTGATGGGTAGAGA
3' ss Score
0.89
5' ss Seq
GCCGTGAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GAAGCAATGCCTGTGTGCCCAGGCCATGCAGCCTGCTGTGCCTGCCCAAGGCCAACAACAGTAGAAGCTGCAGGTGTCCAGAGGATGTGTCCAGCAGTGTGCTTCCATCAGGGGACCTGATGTGTGACTGCCCTCAGGGCTATCAGCTCAAGAACAATACCTGTGTCAAACAAG
Seq A exon
AGAACACCTGTCTTCGCAACCAGTATCGCTGCAGCAACGGGAACTGTATCAACAGCATTTGGTGGTGTGACTTTGACAACGACTGTGGAGACATGAGCGATGAGAGAAACTGCC
Seq C2 exon
CTACCACCATCTGTGACCTGGACACCCAGTTTCGTTGCCAGGAGTCTGGGACTTGTATCCCACTGTCCTATAAATGTGACCTTGAGGATGACTGTGGAGACAACAGTGATGAAAGTCATTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642_CASSETTE5
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0005713=Ldl_recept_a=WD(100=94.9)
C2:
PF0005713=Ldl_recept_a=WD(100=92.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCAAGGCCAACAACAGTAG
R:
CATCACTGTTGTCTCCACAGTCA
Band lengths:
242-356
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