HsaEX0061025 @ hg19
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin-related receptor, L(DLR class) A repeats containing [Source:HGNC Symbol;Acc:11185]
Coordinates
chr11:121437649-121445072:+
Coord C1 exon
chr11:121437649-121437822
Coord A exon
chr11:121440866-121440979
Coord C2 exon
chr11:121444950-121445072
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_CASSETTE4
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)