HsaEX0061024 @ hg19
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin-related receptor, L(DLR class) A repeats containing [Source:HGNC Symbol;Acc:11185]
Coordinates
chr11:121425896-121429546:+
Coord C1 exon
chr11:121425896-121426027
Coord A exon
chr11:121428023-121428114
Coord C2 exon
chr11:121429300-121429546
Length
92 bp
Sequences
Splice sites
3' ss Seq
TTTCCCCCTGTTTTTGTCAGGTA
3' ss Score
10.18
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
CGCCTCTGTTTGAATGGAAGCACAGGGCAAGAGGTGATCATCAATTCTGGCCTGGAGACAGTAGAAGCTTTGGCTTTTGAACCCCTCAGCCAGCTGCTTTACTGGGTAGATGCAGGCTTCAAAAAGATTGAG
Seq A exon
GTAGCTAATCCAGATGGCGACTTCCGACTCACAATCGTCAATTCCTCTGTGCTTGATCGTCCCAGGGCTCTGGTCCTCGTGCCCCAAGAGGG
Seq C2 exon
GGTGATGTTCTGGACAGACTGGGGAGACCTGAAGCCTGGGATTTATCGGAGCAATATGGATGGTTCTGCTGCCTATCACCTGGTGTCTGAGGATGTGAAGTGGCCCAATGGCATCTCTGTGGACGACCAGTGGATTTACTGGACGGATGCCTACCTGGAGTGCATAGAGCGGATCACGTTCAGTGGCCAGCAGCGCTCTGTCATTCTGGACAACCTCCCGCACCCCTATGCCATTGCTGTCTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642_CASSETTE3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005812=Ldl_recept_b=PU(31.7=29.5)
A:
PF0005812=Ldl_recept_b=PD(63.4=83.9),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=50.6),PF0005812=Ldl_recept_b=WD(100=48.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
GCCAGCTGCTTTACTGGGTAG
R:
GTCCACAGAGATGCCATTGGG
Band lengths:
168-260
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)