HsaEX0061026 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121605113-121606957:+
Coord C1 exon
chr11:121605113-121605239
Coord A exon
chr11:121605402-121605571
Coord C2 exon
chr11:121606845-121606957
Length
170 bp
Sequences
Splice sites
3' ss Seq
TTTATTTTTTTTTGGGCCAGGGT
3' ss Score
6.59
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
ATGAGTTGACTGTGTACAAAGTACAGAATCTTCAGTGGACAGCTGACTTCTCTGGGGATGTGACTTTGACCTGGATGAGGCCCAAAAAAATGCCCTCTGCTTCTTGTGTATATAATGTCTACTACAG
Seq A exon
GGTGGTTGGAGAGAGCATATGGAAGACTCTGGAGACCCACAGCAATAAGACAAACACTGTATTAAAAGTCTTGAAACCAGATACCACGTATCAGGTTAAAGTACAGGTTCAGTGTCTCAGCAAGGCACACAACACCAATGACTTTGTGACCCTGAGGACCCCAGAGGGAT
Seq C2 exon
TGCCAGATGCCCCTCGAAATCTCCAGCTGTCACTCCCCAGGGAAGCAGAAGGTGTGATTGTAGGCCACTGGGCTCCTCCCATCCACACCCATGGCCTCATCCGTGAGTACATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642_CASSETTE7
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=0.052 C2=0.102
Domain overlap (PFAM):
C1:
PF0004116=fn3=PU(47.4=86.0)
A:
PF0004116=fn3=PD(51.3=69.0)
C2:
PF0004116=fn3=PU(41.7=92.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGTTGACTGTGTACAAAGTACA
R:
GATGAGGCCATGGGTGTGGAT
Band lengths:
227-397
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