HsaEX6005282 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121604193-121605571:+
Coord C1 exon
chr11:121604193-121604324
Coord A exon
chr11:121605113-121605239
Coord C2 exon
chr11:121605402-121605571
Length
127 bp
Sequences
Splice sites
3' ss Seq
TTTCTCCTTTATCTCTCTAGATG
3' ss Score
12
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
Exon sequences
Seq C1 exon
CCACACACAGCACCTTGACTTGCATGAGCAGGGAGTTCCAGTGCGAGGACGGGGAGGCCTGCATTGTGCTCTCGGAGCGCTGCGACGGCTTCCTGGACTGCTCGGACGAGAGCGATGAAAAGGCCTGCAGTG
Seq A exon
ATGAGTTGACTGTGTACAAAGTACAGAATCTTCAGTGGACAGCTGACTTCTCTGGGGATGTGACTTTGACCTGGATGAGGCCCAAAAAAATGCCCTCTGCTTCTTGTGTATATAATGTCTACTACAG
Seq C2 exon
GGTGGTTGGAGAGAGCATATGGAAGACTCTGGAGACCCACAGCAATAAGACAAACACTGTATTAAAAGTCTTGAAACCAGATACCACGTATCAGGTTAAAGTACAGGTTCAGTGTCTCAGCAAGGCACACAACACCAATGACTTTGTGACCCTGAGGACCCCAGAGGGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'88-95,'88-94,89-95=AN
Average complexity
A_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=0.052
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=84.4)
A:
PF0004116=fn3=PU(47.4=86.0)
C2:
PF0004116=fn3=PD(51.3=69.0)
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:
ACACAGCACCTTGACTTGCAT
R:
TGCCTTGCTGAGACACTGAAC
Band lengths:
255-382
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains