HsaEX6005297 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121545243-121554109:+
Coord C1 exon
chr11:121545243-121545429
Coord A exon
chr11:121550585-121550670
Coord C2 exon
chr11:121553937-121554109
Length
86 bp
Sequences
Splice sites
3' ss Seq
CTCTTGGGGTGGGGTGACAGCTA
3' ss Score
1.26
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GAGTTCCCTGCACAGAGAATGACTACAAGCTGTGGTCACCATCTGATGAGCGGGGGAATGAGTGTTTGCTGGGACACAAGACTGTTTTCAAACGGCGGACCCCCCATGCCACATGCTTCAATGGAGAGGACTTTGACAGGCCGGTGGTCGTGTCCAACTGCTCCTGCACCCGGGAGGACTATGAGTG
Seq A exon
CTACCGGAAGATTTCTGGGGACACTTGTAGCGGAGGAGATGTTGAAGCGCGACTGGAAGGAGAGCTGGTCCCCTGTCCCCTGGCAG
Seq C2 exon
AAGAGAACGAGTTCATTCTGTATGCTGTGAGGAAATCCATCTACCGCTATGACCTGGCCTCGGGAGCCACCGAGCAGTTGCCTCTCACCGGGCTACGGGCAGCAGTGGCCCTGGACTTTGACTATGAGCACAACTGTTTGTATTGGTCCGACCTGGCCTTGGACGTCATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642_MULTIEX2-3/3=C1-C2
Average complexity
C2
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:
NO
A:
NO
C2:
NO
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:
AGACTGTTTTCAAACGGCGGA
R:
GGCCAGGTCATAGCGGTAGAT
Band lengths:
168-254
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains