HsaEX6005293 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121558591-121567113:+
Coord C1 exon
chr11:121558591-121558837
Coord A exon
chr11:121559519-121559657
Coord C2 exon
chr11:121566940-121567113
Length
139 bp
Sequences
Splice sites
3' ss Seq
GGCAAAGGTTTTCTTTTTAGAAT
3' ss Score
5.49
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
GGTGATGTTCTGGACAGACTGGGGAGACCTGAAGCCTGGGATTTATCGGAGCAATATGGATGGTTCTGCTGCCTATCACCTGGTGTCTGAGGATGTGAAGTGGCCCAATGGCATCTCTGTGGACGACCAGTGGATTTACTGGACGGATGCCTACCTGGAGTGCATAGAGCGGATCACGTTCAGTGGCCAGCAGCGCTCTGTCATTCTGGACAACCTCCCGCACCCCTATGCCATTGCTGTCTTTAAG
Seq A exon
AATGAAATCTACTGGGATGACTGGTCACAGCTCAGCATATTCCGAGCTTCCAAATACAGTGGGTCCCAGATGGAGATTCTGGCAAACCAGCTCACGGGGCTCATGGACATGAAGATTTTCTACAAGGGGAAGAACACTG
Seq C2 exon
GAAGCAATGCCTGTGTGCCCAGGCCATGCAGCCTGCTGTGCCTGCCCAAGGCCAACAACAGTAGAAGCTGCAGGTGTCCAGAGGATGTGTCCAGCAGTGTGCTTCCATCAGGGGACCTGATGTGTGACTGCCCTCAGGGCTATCAGCTCAAGAACAATACCTGTGTCAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'59-64,'59-58,60-64
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=WD(100=50.6),PF0005812=Ldl_recept_b=WD(100=48.2)
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:
CCCAATGGCATCTCTGTGGAC
R:
CACACTGCTGGACACATCCTC
Band lengths:
245-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains