HsaEX6005289 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121583458-121588151:+
Coord C1 exon
chr11:121583458-121583583
Coord A exon
chr11:121586222-121586329
Coord C2 exon
chr11:121588020-121588151
Length
108 bp
Sequences
Splice sites
3' ss Seq
GTTGTTGAATTCTATTTCAGAGA
3' ss Score
6.77
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
CCATCTATCACACCTGTGAGGCCTCCAACTTCCAGTGCCGAAACGGGCACTGCATCCCCCAGCGGTGGGCGTGTGACGGGGATACGGACTGCCAGGATGGTTCCGATGAGGATCCAGTCAACTGTG
Seq A exon
AGAAGAAGTGCAATGGATTCCGCTGCCCAAACGGCACTTGCATCCCATCCAGCAAACATTGTGATGGTCTGCGTGATTGCTCTGATGGCTCCGATGAACAGCACTGCG
Seq C2 exon
AGCCCCTCTGTACGCACTTCATGGACTTTGTGTGTAAGAACCGCCAGCAGTGCCTGTTCCACTCCATGGTCTGTGACGGAATCATCCAGTGCCGCGACGGGTCCGATGAGGATGCGGCGTTTGCAGGATGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'75-79,'75-77,77-79
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=PU(90.7=90.7),PF0005713=Ldl_recept_a=PU(7.7=7.0)
A:
PF0005713=Ldl_recept_a=PD(7.0=8.1),PF0005713=Ldl_recept_a=PD(89.7=94.6)
C2:
PF0005713=Ldl_recept_a=WD(100=93.3)
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:
CTGTGAGGCCTCCAACTTCCA
R:
ATCCTGCAAACGCCGCATC
Band lengths:
242-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains