HsaEX6005284 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121591001-121604324:+
Coord C1 exon
chr11:121591001-121591156
Coord A exon
chr11:121595623-121595772
Coord C2 exon
chr11:121604193-121604324
Length
150 bp
Sequences
Splice sites
3' ss Seq
TTAAAAATCTTTTATTTTAGCAA
3' ss Score
6.85
5' ss Seq
GCCGTGAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
ATTCACATATTCTTCCCTTCTCGACTCCTGGGCCCTCCACGTGTCTGCCCAATTACTACCGCTGCAGCAGTGGGACCTGCGTGATGGACACCTGGGTGTGCGACGGGTACCGAGATTGTGCAGATGGCTCTGACGAGGAAGCCTGCCCCTTGCTTG
Seq A exon
CAAACGTCACTGCTGCCTCCACTCCCACCCAACTTGGGCGATGTGACCGATTTGAGTTCGAATGCCACCAACCGAAGACGTGTATTCCCAACTGGAAGCGCTGTGACGGCCACCAAGATTGCCAGGATGGCCGGGACGAGGCCAATTGCC
Seq C2 exon
CCACACACAGCACCTTGACTTGCATGAGCAGGGAGTTCCAGTGCGAGGACGGGGAGGCCTGCATTGTGCTCTCGGAGCGCTGCGACGGCTTCCTGGACTGCTCGGACGAGAGCGATGAAAAGGCCTGCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'85-92,'85-91,86-92
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=69.8)
A:
PF0005713=Ldl_recept_a=WD(100=74.5)
C2:
PF0005713=Ldl_recept_a=WD(100=84.4)
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:
CCACGTGTCTGCCCAATTACT
R:
CCTTTTCATCGCTCTCGTCCG
Band lengths:
243-393
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains