HsaEX6005285 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121590040-121595772:+
Coord C1 exon
chr11:121590040-121590174
Coord A exon
chr11:121591001-121591156
Coord C2 exon
chr11:121595623-121595772
Length
156 bp
Sequences
Splice sites
3' ss Seq
GTGCTTGGTGTTTTTCTCAGATT
3' ss Score
8.89
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
AAAACCCCACAGAAGCCCCAAACTGCTCCCGCTACTTCCAGTTTCGGTGTGAGAATGGCCACTGCATCCCCAACAGATGGAAATGTGACAGGGAGAACGACTGTGGGGACTGGTCTGATGAGAAGGATTGTGGAG
Seq A exon
ATTCACATATTCTTCCCTTCTCGACTCCTGGGCCCTCCACGTGTCTGCCCAATTACTACCGCTGCAGCAGTGGGACCTGCGTGATGGACACCTGGGTGTGCGACGGGTACCGAGATTGTGCAGATGGCTCTGACGAGGAAGCCTGCCCCTTGCTTG
Seq C2 exon
CAAACGTCACTGCTGCCTCCACTCCCACCCAACTTGGGCGATGTGACCGATTTGAGTTCGAATGCCACCAACCGAAGACGTGTATTCCCAACTGGAAGCGCTGTGACGGCCACCAAGATTGCCAGGATGGCCGGGACGAGGCCAATTGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'83-91,'83-87,85-91=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.005 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=82.6)
A:
PF0005713=Ldl_recept_a=WD(100=69.8)
C2:
PF0005713=Ldl_recept_a=WD(100=74.5)
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:
CAAACTGCTCCCGCTACTTCC
R:
CCATCCTGGCAATCTTGGTGG
Band lengths:
247-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains