HsaEX6005286 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121589259-121591156:+
Coord C1 exon
chr11:121589259-121589390
Coord A exon
chr11:121590040-121590174
Coord C2 exon
chr11:121591001-121591156
Length
135 bp
Sequences
Splice sites
3' ss Seq
GATGTGGTTGATCTCTGCAGAAA
3' ss Score
6.53
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
CCCAAGATCCTGAGTTCCACAAGGTATGTGATGAGTTCGGTTTCCAGTGTCAGAATGGAGTGTGCATCAGTTTGATTTGGAAGTGCGACGGGATGGATGATTGCGGCGATTATTCTGATGAAGCCAACTGCG
Seq A exon
AAAACCCCACAGAAGCCCCAAACTGCTCCCGCTACTTCCAGTTTCGGTGTGAGAATGGCCACTGCATCCCCAACAGATGGAAATGTGACAGGGAGAACGACTGTGGGGACTGGTCTGATGAGAAGGATTGTGGAG
Seq C2 exon
ATTCACATATTCTTCCCTTCTCGACTCCTGGGCCCTCCACGTGTCTGCCCAATTACTACCGCTGCAGCAGTGGGACCTGCGTGATGGACACCTGGGTGTGCGACGGGTACCGAGATTGTGCAGATGGCTCTGACGAGGAAGCCTGCCCCTTGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'82-87,'82-85,83-87=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=0.000 C2=0.005
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=82.2)
A:
PF0005713=Ldl_recept_a=WD(100=82.6)
C2:
PF0005713=Ldl_recept_a=WD(100=69.8)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGTTCGGTTTCCAGTGTCA
R:
GCTTCCTCGTCAGAGCCATCT
Band lengths:
243-378
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains