HsaEX6005290 @ hg19
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin-related receptor, L(DLR class) A repeats containing [Source:HGNC Symbol;Acc:11185]
Coordinates
chr11:121447990-121457038:+
Coord C1 exon
chr11:121447990-121448109
Coord A exon
chr11:121454167-121454292
Coord C2 exon
chr11:121456931-121457038
Length
126 bp
Sequences
Splice sites
3' ss Seq
GTCTCTCTTCTCTGTTACAGCCA
3' ss Score
10.48
5' ss Seq
GTGGTAAAT
5' ss Score
5.18
Exon sequences
Seq C1 exon
AAATGCACCAGTGCCGGAGTGACGAGTACAACTGCAGTTCCGGCATGTGCATCCGCTCCTCCTGGGTATGTGACGGGGACAACGACTGCAGGGACTGGTCTGATGAAGCCAACTGTACCG
Seq A exon
CCATCTATCACACCTGTGAGGCCTCCAACTTCCAGTGCCGAAACGGGCACTGCATCCCCCAGCGGTGGGCGTGTGACGGGGATACGGACTGCCAGGATGGTTCCGATGAGGATCCAGTCAACTGTG
Seq C2 exon
AGAAGAAGTGCAATGGATTCCGCTGCCCAAACGGCACTTGCATCCCATCCAGCAAACATTGTGATGGTCTGCGTGATTGCTCTGATGGCTCCGATGAACAGCACTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'29-32,'29-31,30-32=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=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=90.2)
A:
PF0005713=Ldl_recept_a=PU(90.7=90.7),PF0005713=Ldl_recept_a=PU(7.7=7.0)
C2:
PF0005713=Ldl_recept_a=PD(7.0=8.1),PF0005713=Ldl_recept_a=PD(89.7=94.6)
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:
CAGTGCCGGAGTGACGAGTA
R:
CAGTGCTGTTCATCGGAGCC
Band lengths:
218-344
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)