HsaEX6005295 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121553937-121557405:+
Coord C1 exon
chr11:121553937-121554109
Coord A exon
chr11:121555187-121555318
Coord C2 exon
chr11:121557314-121557405
Length
132 bp
Sequences
Splice sites
3' ss Seq
TATTACTTTTCTCTCTTAAGCGC
3' ss Score
7.89
5' ss Seq
GAGGTATGT
5' ss Score
9.81
Exon sequences
Seq C1 exon
AAGAGAACGAGTTCATTCTGTATGCTGTGAGGAAATCCATCTACCGCTATGACCTGGCCTCGGGAGCCACCGAGCAGTTGCCTCTCACCGGGCTACGGGCAGCAGTGGCCCTGGACTTTGACTATGAGCACAACTGTTTGTATTGGTCCGACCTGGCCTTGGACGTCATCCAG
Seq A exon
CGCCTCTGTTTGAATGGAAGCACAGGGCAAGAGGTGATCATCAATTCTGGCCTGGAGACAGTAGAAGCTTTGGCTTTTGAACCCCTCAGCCAGCTGCTTTACTGGGTAGATGCAGGCTTCAAAAAGATTGAG
Seq C2 exon
GTAGCTAATCCAGATGGCGACTTCCGACTCACAATCGTCAATTCCTCTGTGCTTGATCGTCCCAGGGCTCTGGTCCTCGTGCCCCAAGAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'51-55,'51-52,53-55
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:
NO
A:
PF0005812=Ldl_recept_b=PU(31.7=29.5)
C2:
PF0005812=Ldl_recept_b=PD(63.4=83.9),PF0005812=Ldl_recept_b=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAACGAGTTCATTCTGTATGCTGT
R:
CAGAGCCCTGGGACGATCAAG
Band lengths:
242-374
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains