HsaEX6005304 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121490043-121513104:+
Coord C1 exon
chr11:121490043-121490110
Coord A exon
chr11:121496869-121497049
Coord C2 exon
chr11:121513003-121513104
Length
181 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTCTGCCAGGGG
3' ss Score
10.13
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
CTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTG
Seq A exon
GGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTG
Seq C2 exon
CATCTCTTGGGCAGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTTGGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'21-19,'21-12,22-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
TCAGATGACTTTGGCCAGACC
R:
TTGTGACAAACTGGGCTGCTC
Band lengths:
147-328
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains