HsaEX6005274 @ hg38
Exon Skipping
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121621064-121625277:+
Coord C1 exon
chr11:121621064-121621238
Coord A exon
chr11:121622162-121622268
Coord C2 exon
chr11:121625085-121625277
Length
107 bp
Sequences
Splice sites
3' ss Seq
ATCTCATCTTTAATTTTCAGTTT
3' ss Score
9.12
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
TTGTATGCAGTTGCAGTCAAAGATCTCATAAGAAAGACTGACAGGAGCTACAAAGTAAAATCCCGTAACAGCACTGTGGAATACACCCTTAACAAGTTGGAGCCTGGCGGGAAATACCACATCATTGTCCAACTGGGGAACATGAGCAAAGATTCCAGCATAAAAATTACCACAG
Seq A exon
TTTCATTATCAGCACCTGATGCCTTAAAAATCATAACAGAAAATGATCATGTTCTTCTGTTTTGGAAAAGCCTGGCTTTAAAGGAAAAGCATTTTAATGAAAGCAGG
Seq C2 exon
GGCTATGAGATACACATGTTTGATAGTGCCATGAATATCACAGCTTACCTTGGGAATACTACTGACAATTTCTTTAAAATTTCCAACCTGAAGATGGGTCATAATTACACGTTCACCGTCCAAGCAAGATGCCTTTTTGGCAACCAGATCTGTGGGGAGCCTGCCATCCTGCTGTACGATGAGCTGGGGTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642-'109-118,'109-117,111-118=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:
PF0004116=fn3=PD(61.0=84.7)
A:
NO
C2:
NO
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:
CCTGGCGGGAAATACCACATC
R:
CTCATCGTACAGCAGGATGGC
Band lengths:
256-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains