HsaEX6062854 @ hg38
Exon Skipping
Gene
ENSG00000148180 | GSN
Description
gelsolin [Source:HGNC Symbol;Acc:HGNC:4620]
Coordinates
chr9:121326512-121329315:+
Coord C1 exon
chr9:121326512-121326682
Coord A exon
chr9:121327308-121327482
Coord C2 exon
chr9:121329238-121329315
Length
175 bp
Sequences
Splice sites
3' ss Seq
ACCAAGCTGTACCCTCCCAGGTA
3' ss Score
4.81
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
AGCCGTGTGGTCCAAGGCAAGGAGCCCGCCCACCTCATGAGCCTGTTTGGTGGGAAGCCCATGATCATCTACAAGGGCGGCACCTCCCGCGAGGGCGGGCAGACAGCCCCTGCCAGCACCCGCCTCTTCCAGGTCCGCGCCAACAGCGCTGGAGCCACCCGGGCTGTTGAG
Seq A exon
GTATTGCCTAAGGCTGGTGCACTGAACTCCAACGATGCCTTTGTTCTGAAAACCCCCTCAGCCGCCTACCTGTGGGTGGGTACAGGAGCCAGCGAGGCAGAGAAGACGGGGGCCCAGGAGCTGCTCAGGGTGCTGCGGGCCCAACCTGTGCAGGTGGCAGAAGGCAGCGAGCCAG
Seq C2 exon
ATCGAAGAGGTTCCTGGTGAGCTCATGCAGGAAGACCTGGCAACGGATGACGTCATGCTTCTGGACACCTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148180_MULTIEX2-1/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=0.034 C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(14.5=21.1),PF0062617=Gelsolin=PU(8.7=10.5)
A:
PF0062617=Gelsolin=FE(84.1=100)
C2:
PF0062617=Gelsolin=FE(31.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTGGTCCAAGGCAAGGAG
R:
CTGGTCCCAGGTGTCCAGAAG
Band lengths:
245-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains