HsaEX0059308 @ hg38
Exon Skipping
Gene
ENSG00000136856 | SLC2A8
Description
solute carrier family 2 member 8 [Source:HGNC Symbol;Acc:HGNC:13812]
Coordinates
chr9:127399907-127403747:+
Coord C1 exon
chr9:127399907-127400006
Coord A exon
chr9:127402557-127402753
Coord C2 exon
chr9:127403660-127403747
Length
197 bp
Sequences
Splice sites
3' ss Seq
CCTCCACCCACCCCCCGCAGGCT
3' ss Score
9.7
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTCGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAG
Seq A exon
GCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCTCCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAG
Seq C2 exon
AGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136856_MULTIEX1-4/8=3-5
Average complexity
S*
Mappability confidence:
86%=100=86%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.037 A=0.062 C2=0.000
Domain overlap (PFAM):
C1:
PF0008319=Sugar_tr=FE(33.3=100),PF100274=DUF2269=PU(40.2=97.1)
A:
PF0008319=Sugar_tr=PD(59.2=87.9),PF100274=DUF2269=PD(59.0=69.7),PF0008319=Sugar_tr=PU(3.5=7.6)
C2:
PF0008319=Sugar_tr=PU(11.8=96.2)
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:
GTCTACATCTCCGAAATCGCCT
R:
GACAGCTGCTGGAAGGCCAT
Band lengths:
186-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development