HsaEX0059307 @ hg38
Exon Skipping
Gene
ENSG00000136856 | SLC2A8
Description
solute carrier family 2 member 8 [Source:HGNC Symbol;Acc:HGNC:13812]
Coordinates
chr9:127397138-127400006:+
Coord C1 exon
chr9:127397138-127397286
Coord A exon
chr9:127397905-127398111
Coord C2 exon
chr9:127399907-127400006
Length
207 bp
Sequences
Splice sites
3' ss Seq
CAGCAGCCGCCCGCCTCCAGGCT
3' ss Score
2.96
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GCCCATTGGCTGCGAGAGGCCGGTGCGGGCCGCACTCGCAGGGCCCGTGGCGGTTCAGGCGCCAGAGCTGGCCGATCGGCGTTGGCCGCCGACATGACGCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAG
Seq A exon
GCTGTCGTGACCCTGGGTGCCGCGGCGGGGGGAGTGCTGGGCGGCTGGCTGGTGGACCGCGCCGGGCGCAAGCTGAGCCTCTTGCTGTGCTCCGTGCCCTTCGTGGCCGGCTTTGCCGTCATCACCGCGGCCCAGGACGTGTGGATGCTGCTGGGGGGCCGCCTCCTCACCGGCCTGGCCTGCGGTGTTGCCTCCCTAGTGGCCCCG
Seq C2 exon
GTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTCGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136856_MULTIEX1-2/8=C1-3
Average complexity
C2*
Mappability confidence:
88%=100=88%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.877 A=0.000 C2=0.037
Domain overlap (PFAM):
C1:
NO
A:
PF0008319=Sugar_tr=FE(20.6=100)
C2:
PF0008319=Sugar_tr=FE(33.3=100),PF100274=DUF2269=PU(40.2=97.1)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCATTGGCTGCGAGAGG
R:
CCAGGTAGGCCAGGAGGATG
Band lengths:
245-452
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