HsaEX0059309 @ hg38
Exon Skipping
Gene
ENSG00000136856 | SLC2A8
Description
solute carrier family 2 member 8 [Source:HGNC Symbol;Acc:HGNC:13812]
Coordinates
chr9:127402557-127404067:+
Coord C1 exon
chr9:127402557-127402753
Coord A exon
chr9:127403660-127403803
Coord C2 exon
chr9:127403959-127404067
Length
144 bp
Sequences
Splice sites
3' ss Seq
GCCAGTATCCGTCAGAGCAGAGC
3' ss Score
-4.92
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GCTGGGTGCTGGAGTGGCGCTGGCTGGCTGTGCTGGGCTGCGTGCCCCCCTCCCTCATGCTGCTTCTCATGTGCTTCATGCCCGAGACCCCGCGCTTCCTGCTGACTCAGCACAGGCGCCAGGAGGCCATGGCCGCCCTGCGGTTCCTGTGGGGCTCCGAGCAGGGCTGGGAAGACCCCCCCATCGGGGCTGAGCAG
Seq A exon
AGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGGGGGTCAACGCCGTCATGTTCTATGCAGAGACCATCTTTGAAGAGGCCAAGTTCAAG
Seq C2 exon
GACAGCAGCCTGGCCTCGGTCGTCGTGGGTGTCATCCAGGTGCTGTTCACAGCTGTGGCGGCTCTCATCATGGACAGAGCAGGGCGGAGGCTGCTCCTGGTCTTGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136856-'9-17,'9-15,12-17=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.062 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008319=Sugar_tr=PD(59.2=87.9),PF100274=DUF2269=PD(59.0=69.7),PF0008319=Sugar_tr=PU(3.5=7.6)
A:
PF0008319=Sugar_tr=PU(11.8=96.2)
C2:
PF0008319=Sugar_tr=PD(18.4=94.6)
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:
TGCTGCTTCTCATGTGCTTCA
R:
CTGACAAGACCAGGAGCAGC
Band lengths:
249-393
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development