Special

HsaEX0059305 @ hg38

Exon Skipping

Gene
ENSG00000136856 | SLC2A8
Description
solute carrier family 2 member 8 [Source:HGNC Symbol;Acc:HGNC:13812]
Coordinates
chr9:127397138-127403747:+
Coord C1 exon
chr9:127397138-127397286
Coord A exon
chr9:127399907-127400006
Coord C2 exon
chr9:127403660-127403747
Length
100 bp
Sequences
Splice sites
3' ss Seq
CCTCATCTGATTGCTGGCAGGTC
3' ss Score
7.14
5' ss Seq
CAGGTATAG
5' ss Score
8.73
Exon sequences
Seq C1 exon
GCCCATTGGCTGCGAGAGGCCGGTGCGGGCCGCACTCGCAGGGCCCGTGGCGGTTCAGGCGCCAGAGCTGGCCGATCGGCGTTGGCCGCCGACATGACGCCCGAGGACCCAGAGGAAACCCAGCCGCTTCTGGGGCCTCCTGGCGGCAG
Seq A exon
GTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTCGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAG
Seq C2 exon
AGCTTTCACCTGGCCCTGCTGCGGCAGCCCGGCATCTACAAGCCCTTCATCATCGGCGTCTCCCTGATGGCCTTCCAGCAGCTGTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136856_MULTIEX1-3/8=C1-5
Average complexity
C3
Mappability confidence:
88%=100=88%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.877 A=0.037 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0008319=Sugar_tr=FE(33.3=100),PF100274=DUF2269=PU(40.2=97.1)
C2:
PF0008319=Sugar_tr=PU(11.8=96.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCATTGGCTGCGAGAGG
R:
GACAGCTGCTGGAAGGCCAT
Band lengths:
234-334
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