Special

HsaEX0059311 @ hg38

Exon Skipping

Gene
ENSG00000136856 | SLC2A8
Description
solute carrier family 2 member 8 [Source:HGNC Symbol;Acc:HGNC:13812]
Coordinates
chr9:127403959-127405565:+
Coord C1 exon
chr9:127403959-127404067
Coord A exon
chr9:127404818-127404991
Coord C2 exon
chr9:127405420-127405565
Length
174 bp
Sequences
Splice sites
3' ss Seq
TGCCGCCCTCCCGCCTGCAGGTG
3' ss Score
12.94
5' ss Seq
CCGGTAAGG
5' ss Score
10.19
Exon sequences
Seq C1 exon
GACAGCAGCCTGGCCTCGGTCGTCGTGGGTGTCATCCAGGTGCTGTTCACAGCTGTGGCGGCTCTCATCATGGACAGAGCAGGGCGGAGGCTGCTCCTGGTCTTGTCAG
Seq A exon
GTGTGGTCATGGTGTTCAGCACGAGTGCCTTCGGCGCCTACTTCAAGCTGACCCAGGGTGGCCCTGGCAACTCCTCGCACGTGGCCATCTCGGCGCCTGTCTCTGCACAGCCTGTTGATGCCAGCGTGGGGCTGGCCTGGCTGGCCGTGGGCAGCATGTGCCTCTTCATCGCCG
Seq C2 exon
GCTTTGCGGTGGGCTGGGGGCCCATCCCCTGGCTCCTCATGTCAGAGATCTTCCCTCTGCATGTCAAGGGCGTGGCGACAGGCATCTGCGTCCTCACCAACTGGCTCATGGCCTTTCTCGTGACCAAGGAGTTCAGCAGCCTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136856-'14-23,'14-21,15-23=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

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

C1:
PF0008319=Sugar_tr=PD(18.4=94.6)
A:
PF0008319=Sugar_tr=FE(27.5=100)
C2:
PF0008319=Sugar_tr=PD(16.3=93.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCGGTCGTCGTGGGTG
R:
CATGAGGCTGCTGAACTCCTT
Band lengths:
242-416
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