HsaEX6063722 @ hg38
Exon Skipping
Gene
ENSG00000148288 | GBGT1
Description
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:20460]
Coordinates
chr9:133161467-133163945:-
Coord C1 exon
chr9:133163754-133163945
Coord A exon
chr9:133162342-133162532
Coord C2 exon
chr9:133161467-133161532
Length
191 bp
Sequences
Splice sites
3' ss Seq
ACAAAAGTGTTCCTTTGCAGGTG
3' ss Score
8.63
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
CTCTTTTCTGTCCTCTTTCCTGTCTGTCTTCCTCTTTTCTGTCTGGCCCGCGGCCCCGCTGCCTGCCCTGCTCCAGGCTCCACCTGCGCCGCCGATCGCCCGGGTATCGCGGGGGCCCAGGCCAGCTGAGTCCGTTTTCCGCGCCGGGGTGGCGCCCCTCCAACCGTCCTAACGCCGGGCCGGCAGCAAGGA
Seq A exon
GTGTTCCTGGGACCTCAGAGACCAGGCTCAGAGCCTGACATCCCTGCGAGGGGACAGCCTCATCCGCCCAGGCCAGTGGGGGTCTCTACAAGTGCCCAGGCTCAGGTGCAGCCCCCAGCAATGCATCGCCGGAGACTGGCCCTGGGTCTGGGGTTCTGCCTGTTGGCGGGCACAAGCCTCAGTGTCCTGTG
Seq C2 exon
GGTGTATCTTGAGAACTGGCTGCCAGTCTCCTATGTCCCCTATTATCTCCCCTGCCCAGAGATCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148288-'0-3,'0-2,6-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF034148=Glyco_transf_6=PU(12.5=58.3)
C2:
PF034148=Glyco_transf_6=FE(19.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGTCCTCTTTCCTGTCTGTCT
R:
GGGCAGGGGAGATAATAGGGG
Band lengths:
243-434
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains