HsaEX6063722 @ hg19
Exon Skipping
Gene
ENSG00000148288 | GBGT1
Description
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:20460]
Coordinates
chr9:136036854-136039332:-
Coord C1 exon
chr9:136039141-136039332
Coord A exon
chr9:136037729-136037919
Coord C2 exon
chr9:136036854-136036919
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-'0-1,'0-0,1-1=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 Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)