HsaEX0027160 @ hg19
Exon Skipping
Gene
ENSG00000148288 | GBGT1
Description
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:20460]
Coordinates
chr9:136028340-136031323:-
Coord C1 exon
chr9:136031288-136031323
Coord A exon
chr9:136030565-136030699
Coord C2 exon
chr9:136028340-136029648
Length
135 bp
Sequences
Splice sites
3' ss Seq
CACGGCCCCCCTGCTGCCAGGCC
3' ss Score
7.09
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
GTCACAGTACCCTCAGCCCAAGCTGCTGGAGCACAG
Seq A exon
GCCCACACAGCTGCTGACACTCACACCCTGGTTGGCGCCCATCGTCTCCGAGGGAACCTTCAACCCAGAGCTTCTGCAGCACATCTACCAGCCACTGAACCTGACCATTGGGGTCACGGTGTTTGCCGTGGGGAA
Seq C2 exon
GTACACTCATTTCATCCAGTCCTTCCTGGAGTCAGCCGAGGAGTTCTTCATGCGTGGGTACCGGGTGCACTACTACATCTTCACTGACAACCCTGCAGCCGTTCCCGGGGTCCCGCTGGGTCCCCACCGGCTTCTCAGCTCCATCCCCATCCAGGGTCACTCCCACTGGGAGGAGACATCCATGCGCCGGATGGAGACCATCAGCCAGCACATTGCTAAGAGGGCTCACCGGGAGGTGGACTACCTCTTCTGCCTTGATGTGGACATGGTGTTTCGGAACCCGTGGGGCCCTGAGACCTTGGGAGACCTGGTGGCTGCCATTCACCCAAGCTACTACGCCGTTCCCCGCCAGCAGTTCCCCTATGAGCGCAGGCGTGTTTCCACTGCCTTTGTGGCAGACAGCGAAGGGGACTTCTATTATGGTGGGGCAGTCTTCGGGGGGCAGGTGGCCAGGGTATATGAGTTTACTAGGGGCTGCCACATGGCCATCCTGGCGGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148288_MULTIEX1-3/3=2-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.079 A=0.049 C2=0.018
Domain overlap (PFAM):
C1:
PF034148=Glyco_transf_6=FE(10.7=100)
A:
PF034148=Glyco_transf_6=FE(40.2=100)
C2:
PF034148=Glyco_transf_6=PD(67.4=99.1)
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:
TCACAGTACCCTCAGCCCAAG
R:
CAATGTGCTGGCTGATGGTCT
Band lengths:
250-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)