HsaEX0027160 @ hg38
Exon Skipping
Gene
ENSG00000148288 | GBGT1
Description
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:20460]
Coordinates
chr9:133152948-133155936:-
Coord C1 exon
chr9:133155901-133155936
Coord A exon
chr9:133155178-133155312
Coord C2 exon
chr9:133152948-133154261
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-'14-17,'14-13,16-17
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.078 A=0.039 C2=0.000
Domain overlap (PFAM):
C1:
PF034148=Glyco_transf_6=FE(10.7=100)
A:
PF034148=Glyco_transf_6=FE(13.4=100)
C2:
PF034148=Glyco_transf_6=PD(72.8=99.1)
Main Skipping Isoform:
NA
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