HsaEX0062042 @ hg38
Exon Skipping
Gene
ENSG00000136840 | ST6GALNAC4
Description
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [Source:HGNC Symbol;Acc:HGNC:17846]
Coordinates
chr9:127914656-127917038:-
Coord C1 exon
chr9:127916929-127917038
Coord A exon
chr9:127916408-127916494
Coord C2 exon
chr9:127914656-127914841
Length
87 bp
Sequences
Splice sites
3' ss Seq
GAGTTTCTGGGTCTTGGCAGGTG
3' ss Score
7.33
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
CTGCCTCTGGCCGCGCGGATCAGCTTCCAGCCCAGTCGGCCCGGCCCGGGGGCCATGGAGCTCCGAGCGGCGGATCGCGAGCCTCCTGCGAACCCCAGCCTGCACGCCCG
Seq A exon
GTGCCCGGCTCCCACCCCTTCCCAGCCCCAGCCCTGGAGACAGCAGCCCCTAGACTACTGAGGGACAGCGACAGCATGAAGGCTCCG
Seq C2 exon
GGTCGGCTCGTGCTCATCATCCTGTGCTCCGTGGTCTTCTCTGCCGTCTACATCCTCCTGTGCTGCTGGGCCGGCCTGCCCCTCTGCCTGGCCACCTGCCTGGACCACCACTTCCCCACAGGCTCCAGGCCCACTGTGCCGGGACCCCTGCACTTCAGTGGATATAGCAGTGTGCCAGATGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136840_MULTIEX1-1/7=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show structural model
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0077713=Glyco_transf_29=PU(5.3=21.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
GCGCGGATCAGCTTCCAG
R:
CCAGCAGCACAGGAGGATGTA
Band lengths:
167-254
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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