HsaEX6093848 @ hg38
Exon Skipping
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17572483-17577467:+
Coord C1 exon
chr19:17572483-17572602
Coord A exon
chr19:17577195-17577271
Coord C2 exon
chr19:17577361-17577467
Length
77 bp
Sequences
Splice sites
3' ss Seq
TCAACGTCTGTGCCCCACAGTGA
3' ss Score
7.12
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
AGGTTCAGATGTATGTGTGCAACAAGGAGGAGTACGGATTCTTGCCAGTGCCATTGCGCGCCCACAGCACCCTCCAGGATGAGGCCGAGAGCTTCATGCATGTGCAGCTGGAGGTCATGG
Seq A exon
TGAAGCACCCGCCCGCAGAGCCCTCCCGCTTCATCTCGGCTCCCACCAAGACACCGGACAAGATGGGCTTCGACGAG
Seq C2 exon
GTCTTCATGATCAACCTGAGGCGGCGGCAGGACCGGCGGGAGCGCATGCTGCGGGCGCTGCAGGCACAGGAGATCGAGTGCCGGCTGGTGGAGGCCGTGGACGGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309-'18-23,'18-21,22-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.257 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0175512=Glyco_transf_25=PU(1.1=7.7)
C2:
PF0175512=Glyco_transf_25=FE(18.8=100)
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:
GTGCAACAAGGAGGAGTACGG
R:
CTCGATCTCCTGTGCCTGCAG
Band lengths:
182-259
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains