HsaINT0069707 @ hg38
Intron Retention
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17577195-17577467:+
Coord C1 exon
chr19:17577195-17577271
Coord A exon
chr19:17577272-17577360
Coord C2 exon
chr19:17577361-17577467
Length
89 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
GGGGACTCTCCGGGCTGCAGGTC
3' ss Score
3.49
Exon sequences
Seq C1 exon
TGAAGCACCCGCCCGCAGAGCCCTCCCGCTTCATCTCGGCTCCCACCAAGACACCGGACAAGATGGGCTTCGACGAG
Seq A exon
GTGAGCTGGGCCTTCCCTGGAGGCGGGGCGGGGGCTGGAGGGCCCTTGTTTGCAGGGGCTGATCTGGCTGGGGACTCTCCGGGCTGCAG
Seq C2 exon
GTCTTCATGATCAACCTGAGGCGGCGGCAGGACCGGCGGGAGCGCATGCTGCGGGCGCTGCAGGCACAGGAGATCGAGTGCCGGCTGGTGGAGGCCGTGGACGGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309:ENST00000252599:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.257 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0175512=Glyco_transf_25=PU(1.1=7.7)
A:
NA
C2:
PF0175512=Glyco_transf_25=FE(18.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCCTCCCGCTTCATCTC
R:
GTCCACGGCCTCCACCAG
Band lengths:
162-251
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development