HsaINT0069700 @ hg38
Intron Retention
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17579482-17580905:+
Coord C1 exon
chr19:17579482-17579609
Coord A exon
chr19:17579610-17580698
Coord C2 exon
chr19:17580699-17580905
Length
1089 bp
Sequences
Splice sites
5' ss Seq
CATGTGAGT
5' ss Score
7.83
3' ss Seq
GGCCCGATCTTGCACCCCAGCTA
3' ss Score
4.13
Exon sequences
Seq C1 exon
GTGGTGGACCGGGGGCTGCAGAAATCGCTTGTGTTTGAGGATGACCTGCGTTTTGAGATCTTCTTCAAGAGACGTCTGATGAACCTCATGCGGGATGTGGAGCGGGAGGGCCTGGACTGGGACCTCAT
Seq A exon
GTGAGTGGGGGTCTGAGGATGGGGTGAAGCTGGGGCCTGGGGCAAGGCCAGGACTTAGAGGTGGGGGTGGGGGCAGGGTGGAGCTGGGACCTGGGGATGGGTCATGGCTTAGAGGCGGGGCTTGAAGGTGGGGTGGAACTGGAGCCTAGGTACATGGCCAGGGCTTAGAGGTGGGGCTGGGAGGCGGAGTGGAGCTGAATCCTACGGGCGTGGCCACAGCGCTGCAGCTGAGCCTAGAGCCTGTATGTCTGGGTGTGGTCAGGGTGGCAGGCGTGGCCAACCCTTGGAAGCGTAGCAGGAGGGCTCACGTGGTTCCTGGGCCTGAAGGCACTGTCAGGGCTGTAGCCTATAGGGAAGGGCGTTGGAAGGATCACCCAGAACTCAAGGGACCTGGCCGGAAGCCTGCAGGCTTGGTCAAGGCTTAGAGACTTGACTGAGGCCTGTGGAGGTGGATGTGGCTAAAATTTGACCGGGCAGCCTGTGGGCGTGGCTGAAGAGCATGGGGGTGTGGTCAGAGCTGGAGGTGTGGCCGAAGAGTGTGGGGGCGTGGCCAGGGCGCCTGGTCTTAGACAAGCCCCTGGATGGGAGTGCCACCAACATGTTTCCAGCACTGGAGCCGTCCTTCTCTTCTGTAAGTGGGCTGGTTTGTCCTCTCCCTTCCTCCATCTCTTTTTTCCCTTCCATGTGCAGTGCCCTAATCTGCATTCTGGGAACACTGCCCCATGTGAATAGTAACTGCACCCCTCCATTCCTGACTGCCCCCCCATCAGGGCACCTCGCCCACCTCCACCCCCACTGTCCTCTGAACTCAGAGCAGCTTCAGCCTCAGAGAACGTCTGCGTGATCCTGCTCTCCCCAGCTCCAGATCCTCCATGGCTCCCTCACGCCCTTTGGAAAAACTCACTCTTCTCCCCCATGACCGCCAGACCCCTGGGCTCCTGCATTCACTCCATCCAGTCACAGAGCTCTGCAAACATGCTGAGCCTGCTCCCATCCCAGGACCTGACGGGGTAACTAGATCCCTGGCTTTCTGGGCAAGCTCCCTCCGGAGGGCGGGAGGAGAGTGACAGGCCCGATCTTGCACCCCAG
Seq C2 exon
CTATGTGGGCCGGAAGCGGATGCAGGTGGAGCACCCCGAGAAGGCTGTGCCTCGCGTGAGGAACCTGGTGGAGGCCGACTATTCCTACTGGACCCTGGCCTACGTGATCTCCCTGCAAGGCGCCCGCAAACTGCTGGCTGCTGAGCCGCTCTCCAAGATGCTGCCTGTGGACGAGTTCCTGCCCGTCATGTTCGACAAACACCCAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309:ENST00000252599:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.284
Domain overlap (PFAM):
C1:
PF0175512=Glyco_transf_25=FE(22.6=100)
A:
NA
C2:
PF0175512=Glyco_transf_25=PD(32.3=85.7)
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:
CCGGGGGCTGCAGAAATC
R:
ACTGGGTGTTTGTCGAACA
Band lengths:
327-1416
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development