HsaINT0069702 @ hg38
Intron Retention
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17559311-17560465:+
Coord C1 exon
chr19:17559311-17559421
Coord A exon
chr19:17559422-17560347
Coord C2 exon
chr19:17560348-17560465
Length
926 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
TCACAGCTGCCTCCCCATAGGTC
3' ss Score
9.64
Exon sequences
Seq C1 exon
GGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAG
Seq A exon
GTGAGCATCTTTCCCCTGCTCCTAGTCTGATTGGGCTTTGCCTCTGCTCACACACCCTCTATGGCTCCCCATTGCCCCAGAACAATTACAGGCCCTCAGTCCCTGCCTCCAGCCCAGCCAGGCAGCATTAAGCTACTCTGAGCCTCCCTCAGCTTTACAAATAGGCCATAATCCTCTTCTCAGACCTTTGCCCAAGCCGTTCCCTGTACCTAGAATTCTTTCACTCCCTTTTTCTTCTGGGGACGCCCACTGCTTTGTTCCCTGGCTCACTGACTCAGTCTTGGTCCCAGCACTGGCTTTGCTGTTTATCTACTCCCTAAAGCCCTGGGCAGCATGGACTCCCTGCCCCCACCCAGTTCCTTTCTGGGTTTTTGTTTTTTTTTTGAGACAGGGTCTCACTCCCTCACCCAGGCTGGAGTGCAGTGGAGTGAACACAGCTTACTGCAGCCTTTAACTCCTGGGCTCAAGCCATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAACCATGCCTAGCTAATGTTTTTGTATTTTTTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAAGTGCTGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATCGCAGGCGTGGGCCACTGCACTGGACCCCACTGAGCTTCCTTCCTTCCTTCCCTCCAGTGTGCCTCGGGCTTTCTTCCCTCCAGGCCTTTGCACAGGCTGTACCTCCGGCCAGGAACATTCTCCCCACTTCTCTTTCCTCGTCGTTTACTTTTTCCCATCCCTCAGATCAGCTTACACGTCCCCTCCTCCAGGAAGCTCTCTCTGAGTACCCCGAAGGCAGCTCAGGCCCTCGCTGGGCTTTGATAGTGCCTTGTGATGTCCACATCACAGCTGCCTCCCCATAG
Seq C2 exon
GTCCTACCCGGACGAGGAAGGCCCGAAACACTGGTCTGACTCACGCTACGAGCATGTCATGAAGTTGCGCCAGGCAGCCCTGAAATCAGCTCGAGACATGTGGGCTGATTACATCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309:ENST00000252599:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.148 A=NA C2=0.245
Domain overlap (PFAM):
C1:
PF137041=Glyco_tranf_2_4=PU(34.1=96.8)
A:
NA
C2:
PF137041=Glyco_tranf_2_4=FE(32.2=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:
GTGGCTACGGACCACAACATG
R:
TGTAATCAGCCCACATGTCTCG
Band lengths:
223-1149
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