HsaINT0069701 @ hg38
Intron Retention
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17580699-17583159:+
Coord C1 exon
chr19:17580699-17580905
Coord A exon
chr19:17580906-17581176
Coord C2 exon
chr19:17581177-17583159
Length
271 bp
Sequences
Splice sites
5' ss Seq
AGTGTGAGA
5' ss Score
1.71
3' ss Seq
TCCCCTCCTCCTCCCCCCAGGTC
3' ss Score
14.34
Exon sequences
Seq C1 exon
CTATGTGGGCCGGAAGCGGATGCAGGTGGAGCACCCCGAGAAGGCTGTGCCTCGCGTGAGGAACCTGGTGGAGGCCGACTATTCCTACTGGACCCTGGCCTACGTGATCTCCCTGCAAGGCGCCCGCAAACTGCTGGCTGCTGAGCCGCTCTCCAAGATGCTGCCTGTGGACGAGTTCCTGCCCGTCATGTTCGACAAACACCCAGT
Seq A exon
GTGAGAGGGGCAGGCGGCTGCTGGGCTGGGGTTTCACGGTGGGTCTGTCCTGGGAGAATGGGGATGTGAGACTCACGGCCTCCGAGAAGATGTCTCTTCTTTTGCCTACTTCTCCCTCCGTTTGCCCCCTCGCAGATCTGTCTCCATTTGTATCCCCTGCACACTTACGTTTTAATCTGTCCCCGCTGACTTCTTCACCCCCAATTTTTCCTCCAGCTGTCCCGTCCCCTGAAGCCATTGCTGCCCCTCACTCCCCTCCTCCTCCCCCCAG
Seq C2 exon
GTCCGAGTACAAGGCCCACTTCTCCCTCCGCAACCTGCATGCCTTCTCTGTGGAGCCGCTGCTCATCTACCCCACACACTACACAGGAGACGATGGCTATGTGAGTGACACCGAGACCTCAGTCGTATGGAACAATGAGCACGTCAAGACCGACTGGGACCGCGCCAAGTCCCAGAAGATGCGGGAGCAGCAGGCACTGAGCCGTGAGGCCAAGAACTCGGACGTGCTCCAGTCCCCACTGGACAGTGCTGCCCGGGATGAACTCTGAGGGGTAGCAGCCAGAAAGCCAAAGCAGCCATCGGTGGCCCAGGCTCCACGTGCTTACTGAGGACATCAGGTCCACCTCTGGACCCCTTGGCAGGCCACAGAGGGCTCTCGTGTGGGGTGGTGTCCAGCCAGCTCTTGCTAAGCAATCACGTGCACACAGGCAGCATTAATGGAGTGCCTACTGCATGCCAGCAACAGGGCTTGGCCCTGGGGAATTGGGAGGAACCAAGCCCTCTTCATCTGTTCATGTGCCCAGCATTTATTAAGCACCTGCTGTATGCAAGGTTCCCATGTTACGGCAGTGAATGAGGCATAATTGTTCCCTCCATCAGCGATTGATTCAGTCATCAAGCAGTTACTGATCAGATTAAGAATCAGGCACTAGTGATACACATTCATTTTTAAAATTCATTCAAGGATTTATTGAGTGCCTACTGTGTGTTGGGTGCCATTCCAGGCTCTGGGATTTTTTTTTTTTTTTTTTTAAGAGTAGAGTCTGTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACGGCTCACTGCAGCCTGCGCCTCCCAGCGTCCAGCAATTCTTGTTTCTCGGCCTCCCAAGTAGCTGGGACTATAGGTGCGTGCCATCACATCTGGCTAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTTGGCCACCCAAAGTGCTAGGGTTACAGGCATGAGCCACTGTGCCCAGCCCAGGCTCTGGGAATATTGAGATAAATAAGATGCTTCTATCCATTTATTCAAGCACATATTGGTCACCTACTGTGTGCCTGGCACTCATGTCACAAAGATAAGTTCCTGATTCGGTACACTTACTGAGCACCTGCTGTGTGCAGGGAGCTGAGCTATGGGATGGGAATGGGAGTAAACAAGGTACTTTTTACTTTTTTCTTTTTTTCCTCACTGCTAGACGGTGTGGGAACTTCTCACTCATTGGCTTCTTTCCCACACACCTGAAGAGCACTGACTGTGTGCCGGGCACTAGTGATACAAAAGAGTGTGACAGTTGTTCAGTCTGCATTTTCGATCATGGGCTACATGCCGAGTGCTGGGGCACAGAGATGAACAAGATCGGTTCCTTCACTTCTTCATGCCACAAGTGTTTATTGAGCACCTGTGTGCCAGGCCTCACAGACTCCCAGTTGGGTTGAAGAATGGTTGACTGAGTTTGATTCTTCCTGTACCCTCGGTCGTCTGAGCTGTGTGCAGACAACATCCCCCCACCACCCAAGAGGGAGGGTAGCTCTTCCGCCACCAGGGGCAAGCACAGGTCCTGGTGGCCCCACGCCACATGTTAGCCCCCCTGGAGGGGGCGCCAGTTGGAGACGGGGGCTGGGTGTCCCTGGCCCACTCCCGGTCCCCTGTGCTTTACCTCCTTGCCCTTGTGTCTCAGGTGTGGTCCCTGCCTGCTTGATGAAGTTGCTCTGTTCAAGCCTTTGGTGGGATCATGTGTTTGGGGGCTTTTAGGGGACCCAGCTGCACTGGGGCACTGCCCGTGGCCTGGGTAGGACATTTCCCAGCAAGGGCTGGAGGAGTTGCCGTGCCTTCAGCCTGAATCGAATGTCAGAACCAGCCAGCGGTGCTTCACCCTCTTGGGGATAACTTGCTTAGTTTTTTAATAAATGTTCCTGGTTGGTTTTCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309:ENST00000252599:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.284 A=NA C2=0.348
Domain overlap (PFAM):
C1:
PF0175512=Glyco_transf_25=PD(32.3=85.7)
A:
NA
C2:
NO
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:
GGTGGAGGCCGACTATTCCTA
R:
GTCGGTCTTGACGTGCTCATT
Band lengths:
295-566
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