HsaINT0069699 @ hg38
Intron Retention
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17555594-17559421:+
Coord C1 exon
chr19:17555594-17555973
Coord A exon
chr19:17555974-17559310
Coord C2 exon
chr19:17559311-17559421
Length
3337 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
CCTGTCCCCTCTCCCTGCAGGGT
3' ss Score
14.54
Exon sequences
Seq C1 exon
TTCACGCCCGGCGCGCTCCTCCCCTTTAAGGCGCGCGGCCGGGCGGGGCCCCTATGACCCCTTTAAGGCGCGGCCAGAGTCCTCCCGCAGAAAAACGACTTAAAGGAGACGCGTGGCGCGATGGCGGCGGCCCCACGCGCGGGCCGGCGGCGCGGGCAGCCGCTCCTGGCGCTGCTGCTTCTGCTGCTGGCGCCACTGCCGCCGGGGGCCCCGCCGGGCGCCGACGCCTACTTCCCCGAGGAGCGCTGGAGCCCGGAGTCGCCCCTGCAGGCGCCGCGCGTGCTCATCGCGCTGTTGGCGCGAAACGCGGCCCACGCGTTGCCCACCACGCTGGGCGCACTCGAGCGGCTGCGGCACCCGCGGGAGCGCACGGCGCTATG
Seq A exon
GTGAGTCGAGCCCGCTGTCCCCATCAGGCGGGTCACGCGAGCCCCTGCTTGCTGTCCCCATAGGGGTGGGTCCACGCGAGCCCCTGCCCGCTGTCCTCTTCTGGGCGGGTCCGCGCGTGCTTCCTGCTCGCTACCCCCATCGGGACGGTTCTACGCATGCCCCTGCCCGCTGCCCCCATCGGGACGGGTCCACGCGTGCCCCCTGCCTGCTGTCCTCCCATGGGGCCAGACACAGCCCTCCCCACAACACAAGCGGGACCGAGTTCCTCCTGCTGGCTCCTTTGGGGTGGGCTGGGCACCGCTTCTGCCTGCTGGACCCTACTAGGGCAGCTCCGGCCTCACTAACTGGGGCTCTAACTCCCTCTGGGGCACGTACACCTCCAAAGGACGGAGCCCAGAGCCCCCACTGGGGCGTTGCCAGAGGCCACATCTAACAGCAAGCCTTTCTGTGCCGGCTGCTGCCCTTAAGCTTGAACTCAGCCTGGCTCCAGGCCCCAGTCAAACCCCTGCCCTCAGACCGGCGTGGGTGGAGTCCAGGACCAGATGGCCCAGGAGGAAGTGGATGCTTTCTTGGTAGGGAATGGGGCAGAGCTCTGAAGAAACCTTTGACTGGTGACTTCTCACTCCCTGCCTCAGTTTTCTCAAATGGAAAATGGGTCCGGGTGCAGTGGCTCACGCAGTAATCCTAGCAATTTGGGAGGCCAAGGTAAGCGGGTCACTTGAGCTCAGGAGTTCGACACCAGCCTTGCCAACATGGCAAAACCCCGTCTCTAGAAAAAAAATACAAAAATTAGCCAGGTGCGGTGGTGTGTGCCTGTAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGAATCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGACCTATGATTGCACCACTGCACTCCAGCCTGGGCTACAGAGTAAGACCTGCCTCTAAAAAAAGAAAAAGAAAAGAAAATGAGCGTATTAATATAATTCTCTTTTTGGGTTTGTCTCTGAAGATTATCCAGTTAATGGATGTGGAGCCCTTGGGTCTGGCATGGGCTTGGCTCTCAGTGATTTTATTATCATGATTACTGTCATTGCTGGTGTTATTGTCAACTTAATTTATTGGGCAGAATTAGCTTTTGGCACTACGGTCAAACTAAACTCCCAAATGTCGCTTTTCCTTCCACCTGATTTCTCAGTCTGGATAATCCAAATACACAATTGGTACTTAACAAATGTTTGTTGAATGAATAATTGACTGCAGCCCACTGAAGTGGTGTGGCTCACAGGAGAAGATGAAGGCAGGGTAAGGGATTTATGAGATATACTTTGAGATATACTTTTTTTTTTCTCTCAGACGGAATCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGACACGATCTCAGCTCATTGCAACCTCCGCCTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGTCAGGGTTTCACCATTGTGGCCAGGCTTGTGTTGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCTAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCCTGCTGAGATATACTTTTTTTTTTGATACAGGGTTTTACATCTGTCGCCCAGGCGGGAGTGCAGTGGTGCAATCCTAGCTCACTGCAACTTCCCCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAACTGGGACTACAGGCGTATGCCACTGCGCCCAGCTAATTTTTGTATTTTTTCTAGAGATGGGGTTTTGCCCTATTGGCCAGGCTGGTCTCGAACTCCCGAGCTCAAGTGACCTGCCCACCTCGGCCTCCCAACATATTGGGATTACAGGCGTGAGCCATTGCACCCAGCTGGTTTCTGATATATACATTTCATTTTTTAATATTTTTTATTTATTTATTTTTTGAGACTGAGTCTCGCTCTCGTTGCTGAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTAGGCTCAAACTCCTGGCCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCATGCCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATACACCCGCCTCGGCCTCTCAAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCTGGCCTGATCTATACATTACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATATTTGTTAGTGAATGTGGTTTGCAAGATCTTAGATGCTCAGTAATAAAACAGCCAATCACTAATGGGTCTTTCCAAAATCAGCTTGTTTAATCCTTCCACTTCCCAGTAAACTGGGTCCTGTTCCCACCCCCATGTTACAGATGAGGAAACTGACATGGAAAGGGAGAAATGGGCCGGGCGCGGTGGCTCACGCTTGTTAAGTCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAACAAAGGAAAGGGAGAAGTGTCCTGTCCAGGGATACATAGCTGGTGGGAGGCCAGTTGGGGATGGTGGTCCTTGACTTGCCTCACTGCTGCCTGGTCCTGCCTCAGTCTCCCCAAGTACGCTGCCTGTCCCCTCTCCCTGCAG
Seq C2 exon
GGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309:ENST00000252599:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.172 A=NA C2=0.148
Domain overlap (PFAM):
C1:
PF137041=Glyco_tranf_2_4=PU(21.5=29.9)
A:
NA
C2:
PF137041=Glyco_tranf_2_4=PU(34.1=96.8)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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