HsaINT0069706 @ hg38
Intron Retention
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17572483-17577271:+
Coord C1 exon
chr19:17572483-17572602
Coord A exon
chr19:17572603-17577194
Coord C2 exon
chr19:17577195-17577271
Length
4592 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
TCAACGTCTGTGCCCCACAGTGA
3' ss Score
7.12
Exon sequences
Seq C1 exon
AGGTTCAGATGTATGTGTGCAACAAGGAGGAGTACGGATTCTTGCCAGTGCCATTGCGCGCCCACAGCACCCTCCAGGATGAGGCCGAGAGCTTCATGCATGTGCAGCTGGAGGTCATGG
Seq A exon
GTGAGTCTGCCTGCACACCGCCCTGGGAGGTGCCAGGTTGCCTCCCTTTCACTGATGTCTCAAATCCGTCCCATGAGCACTGACTGAGTGCCAGGCAGATGCAAGTCCCTGTGGGGGGTGCTGGGTGCAACGGCACGTGTGAACGAGGTGGAGGGTTGTGTCTGCTCTCACAGAGTGCTGGTTTGCAGGTAGCTGTACACAGCATGCTTGGGGTTGTCGGGTGGGCTTCCTGGAGGAGGTGGCATTAAGGGGCAGGTTGAGTAGGAGTTCACCATAAAGGGGATTGCAGCAGGAGGTGGTAGTGTGGGCAAAGGCCGGGAGGCTGGAAGGGACGTGAACCTGGGGAACAGGCAAGGTCAGTGATCCCCTGGGGCTGGTATCCAGGGCCAGGGTGGATGGCCTCAGAGACCAGGCTGAGGAAGGGACCTTCCCCCTGAGGACAGTCAGGAGCTATAGAGGACATGAAAACTGAGAGGACAGCAAGTTTTCACTAAAGAACTGCATGTATAGGCCAGGCATGGTGACTCAAACCTGTAATTCCAGCACTTTGGGAGGCCAAAGTAAGAGGATTGCTTGAGCCTAGGAGTTCAAGATCAGCCTGGGCAACATAGTGAGACCCCATCTCTATATTAAAAAAAATTTTGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAACACTTCGGGAGGACGAGACGGGCGGATCACAAGGTCAAAAGATGGAGACCATACTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTAGCGAATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTTCAGCCTGGCAACAGAGTGAAACTCCGTCTCAAAAAAAAAAATTTTTTTTTAATTAGTCCGACATGGTGGCACATGCCTGTATTCTAGCTACTCAGGAGGCTGAGGTGGGAGAATCCTTTGAGCCCAGGAGTTGGAGGCCGCAGTGAGCCATAATCGTGCCACTGCACTACAGCCTGGGCAATAGAGTAAGTCTGTCTCAAAAATAATAATAATAAAAAATAATTATCCCAGCTCTTTGGGAGGCCAAGGTGGGCGGATCCCTGGAACCCAGTAGTTTGAGAATATCGTGGGCAACATGGTGAAACCTTGTCTTTACCAAAAAAAAATAACAAAAATTAGCCAGGCGTGATGGCACACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCGAGAGGATCCCTTGAGCCCAGGAGGTCGAAGCTGCAGTGAGCCAAGATTGCTTCACTGCACTCCAGCCTGGGCAGCAGAGCCAGACCCTGTATCAATAAATAAATAAATAAAACTTTAAAAAAATCCATGAACTATGAAACCAGCAGCCGTCCCTCTAAAACTGGAGGAGCACGCAGGGCTGAGCTGTAATTGAGGTTGTCTAGGGATGATGCTCCCATCTCAGCCATTGCTAATGTGGGCCTCGCCCTGCACTGGGCGCAGAAAGCCCTGCCAAAGCCACTGCCATTCCCACCACTGCGTAGATGGAGACTGGGTGGGAGGGGTGAGGCCTCTGTCCCGGGGCTCAGTTTCCCCAGCCTTACCGATTTCTGAACGAGTCTATCTGCGGCTCCCCCTGGTGGCTCAAGATGGAATAGCACCCTGCCCTTTGTGTTTTGGGGAGACTTTTTTTTTTTTTTTGAGACGGTGTCTCACTTTGTCACCCAGGCTGGAATGCAGTGGCGCATTCTGGGCTCACTTGAAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTACCTGCCACCACACCTGGCAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGCCTCGAACTCCTGTCCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAATGCTGGGATTACAGGCGTGTGTCACTGCGCCTGGCCTGGGGGAGACTTTTGAGTCTTTTTGAGGTGACACCTGGAGACTGCACAATCACTGGGGCAGGCCCCCCACAACACCCAAGAGTGGCATACTTAGGTGTCCAGGTCCCACCCGGCTACAGTTGGGGGTGGTGGGTCTCCATTTATCACCAACTCCCATCAGAAACGGGCCTGAGAAGCGTCTCTGTGGCTACCAGAGTTTTCCCAGTTTAAGTTCTCACATATATTTGTGTTGTCATTTCCTTTTTTTGAGACAGAGTCTCGCTGTTACCCAGGCTGGAATGCAGTGGCAAAATCACAGCTCACTGCAGCCTCAACCTCCTTGACTCAAGCGATCCTTCCACCTCAGCCTCCTAAGTAGCTGAGACCACAGGTGCATGCCACTACCATGCTCAGCTAATTTGTTAATTTAGGTTTTTGGTTTTTTTGGTTTTTATTTTTTTGAGATGGAGTCTTGCACTGTCGCCTGGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTGCCCCACCTTCCCAAGTAGCTGAGTTTAACAGGCGCTTGCCACCACGCCTGGCTAATTTTTTGTATTTTTATTTTTATTATTTTTTGTTTGTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACATCCGGCTAATTTTTTGTATTTTTATTGGAGATGGGGTTTCACTGTGTTAACCTGGATGGCCTCGATCTCCTGACCTTGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTAGTTTTTTGTATTTTTAGTGGGGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGTGCCCGGCCTTCTTTTTTGCTTTTTTTGGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGTCACCATCATAGCTCGCTGCAGCCTTGAACTCCTGGGCAATCCTTCTGCCTCAGCCTCCCAAGGAGCTACAGATTTCCCCTTTTAAAAGCACACAAGCCATGTGGATTAGGGCCCACCCTAATGACCTCATTTTAACTCGATGACCTCTGTACACAACCCTGTGTCCAAATAGGATCATATCCTGGGGTACTGGTGGTTGGCACTGGGGAGACACAGTTCACCCCATGACATAGTGCATGATCTCATGACATCTCTTTGTGAAACCTCTCAGTGGCTTATTGGCCCATTTTATAGATGAGGAAAGCTGAGGCCCAGGCCAATCAAGAATATACAGCATGCCATCATTTCTTGGTTCATTCTACAAGCAATTACTGAGTGCCTGCTGTGTGCCAAGCCCCTGTGTTGGGCACTAGGGGCCCAGTGTGAGCAGACATACCTGGTGTCCTTCCCAAAGGGCTCACAACAGACAGGCACAGGGCCAGGGGGTTAGGGCAGCAAGGATGCGAGCTTTGGTGGTGCAAGTCCAGGTGCTGCTGGGGCCCAGAGGAGGTGCCTGGCTCAGCCTAGGGAGGTGGGAGTGGGGAGGGTGACCCCCATGCCCAGGGCATCATAGCTGAGAAGTAACGTTACAGAGCAGGGAAAGGAAGGGTATTTCAAGCAGGGATCCAGCATGTGCAAAGGCCCTGAGGTAGGAATGGGGGTTCTTTGGGTTGGCAGGGGCATAGAGGTGGGGCTGGGGGGTAGAGTGAAGCTGGAGCATGGGGCGTGGCCAGGGCTTAGAGGCAGGGTTGGGGGCGGAGTGAAGCTGGAGCCCAGGGCGTGGCCACGGCTGAGAGTCGGGGCTGGGAGCAGGGTGAAGCTGGGGCCTGGGGTGTGACCAGGACTTAGAAGCGGGGCTGGGGGTCGGAGCGAAGCTGTTGCATGGCCAGGGTTTAAAGGTGGGGCTGGGGGGGTGCAGGGTGAAGTTGGAGCCTGGGGCATGGCCAGGGCTTAGAGGCAAGGCTGGGGGAGGCTGTGGGGTGAAGCTGGGGCCTGGGGCGTGGCCAGGGCTGAGTGGTGCGGCTGGGGGGCAGGTTGAAGCTGTAGCCTGGGGTGTGGCCAGGGCTTAGAGGCGGGGCTAAGGGCAGGGTGAGGCTGGGACCTGGGGCGAGTCCAGGGTTGAGTAGCGGGGCCTTGGGCGCGGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTGAGAGGCAGGACTGGGGGCGGGGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTTTGGGCTGCTGTGCAGGGTTCAAATGACATGGGAGGGGCTCCTAGAGGGCAGCGCTGATGTGGGCGGAGCCAGGTCGACTTTGTGGGCCGAGCCAGTCTGACTGGGAGCCATGGAGTGGGTGGGGAAAGCGTGTTGGAGAGAGGCTGGAGGCTCCTTACCCCAGCGACTCCTCAACGTCTGTGCCCCACAG
Seq C2 exon
TGAAGCACCCGCCCGCAGAGCCCTCCCGCTTCATCTCGGCTCCCACCAAGACACCGGACAAGATGGGCTTCGACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309:ENST00000252599:6
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=0.257
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0175512=Glyco_transf_25=PU(1.1=7.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping 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