HsaINT0069712 @ hg38
Intron Retention
Gene
ENSG00000198756 | COLGALT2
Description
collagen beta(1-O)galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16790]
Coordinates
chr1:183935837-183940787:-
Coord C1 exon
chr1:183940581-183940787
Coord A exon
chr1:183939038-183940580
Coord C2 exon
chr1:183935837-183939037
Length
1543 bp
Sequences
Splice sites
5' ss Seq
CGTGTGAGT
5' ss Score
7.42
3' ss Seq
GGCCACCTTCTTGTTTTCAGAGC
3' ss Score
7.78
Exon sequences
Seq C1 exon
TTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGT
Seq A exon
GTGAGTCTCCCTGAACTGCCTGCCTTCCCTTGGGCACAGCCTCTTCATGAATTATGCTCTCCATTTCTGGTAGTACTTGATATTTTCTAAAGTTGTACTGCTTTCCTAAATGATCTTCTCATAATTATGATTAAGAGAGCCTAACTCAGGTGATTTATCCCTTTGTACAGATGGGAAGGTGAGGCAGAGATGGTGAGTGTCCTGCCCAGAGATTCTTGTAATATCCAGTTTGTAGTTGAACTGAATGTAATGTGCTTGGTCCCCTCCTTGTCTTTGCTCTTCTTATTTCCATAACCTCATACACCTCAAGGTGAAGGCCATCTTCCTAAGCACCTCAAAATTTCCAGTTCCTTTGGCTCAGGTCATTGGGTACTGTTGGCTAAGCAGAGATACCCATTTTTGCATAGCTCACAATCTGGTCAGGAACCCAGACTCATGAACAAATCATCATGATATATTGTGATTCCTGCAATCGCAGGGGTGTGTAAGAGGTTCAGGGAGTGTGGACCTGATACCTGAGCATGATGTCCATGGAAGAAGGGCAGTGTGATGCTTGGGGCTCCCATAGCCCAGGAGCTTACCCTGACCTAGCGCTTATCAAAAGGTGTGGCAATTAATGATTTACCTGTCAATCTCCCCAATAAACTATAAACCCTTTGGGGCAGTAACAGTCTTATGCCTCTGTGTCCTTAGAGCCTAGTCCAAATGCTACACATAACAGCAGCTCCTAAATCATTAATGAATGATTCCTAAATTCATTGATGGAGCAGCATTCGTTCTAACCTTGGCCCCTTCTCTCAGTTGCTGGGTGATCTCGTCACTAGATGGTCTCATTTTAGCTGTTGAGATTTCCTGTGCTGCCACCAGTTCATTTTGTCTCTTGTCCTCAGTAAAAATGGAGTTGTGTGCCCTCTTGTATATAACATGTCAGAGACTGACTTTATCTCTGTGTCCTAGCAGAAACATGGAGGTCAAACCATTATCCCCTAAACAAAAGGGAAATTACTACATTCAGATGTCACCTCATGTACTCTGCACAGGAGCCCTGAGAGGGAGGCCAAGTCATCCGTCTCCTTTACACCTGTTGGAACCGGAGTGGTGAGCAGGGAGCTAGAGCACAAAGCCAAGCCTGCGTGCCTCTAAGCCTCCACGTGCCACATGCCCCATCACTGCTGTCCAGATGTGAGGTGTCTCATTTATTAATCCCAAAGCAGGGCATTTTTGGTGAAGTGATCGTATTTATTTATCATTATGGTCTAACAGGGCTTACTTTTTAACTTTTGGAGTCAGACCTGAAATTCATCTTTTAAACTAGTCTATTCAAATACGTCAGAAATGTCCTGATCTTTTTGCTTGGGAGCTTGTCTTTGGAAAGCTTTTAAAGAAATATTTGTGTTTGTAGGCTAAAGTTTTTCACAAATGACACAATTGAAATAATGAAATGAACTCATGAGGTAACCAGGAGGCCTCCTTCACTCTTTGTCCCTGTTCCGTAAGTCTCCTTTCCGCCCCCTCATGTGTCCGGCCACCTTCTTGTTTTCAG
Seq C2 exon
AGCCGAGTACAAGGAGTATTATGAATCCAGGGACCTGAAAGCCTTCTCTGCAGAACCCTTGCTCATCTACCCTACGCACTACACAGGCCAGCCGGGGTACCTGAGTGACACGGAGACCTCCACCATCTGGGACAATGAGACAGTGGCCACCGACTGGGATAGGACACATGCCTGGAAGTCCCGGAAGCAAAGCCGCATCTACAGCAATGCCAAGAACACAGAGGCCCTGCCACCGCCAACCTCCCTGGACACTGTGCCTTCAAGGGATGAGCTATGAAGGCTCCCTGGGAGTGTGGCCCACATCAGTTCAACATCCTCTGGTTTTTCTAAAGGGCTATTCATCTGTTTGCTCCAGTTTTCTGTTTTGTTTTGTTCTTAGTGGTCACAGTCATCTAACCAAAGTGATCTAGTGTGATAGATCGAAATTAACATATTTTTGACCATGGAAGGAAATAAGGAAATTCAACCCAAATTTCCCAAGACGGCTGAAAGACAGGTTTTTTGGAAACTGTTAAGATAAACTGTAATCCAGACACCTAATTCTTCAGTTCACTACTCATGTGATACTGATTCCCACATTAAGGTTGAACAACATGGCTCAGAGTCTTGTTCAAGAGAAAGTGATCACCGAGCTGTCACATCAGCAAATATGTAGTCAAGGCAGCCAGGCCAACTAGACCACACTTATTGGTCTAGTTTGTCCGTTTTATATGACATTGAAAACTTGTGTGTGCAACTTTTGGGGGACAGGAATCACTTAAAATCATATTTATTTGGCTTTTTATTTAAAGGATTCTGTCACAAGTCTTATTGAAAAGTAGATTTTTTAAAAAAAAAAAATCTTAGTCCCTGTTATCCAGTAGGGGTGGGTATTTGGGTCCGACTGAGACTTGGCCTGTGACCATCATGGCAGTTGGAGTTCTCATATAGAGGTGACCAGTTTGCCATGTGGATATAATTTAGTAGATATTTGACAGTTTGTGTAGGTATTTGAGGGAAAAAACTCAATGTTTGGCTTTTTTATTATGGCCACTCGAGTCAGGATGCTCTATTTATAAAGATAAATGTAATATATAAAGGGTGAGGACTGGCTGTGCATCCTGCCCTGTCCCGGGTTTGCGCGCTGCTACAGAGCTTCACGCTCTCCGCTCCACCCCTTAGCCTGGGAACCCACCGCAGGTGTGAGTTCTGTGAGTCACTGCTAAGAGACAGAGCACATTTTCAGGCCAGCAACTATCCTTGCCAGAGTTTTTTCATTATATTTTGAATTATTTATTTTACAAAATGGGCGAAGATATTGTCTTTAGGATAAGGCAGAGAAACAGATGTTGCAGACTTCCACGGCACCCGGGGGAGTGGTGGGTGTGGACACATTGGTTCGGCAATCTGATTCTCCTGAATTTCCCAGCCAGGCTCTTGTGGGGAGGCCTGTGGATGGGGGGATTTGAACTATTTGGAAACAAATGATTCTCTATCTCAGGTGAGAAACCTGGTCAGAAACAAAGGGCTGGTCACCTGATTTAGGCCAGCAACCAGGGAAGCTCTTAGAATCCCAGGCGGACACCCTTTCTCAAAAGATATCCCCTAAGAGTCCTTTCTGCTTTCTTCACAGATTGATTTTATGTAAAATGCAGAGTTGGACTACACGATTTCTTCCCACTCCACAATCTGTCATCCTAGTATAGATCATGGTGGTTTCCCTCAAGTTTATGTTCTCATGCCCTCAATCTGTAAATTTTTGTCTCCAGAAAAACCCTCCCAGGCATCCCATACCAGCACCGTTCCTCATCACTGTCCATGCACCATGCAGCCATATGGGGGGCCGTGCACACCCCAAACCCTGAGCTTCACACTTAAACTCATGGGGAGGGCCCTTCAGAGCAGAGTCCACAGGCGGGTGGTGCTACATACACAAGCTTAGTGTACGAGTGTAAGATACACTTTAAGCCAGACACCTAATTCTTCAGTTCACTGCCCATGTGATACTGATTGCCACATTAAGGTTGAACAGCATGGCTCAGAGTCTAGAGAAAGTGATCACCAAGCTGTCTCATCACCAAATAGGTAGTCAAGGCAGCCTCATCTCCCCAGGTGAGGGGCGGGTCCCCACTTTAGGACAAGAGGCAGCTTGCCTTCCACCAGACGCCAGCCTCGGCCTTCCTTCCCGACTCACTGTGGGTACCCTTCTACACTGACCAGCAAGCTAGGCCGCTGGAGGAAAGGGAACTCACCCAACTCTAAATTGTGCCGCTTAGACTTAGCTGTCAGTGTGACTTCCTTTCCCACCCACCCCCAGAAAAACAGAAAGAGCATCTGGGGAGCGAGTGAAAATTCCTTAGGTGATTCCTAAGATTTCCTTGGGTATCTGGTTTTTGTTTTCATATTTGAGTGTGTGCATGTGTGCATGACTTTAATGACTTTTTTAATGGGGTGGGAGGTGGCTGGGGTGCTGGGGTTGAAGGAAGTTTGGGTTGATTTTTGTGGTGTTTTGTTTAATAGAGAATTTTTTTTTTCCTGTTCCCCTGTCAGCTGGTCTGACAGATTTAAGAACTCTCATTCTTAAAAGACTTTGGACTTAAATTCTAGCATTTTAGACTAGGACTGTTCTACTGTGAAGAAAGTTCTGTCTCCTTTAGCCCGGTTTGTTTCTCCCTGCTCAGGTCTAGAATCCCAAGCAGTGTTCTTTTCTGGTGAACACTGTGAGCCGCAGATGTGACTTTTTTTTTAAAGTCATCTCTTCAGCAATCCAGAGGTTCCTTGACCTCATTATTTGTCCTATCTCTCCCTTATAGTCCTAAGCCAAGACATTTGACCTTTGACATTTGACCTTTGCAGTGTCATGTGAGGGCGTCAGTATAGAGGCCTTTGCATCTGGGCCTGGCACCCGCTCTCTGCCTCTGGAGGCTAAACCCTGTCTGGATTTCTCTTGGGATCTAACGTGGGATCTTCTGGACAGACAACCGTGACATCAGCAGTGCTGGTGCTGCTGTGTGTGGACTGAACACCTGCACTTTGCAGAGGACACGCTGCATGGGCCCCGCTTGCGGTTCATTCAGGCCTGCTGCAGGAGCTCTGAGAACAAGAAAGAGTGGACACCCGTTCCCCTGCATCATCTGTCTTGCGTGCTATTTCAGAGTGGGGAAGTGATAAACTATTTGCCTTCTGGAGCTCTTTGTGAAAAATTAAAAAAAAACTTAGCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198756:ENST00000361927:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.283
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:
CAGAAGCTGGTTGGAGCCAAT
R:
CTTGAAGGCACAGTGTCCAGG
Band lengths:
347-1890
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