HsaINT0069711 @ hg38
Intron Retention
Gene
ENSG00000198756 | COLGALT2
Description
collagen beta(1-O)galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16790]
Coordinates
chr1:183940581-183944323:-
Coord C1 exon
chr1:183944196-183944323
Coord A exon
chr1:183940788-183944195
Coord C2 exon
chr1:183940581-183940787
Length
3408 bp
Sequences
Splice sites
5' ss Seq
GATGTGAGT
5' ss Score
7.77
3' ss Seq
CCTCTGCCATTTCCTTACAGTTA
3' ss Score
9.61
Exon sequences
Seq C1 exon
GTAATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATTGACCAGGCTCAGCTGGACTGGGAACTGAT
Seq A exon
GTGAGTGACAAGATGATCTTACGAGAGGGCTCTGAGAGGCACTCAGTCCTTTCCAATGCGCAGAGAGCCCCACCTCCACAGCCAGTAGGAGATACAGCTTAAGCTTCCACTTATCTAGTTTTCTTTCCATAAATGTTCTCAGAAATAAAAATGGGTAGAGGTTAGCCACTGGATTTTGCATCCTTCTACTCTTCAGGGTGGGAAACTGTGGAAGATTGTCTGAGACCTGGAGTCGGCCTGCAGATCAGGGACCTTCAGACAGAACCAAGGTGTGGCACTGAGCACTTACTTAGGAGCACAGCAGAAATCCCACCCTCAATTAACGTGGCACATGGAGTGGGTGTGAAGCTGGAGAAGAGGCCATTTATTCAAGCTCTAAAGTCCTGTGTCATATTTAAGACTCAGCTCCCGGGACAGCAGGTTGCCTCTGCAGCTTCCGAGAAGGTGGGAGGTTAGAGGGTCAGCCAGGGAGCTCCTCTGTTGGGAAATGGGGCTGCACAAACATGAAGAACATGGACAACTAGATTTGGGGAAGGGTCTGAGGCTGATGCAGGAAAACCAGGCTCACCAAGGGAGTGCTGGCTCTGAGCTGACATTTAGTTAATGTTCTTTGTCTACTCTCTGGGAATTGAGTGGCTTCTGCTTTTTTCTTCCCTTCCCTTTCATTTTTCCTTCCCTTCCCTTTCATTTTTCCTCTCCCTCTCTCCCTTCCTCTTTCCTTTTTCTTCTTCCTCCTCTGCCTCCTCCTTTCTCTCTCTCATTTTCTTTTTAAAACAAATGACACTTTCAATTTCTCTCCAATGAAGCAGAAAGTTCCCAAGCATTGTGTTTGCTCCCAGCTGTGTGTCAAAGGCAATTCATCAACTCTGAGCCTGCTTCTTTGGAGCAGCTGCAGCAGAGGAGCTGTCCCTGCTTCTCCCACCCACAGGCGGTATTTAACTGTGGGCCCAGGTGGAATACTTGTTCCCTCAGAAAATGGGCCACTCTGAGCTCAGAAGAAACCTAGCAATGGCTCAACTAATGCGTCACTGTGTAATAAGACACCTATGCCCTGTCAGATTTCAGTCATGTGGTCATGTGGTTTGGTTTGGCATTCTGCACAGTCCCTTGAGATCACTGTTTCTTCCTATATCCTCCAGAAGTCGCTGCACTTCAGCCTTTCTCAATGGATGGCTCCGCAGCCTGTGGTTAAGGCCTCACAGGCCTGGAAGCTACTTGATGTCCACGTGACTTGTATAAAGGCAACTTCACTTAAGCCTCATAATCACAGAAGACTGAGCCCAGAGAATCTAAGGTTTAGAGCTGGCATACGTTCCCGTTCACATGTAGTTCGGTGGGTGCATTTCTCAGGACAAAGTACCGACAGATGCAAGAAGGAAGAACAGTTGTCTTGATAAGGATACAGGAAAAAAATGTTTTCTAAATTTCACAGGTTGATCAAGTCAAAATATCCCCTTAAAATCTATTATATAGTCTTAAAGAACTGTAACAGTTTTAAATTGTACCTGTTATTTTCTAAAACAAAAAAGAAACAAATGTTACTTAAACCTAAAACATGAAAGGTAATAAGCTGTTCATGATTGCCACATTACATCTTTCCAGGAAAAGAAAATAATAAAAGGGAAGAATAGAACAAGTCATTGGAATCATTGAGGGAGTGTTGTTCAATAGAAATATAATGCAAGCCACATATGTCATTTTCAGTTTTCTAGTAATCACATTAAAAAGGTAAAAATAAATTAGACTAAATTAGTTTTAATACATTTTATTTAACAAAAATATCCAAACAGTATCATCATTTTGGTATGTAATTAATATTTTAAAACCATTAATGACATAGTTTACCTTCTTTTTTTTTTTGTACCAACTCTTCAAAATCTGGTATGTATTTTACACTTAGAACACCTCTCAATCCAGAAGCTAAATTTTCAGCTGTTTAAGTAAACTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCACGTCTCTAGTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTGGCATGAACCCAGGAGGCGGAGCTTACAGTGAGCTCAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCATAAAAAAAAAAAAAAAGTAAACTGTCGTCCTACCAAAACAATGAACTTGTTTCATGGAAAAAATATATATATTTCACACAGCTTCAACATTTAAAATTAAATTAATTAAAGTTAGAGCATTAACTCAGCACCTCTATCACTCTAGTTCCTCTCAAGTGCTCGATAAGAGTTTCCCTTCCACTGGATGAGACACGAGAGAAGCTCAGACTCCGTAATCTGAAGAGAGAGTGGCTGGGGATATATGTTTGTTGTTCTCAGAAGAACTGAAGATTGAACATAGACTTGTTCTACAAATCCTGGGATGCTTTCACAAGGGGGAATCCCTTGAATGTTGAAAGAGATTGTTTTAGGGCAAAATAGAGGAAGTACTGCTTTACCTGGCAGGCAAGAAGGAGGCAACTCCTCAGGTTGCTCCAGTCAAGCCCAAATCAATAGGTTCCGGACAAAAGTAATGGAGCACAGATCCATGGGTAGACTAGGGAAGATGGGAGTGGCCAAAGGTGCATCCTGTGTTGTAGAAGTTGTTCACGGAGGACGGAAGGTGCCTGGGGGGCCTTTCTCAGAGCAGCATGTCTGGGAGGAAGCCTGGCCACAGCTGGACGAGTGTGAGGCAGGAGAATGCCTGTCAGGAGCTGTCATTCATCCTCCCCAAAAGGAACCCCTTAGGGCCACTCTTGGGTTCCCAGAACCTTCACTGCAGACTGACTCTTTCCCCCAGCTTATTTGGTCCTGTGTTTCCCACCAGCACTCGGAGTGCTGTGCAGAAGGCATCCAAGGCTGACACTCTGGGGACCTGAAGACAGCAGCCTCAGGATTCTCCCATCTGGCCTTTTTTTGTGCCTTTCCAACCTCTGTAAACACAGCTGGAAGCCCCATCCCATCTTTAAGAAATGATCTGAAAGATCTTTTAATCTTACGACATCTTACTTTCCGTCTTGAAAACCGTCCACTAGGCAGGAATAGTGGGGGTGTTGATAAATGGAGCTAGCAAAATGGCCCCAGTGATGGCAGATGGCAGTCCTGACTGGCGATTGGATCCACTTTTGGATGTGATACATCATTTAATGACAGACAGAGTCAGTCCAGGATTTCAGAGGTATCTATGTAAACCAAAGCTGTGCTTCATCCTTATCATGGCATAATAGTCAAGGTGGAATTTTTCTCCTCTGCCATTTCCTTACAG
Seq C2 exon
TTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198756:ENST00000361927:10
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=0.000
Domain overlap (PFAM):
C1:
PF0175512=Glyco_transf_25=FE(22.6=100)
A:
NA
C2:
PF0175512=Glyco_transf_25=PD(32.3=85.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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