Special

HsaINT0069713 @ hg38

Intron Retention

Gene
ENSG00000198756 | COLGALT2
Description
collagen beta(1-O)galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16790]
Coordinates
chr1:183975097-183978520:-
Coord C1 exon
chr1:183978410-183978520
Coord A exon
chr1:183975215-183978409
Coord C2 exon
chr1:183975097-183975214
Length
3195 bp
Sequences
Splice sites
5' ss Seq
AGAGTGAGT
5' ss Score
7.36
3' ss Seq
AGCTATTATTATTATTTTAGGTC
3' ss Score
7.36
Exon sequences
Seq C1 exon
GGCAGCCACTGATCACAATGTGGATAATACAACAGAAATATTCAGGGAGTGGTTGAAAAATGTACAGAGACTCTATCACTATGTGGAGTGGAGGCCTATGGATGAACCAGA
Seq A exon
GTGAGTAGCAAGTGCGAAATTTGTAAACTCATTATTTACCCTTCCTCTTTAACTAGCTCTTTAGGGCTTCCAGGTTTGGAGGTACATGTGACTTTTCATTGTCTTTCATTTCTGTAGCTATGTGAGTTCTGAATATCTGCCATTTCTCCCTTTTAGAGATCTTCACAGTACTCTCTTGCTGTTTACTCCCACAGCTGCCAGCCAAGTTCAGATTTTCATTACTTCATAAATAAATTGCCATGACAGTTTATATTTTTAAATATTGATATTATTTATTCATATTTTAAACAAACTTTTATATTTGGAGGATCATATTGAAAATGTGTATACTTTCTACATAGAGCTTGCTTTTTTCAACTTTTATCTTGATAATCATTCTATAGCAATAGTTAAGGAGCTAATTTTCATTTTTTTTACTGCATAATCACTGTTGTATGTGCATTTACCATAATTATTTAATTGATCCCCTACTGATGCTCATTTAGGTAATTTCCTATCTTAACCATAGAAATTCCTTCTTTCTTTCTTTTCCTTCTTTTCTTTCTTTTCTTTTCTTCGCTTCTCTTCTCTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCCTTCTTTCTTTCAAGACAGGGTCTCACTCTGTCACCCCAGCTGGAGTACAGTGGCATGACCATAGCTCCACTGTAACCTCGTACTCCTGGGTTCAGGCAATACTCCTCACTCAACCTCCTGAGTAGCTAAGACCACAGCCATGCACCACTATGCCTGGCTAATTTTATTTTTATTTTTTGTAGAGACATGATCTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCTTTGTGCCTGGTTACCATAACAATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTATGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTATTTTTTTGTATTTTGAGTAGAGAGGGGATTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCCTGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCCGGCCACCATAGCAATTTATTAATTGCTTCTATCTCCAAGTCATCCTACATACCATACAGTCAAATCAATCTACCTCAAATACAAATGAAATGGTTTCATTTCTTTATTAAAAATACTTCACTTACTCTTTAGGACCTGAACAAAGTTCAAACACCTAAGACTTATATTTTTAAAATTCCATGAATTTAGCACCAAAAGAAAATGTGCTTTATCCAGAACGTTTCTTTTATTTCCAAACCCCACACTGTTGCTTGTGCAGGTCCTGGAAGACCCTTTCCTTCTTTATAACTAATTCTTATCCTAAATCATGCCTACTATAGAAACCTATTCTTAATCACTCAGTTATAAATATCTACCTTTGTCTCAACAATTGTATTGCTTATATTCTATGTCATCCTTTTTGGCACAATGATATACGCAACCAACATTTTCCCCCTATGCAATTAATGTATTTTTTTTCTAAATAAGTTGTAAGTTCTTTGGCAGGGGCTAGAATATATAAACACTTTATATTCCCCCTCTCCCCTCAGAGCCATGTTCTTGGCAGGCACTAAATTAATACTGGTTGGATGAACAAATAAGAACAAGAATAAATGTATTTAAAACTTACTATTATAAATGTTCCCAAAGCTACTACAGTTTTACTTTAAGGAACTGTAGAAATAGAATGAAGGAGTTGCCTGAATTTCTTCCCCAGAGAAGTCATTTATTGAAAGCCAAATTTGTATTATAGTAATAATAAATGCCATTCCAGAACAAGTTTCTGTTCTTCTAGTCTTTCTATATGTAAGAATTATTATAAATATTTATATTATAAAGAAATATATATAAATATGATATAATATATACATATGTGTTTCTCAAATCCAAGCCCATGGACTGTATATCAAGCAAAATTTAACAGTGAAGTCTGAACACCGTAAAAGATTGTAAACACTCCTTTAGAGTGCCTTATAATGGAGTTTGGCCTAACAAAAATGGCACAGAAATACTTTGTGTCCCTTCTTTGCACCTTGGTAATGTTCTCTGCAGCCAGGTTTTGACTAAATATATTATATGCCAAGGTCAGTGTGAAAAAATATTAGAACAGGCATTTTTGGGGGGAATATATTTAGAAAAATGAGAATTCCACTGATTTTCATTGAAACAATAACTGGGGAAGATATTCCAGAGAATTCCTGTGCTGTACATAGTTTTATTAACCTTATTTGTTTAGTTACAGTCTCATTGTTTTTGCAGTTTTTCACTCACTAAAACAAATGTACTGCCAGTGCAGCTATGAGATCTTGAAGTGGTGGCCAGTTTTGGGTTACTGCAACAGTATCAATGTCCGTGCCAGCTGGGTGCCTTCAGAAGGGTTTTGGAGCGTGCTCCAACCCACTTGCCTATGTGGCCATGAAGGAGTCTTGGCCTGGCTGTTTTGTGAATCTTGATAGAGATCCCACGACCTCACTTTACCTAAGATAGATCAATGTGTTAGGCTGTGTGGAATCATTTGTGGAGACTCCAACAAGTAGATTAAACCTTTGATTTTCCTGGGAAACTCATGTTTTACACTGCATACTCTCCAAATCTATTCGATGTCGGGATGTATAAAAATTGTCTAGGAACATGAGCTTTTTGCTTGGATTCAAATCTTGATTGTGCCCCATTGTGTAACATTGGACGAATGACTTAACTGCTCTACCCTGATATCCTCACCTGTGAAATGCAGAGAATAGCAGTACTCACCTCAAAGGGCTCTCATTAGAACCCACTGAAATATTTCATGTAAAGATTCTTGTATACAATGAGCAGTGAGTTACTTGACTTCTCATTGCTCCGGTTTCCTCATCTGTAATATGGGGATGATGATAACAATAATAATAGTATCTACTTCCTGGGATTGATAGAAGATTAAATGAATACATATAAACATTTAGGACAGAGCCTGGTACATGTAGGCACTCAATAATGATGAGCTATTATTATTATTTTAG
Seq C2 exon
GTCTTACCCTGATGAAATTGGACCAAAGCACTGGCCAACCTCCCGGTTTGCCCATGTGATGAAACTACGACAGGCAGCCCTTCGAACTGCGAGGGAAAAATGGTCAGACTACATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198756:ENST00000361927:2
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=0.081
Domain overlap (PFAM):

C1:
PF137041=Glyco_tranf_2_4=FE(30.6=100)
A:
NA
C2:
PF137041=Glyco_tranf_2_4=FE(32.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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