Special

HsaINT0069717 @ hg38

Intron Retention

Gene
ENSG00000198756 | COLGALT2
Description
collagen beta(1-O)galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16790]
Coordinates
chr1:183954762-183964020:-
Coord C1 exon
chr1:183963901-183964020
Coord A exon
chr1:183954839-183963900
Coord C2 exon
chr1:183954762-183954838
Length
9062 bp
Sequences
Splice sites
5' ss Seq
TGAGTGAGT
5' ss Score
6.51
3' ss Seq
ATGTTTCTTGTGTCTTCCAGTTG
3' ss Score
10.53
Exon sequences
Seq C1 exon
GCATCCAGATGTACCTCTGCAACAGAGAGCACTATGGCTACCTGCCCATCCCCCTGAAGCCCCATCAGACACTGCAGGAAGACATCGAGAACCTCATCCATGTGCAGATTGAAGCAATGA
Seq A exon
GTGAGTGACCCAGGAGCAGAGGGGATGGCTCTCGTTCCATTGCCACAGTGACCATACCAGCCACTTCCCTCCTCTTCCAGGATTGGAATCTCACAGCCATCAGTCTCCCCTGGCTGAATACATAGCTATTTATTTGTTCATTCTTTCCTAAATTTTTCCTATGGGAAATATGAATATGACAAGGTCTTTGCCATGTGGGAGCTTCCCATCCTGGAAGAGCGCTGGGTACACAAGTAAATACTTTCCAAAAGATCTGATAAGTGCTATAATAGTGTTTTGTGGTGTGGACTTAAACCCTAACTTGGCTGCTTTCTAATTATATGACTTTGAGCAAGTAATATCCTTAGTTGTAAAATGGAAATAATGAAAACTTCCAGGGTTTTTGGGCAGATTCATTATGGTATATGTAAAAAGGCTAATACAGCCACAGTAGTTATGACTTTAACTTAATAATAGCTCATGATGTAACAGATATCACTGTTACATCATAAAATGCTAAGCACTTTTTGTACATTAAAGTGTACAAAACTGTTTCATTGTTGTTTCATTAATCCTTGCAACAATTCAATGAAGGGTTTTTATTATGCCCATATTAAAGATGAAAAACAATGAGATGTTACCTTAAGTAACTTGCCCTAGATCATTCTGCTAAACAAATGACAGATTGGGATTTGAACCCATCTTGCTATCTCCAAAGTTCATGTCCTTAAACACTATTGTTATTGCCTCTGGGTCTGGCATGATGCATGAATTGCTGTGCTCAGTCATCAGTAGCTATGCTTTTTATTATGTGTGATGTACAATGGTGGCTAAAAGAGAAAGTAACCAATCCACCTAACCTAGGGGAAGATGTTGAAATGGCTTCCCAAAGCAGGGACTATTTTCTGTTATTCATCAGTAGAGCACGGGGGTGTGAACGTGGGCAGTGGAGGTGGTTAGGGAGGAACAGCAGAAACTGAGGCTAGAAAGTGGGCAGGAGCCCCGCCAAGAGGCTCTGATGTATAAGAAGGCATTTGGGCTTCAGCTGAAAGGACAGGCACGCTCAAAAAGATTTTAGCACAGAAATGTCAGGTTGAATTTGGATTTAGAAAGGTCACTCTACAGGTAAGAAAAGTGTAGGTGGAGCATGCATGGGATGCATGGGCAGTGGCTGCTGGTCTCAGGCCAGGGGTGAAGAGACCACTTTGGACATTTCACGGCTACTGGGCAAAAGGTGGTGAGGACCTGAGCTAGAGCAGTAACAGTGGGAATGGAGAGGAAGGAACAGAAGCTTAGGACATAGGCTTGAAAGGACATAGCCAAGAGTTGATTGTAGGTAGATGAGCAAAAGGGAGGCATAGAGAAAACTCCCAAGTTCTGTCTTGAGTGTCTGGGGGTGATTTTAGGAACTTTAAATGGAATAGGGCATGTAGCATAAAGGAGAGGTTTGAAAAGAGAGACCATGGCTGGCATGGTGGCTCATGGCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCTGTCTCTACTAAAAATACAAAAATAAGCTGGGCATGGTAGTGCACATCTGTAGTCCCAGTTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGAGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAAAAGAAAAGAAAAGAAAACAGAGACCATGAGTTTATTTTTAGATCCATTGAGTTGTCTATGAGTATCTGCTTCCCACTCCCTTGCTCCTACACTATAAATTCCTTTTTCATCATATTAGTCTCAGGACCTAGCACATTGTCTGTCACGTGGTAGATGCCCAGCAAATATTTGTTAAATGACTGAATGAATGATGATGAAATGATGAAATAAGGAGCTGGTTCACTGTGACAGTATTTCTTGAACCAGCCCTCAGGAATCTCCTTTGCGAATTTCTTTAATACATACTTTTTCTGCCACTTTCCCTATGTTCTAGGCCCTAAAGGATATGGGTGGCATCTTATTGCTTTGTATTCCAAGCACCTAGCACAGTGCGTGGCATGTAGTTGTTACCAAAAAAAATCTGCTGAATGCATGAACAAATGAGCAAATGAATGAATGAAAACTGTATTGACAAGGGCACTGAACCCAAAGCGAGAATAATGGGCTTGAACTTAGACACTGTCGCTTTTGAAGGGAGAATCAGATTTCAGGACTTCAGTTTCTTCATCTATAGAGTGATTTTGCAATGTTGAGAAGAGCAAATAAAAGACTATATCAACTCCATAAAATAATGAGGTGTTGCTATTATTATGACTCCATTTACCTCTCGATAAAGTGCTGTCCCTTATTATCCCTGTTTCATGGCTCTCGGTCTCGACTCCCAAGTAGGGAGAGTCTCTCTGGCCTCAGAGAGAGGCCAGCCAGACCTTATGTTCTCTTGTTTTCTCCCACAGGGCTGAGAGTATAAGCTCTCAGTACACAGAAATGCACGTGTCATCAATAAAGATTTTAATGATTGTAAATTACAAATATGCACACTACCATGCTAGCCAGGTAGAGTTCATTTGAGAAGAACCTGTAAATTATAGCTTTCATCATTGATCTCCCAACACATGCCACCTCTAGTGCTAAGCACTTTACATATCGCATTTTATTTCATTCTTATACTTACCTTCTGTCCTGAATTCTAAAAATATAGAACACAATAGGAGTAAGAAAATGTTGGAAAAATAAAATTTTGAGGTGTATAATGAAGAAATATGGCCTAGAAGTCCGTGTAAGATTGATAAAAAGTTGGTAATGACAAAATCCTATCAGTCAAGTATCCTTCTCTAATAAAAGATTAACTAGGTGTTAAAAACACTTTGCATAGTGCCTAGAACCCAATAAGCAGTAAATAAATGGCTGCTAATAGTGTTGTTAGACTATACTGATTGAAGAATAGGAACGGGGTGTCCAATATTTTGACTTCCCTGGGCCACACTGGAAGAAGAAAGATTGTCTTGGGCCACACATAAAATATACTAACACAACAATAGCTGATGAGCTAAAAAAAAAATCACAAAAAGAATCACATAGCGTTTTAAGAAAGTTTACAAATTTGTATTGGGTCACATTCAGAGCAATCCTGGGCCACATGTGGCCTGCGGGCCATGGTTGAACAAGCTTGCATTAGTATATGCATTTTGTTCATGAGCAAACATAGAATGCCTGTAATGTATGCGTCTTCTCTGAAGGTACTAGGGATTCAAAACATTTTATGATCAATTCTCTGTTTTCAGGTATGTATGATTTAATAGGAGAAACAGACAGATGTTAAAAAAACACTAACAACACAGTATAGCATTTTGAGAAAGGAGAAAATATCAAAGAAATAGGAATTTGGGATAGAGAGAGATTGCTATGGCCTGTGTGATCCAGGAGAGCCTCAAGTCCTAATCGTTCTTAGGCTAAGCTTGGGTACAAGTGTAAAATTTAAACAAGAAGAGTGGTATGGTGAGGACACTACAGGCAGAGGAAACAGACCAAGAAAAGACGAAGTATTCTCATGCTGAAGGAGAGCTGACTTAAAACAGTAGGCAGAAATAAAGTTCGAGAGGGTGGAGTGGCTTCATTGTTGTAGTCCTTGAATTCTTCTTCAGCTAAAGAAGAATTCCTATCTTAAGGAGCCAATGAAGGTGTTAGAAGAGATAATCAGGCTGTAAGGATTTATTCAACACATACTGTACCCCGCAGATTGTTCAAGATGCTGGGCATAAAGCAGTGAACAAAACAGGCAGAAGCCCTGCCATCAGGGAACTTATATTCTAACACAGAGAGTTAGACAATAGACAATATATCTGGGAAGCAGCCATATGAATATTTGGGTGAAGAATGTCTCAAGTGGAAAGAACAGCACATGTAAAGACTGTTAGACAGGAAAAGCTTGGGGGTGTTCCAGGGACAAAAGGCCAGCATGATTGGGGCATAAAGAATGAGTTGGGTCAAGGGAGATGAAGTAATGGAAGAAGAAATGTCCAGATCACACCGAACATTCTGGCCATGGTAAGGAATTTAGATTTTACTCCAAGAGTAATGGGAATCCGTGGAAGATGGGGTGGGGCAGAGGGGGCATGGCCTGAAGTGACTTGTGCATTTAGAAGGATCATTTGGGCTGTGGTGAGGATACTAGATTGTAGGGGACCAGTACCTCTCTCCTGGTGGGACATGATGGTGATTGGGATGTGAGCTCTAGCAAGGAGTTGATGAGAAACAGACAGGTTGAGGATATATTTTGGTGGTGGAGCAACAGGACTTACAGAGACCTGAATGCAGTCCATGAAGGAAAGAAAGGAATCAAGATGAGTCCAAGATTTTAGCCTGATATGCCATTTACTGAGATGGGAAAGACTTTATAGAAAAAGACTGGGGGTTGGGGAGCTAGTTTTGGTCACGTAAGTTTAAGATATTTAATAGGCATCTAAATAGAAAGGCAGAAGATAGTTGGATATATAAGTCTGGAGTTCAGGGAAGAAACTCCAGCTAGAGACAGATATTTGAGAATCATCAGCATCAGAAGGATATTTGAAGCTGTGGAACAGTCTGAACTCATGTAGTAAAAGAACACAGGATGAGAAGAGGACAGATCCCTGGGGAAGACAAAACAGCCAGAGAGCTAGGAGGAAAAATTGAGAAGTGTTTCAAGACGGAGCCAAGATGCTGCTGAGAAGCCAAGGAAAATAAGGATAAAGAATTGGTCATTGGTTCTGTCAAGAGAGAGGTCTGTGATGACCTTGACATGGGCCACTTCAGTGCAATGATGAGAACACAAATCCATTCAAGTGGACTGAAGAGAAGCCAATGGGGAGATGAGAAAGCTGAATCTTGATGGGATGGGGAAATGGAGAAATCCGATGGAGGCTGTTGGGGGTAAGAGGTCAAGGGAAAGGTTTTTCTGGTTAGGTTGTTTGTACTGTTTTTTTAAAAAAATAGAAATATAACAGTATGTTTTATGCCAGTCACAAGGATCCAGTATATAAGGAGATCTTGATGATGTAAAAGAGAAGGTAATTATAAGGTGAAAACAAGAGGGTTTTTGTCCTGGGTTGCAGCCCAGAACAATATTGCAGAGGCTATACTAGATAGAAACTTCATCTACTGTGGCAGATGGGATGGCAGAATGTATTGATACACATGCAGTTTGGTTTGTGGACTTGAGGTGGATTGAAAAGGTAGATCTAATTTGATTTTGAATATTTTCTTTCTGAAGTATATAGGCCAGTCAGTCATGAGCTAGACAGAGATTTTGGAGATTTTAGGAGAGAGAAGACAAAAGATACAATCTCTCAAAGAGTGGGAAAATAAATTTACTATGAAAGGACACTTACATCATTTGGTGGTGTCAAGTGCCAATTTGACATCTGTGATTGTAGCTTTGAAGTGACTCAGTCAACACAATTGTGTATGTTTCTCCCAGTAGTCCTCTTGGTGCTGAGTAAGTGGGCAATGGGTTTAACCAGGATTAGGGTTTTATCAGGCATCAGTGGACGAGAATTGAAAATCTTGTGAAGGGGATGGTCAGGGAATTTCTGAATTGTAGACTGGAGTTTTAGAAATCAGAGTTGAAGAATTTGAGTGAGGTGGGAGAAGGGTTATGACGACAATGACTAACACTTATTAAAAGCACTGTGCCCATCTCTTTTCATGTGATAACTCATTTAGTACATTAGAAGCTGCACAGAGAATTTGGGGATGTGCTGCCTTCGGGAGATGAATGACAGGAGGCCAGATCTTATAAAGATGTTAGATTTAAATGGTCTATAAAGCATGAGGAGATTACTCTTGCAAATTACAGCATAAGGTGATAGGAAGTCTCAGGTACCTGCTCTCAGTATTGACATTTTGAGACAACAGTACATCATGTAAAAATTATTAAGATAATTGGACTTGAAGTTATGTCTAAAACTGAGTTCCAGCTCTGCCAATCACTCAGTATTTGACCTTGGACAAGTCTACATCTGGCTTGGTCTCAGTTTCTTTATTTGTAAAAAAAAAAAAAAAAAAAAAACCACCACAAAAAAGTGAAGATAAAATTACATGGTGACTATGAAAACACCTAGCAACCTGTTAAGCCCTTAAATATAGTGTTGAGTGTGACTGTTACAGTTGAGAACAGAGCTGTGCGGCGGAAGATTATTTTGACAACAGTGAGCATGATTAATTAGAATAGGAAAGACTGAGAGCATGTAAGTGTTTGAAAAAAATCAAAAACAGCCCAGGCATAGTGGGTAAGGACCCAAGCTAGGCTGCAACAATGGAAGAAGTTCAGGAGAAATTATAGAGAAGAAGCGGTAGGATTTGATCCAAGTACAATCTATCATGTACTATTCCAGACATGACTGGGCTTAAATGAGCTACTCTGGACCCAGCCCAGTTGCCTGGTTGGCTAATACCAGTGGCCACCAAGGACTAGCTCTGGGGATGATGTGGAATGGGAATTAAGAGCTCCGGTAAAGGAGTAGGACCTAGGTTCAAATACCAGCTCTATCAGCTCTGTGATCTTGGGCAAGTTATTTAATGTTTGTTTCCTTGTCTATAAAAATAGAGACACTCATACATATCCCATGGTACATGTGAACATTAAATATATGTGATTATATATGTCAAGTATATATGTGACATATATATATATCACTCACAGAACTCTGGGTTCTGTGAGTGATAAGACCTCTGTAACAATGGCTGTAATTATTCACATTAGATCTTGAAACTATCCCGAAAGCAATGAAGCCCATTGTCCCAAGTGGCAGTACAGGGAAGGATTATTTCCAGGAAGGGATTTAATGAGAGACCAGATCAATTATGAAAGATGGAGTCAGAAATGACTACAAACAGAAGCCAGGATATACCTAACCTTCAAGTCTGTTGTCAGCAAAGATACATCCTTCTCCCCACAGACTAAGTTTCTTAGGTCTGACTCACTGTATCACTTCCTGTTTTCCTCTGTGGCTTACTGCTGCCTTCAGTGGCAAAACCCAAGCACACTTCTCTGATATTTTTGCTCAGTGATGACTTTCGGGAGCCAACCACTTGTGGCTTTTTTTTTGCAACACTTGTCCTGTGAATGCAATGACTGCCTATGTTTGATGGAAACAAAGTGGCTAAAAGCAGTCTCTTTGGCTGAAATGTTAAAGCCACACAGGCCATGTGAGTCCAAAGGAGACCAGCAGCCTAGAATGGGTAACTCAAAATATAACATCTTCCCAAGTCTCAGGCCCCAGGAGGGAGAGTGAGACAGCTCCTCAGACAATATCATGAACAGGAGGAAGCTGGTACATTAAGCTTCTTTCTCTTAAAAACCTAACCGTGTACCTGGTGGACCCTCCCTATTGATTTTAAAAGAAACTAATAAGGAGTGGAGTGGAGCAGAAAGGACCAGAATATTCTCGGCTGCTATTGGGAAGACAAAGACATGCACTGCATATGCACAGAAATATGACTGTAAGTGTCAAGTTTGAAGTAATGAGACCAGCTCTTGTGTTTGGCCTAAGAACTCTGTCTCACTACGTTCTAGAATTTCACATCATTCGCCAATAAGTAAAATTGGATGTCAGGATTTCTCTATAATATTTCAGTGAAGTTAAACAGATCATACCCTTTGGACAGTATCTCAGGATGGGCAAAGTTATGCTGGAATATAAAAATCTGATTGGCTTCATACAACAATGGCTTATTTCTTGCTATCCAAGTCTGCAGAGCAGGTGTCTTTCCTGGGAGCTGCCCTTCATGTGTTGATGCAATGTTCCAGGCTGCTTCCAATTCACATCTGCTATCCATATCCACACATGCCGCTATGAGCACAGTGGTGGGACCAAGGGCAGTGTCGGGGGAGCCCTTGGAGAGTGGAGCAGCAGCACCACACTATAAACTTTCCCCAGAAAGTCATATAGCCCTGAGTAACTTCAAGGGCAAGAGAGTGTATTCCTCTCCTGTGCCTGGAATAGAGGTGAACAGATACGTTACAGTAGTCATGGCCATTACCCATAGTTCTTTCAACAACCCAGTTACCAGCTATCATTTTAAATTTTCTTTGTATTATCCCTTTAAGGAAAATCAAATGAGGACTTTGAATTTGTATAATACTAAACATTCTTCGAGGACTTTGAATTTTTATAATACTAAACATTCTTCAAGGCCTTTTCAGGTTTCTTAACCAATATTACTTCCAAACTTTAAAATACATAGTTTGCAAAGGAAGCTTTTTTAGAGTATCAAATAAATAAAACTTTCATTATTGAAGAAGTAGTGTCACTCCCAGCTGGAATCTTCCCATTAGACATGGGCCAGCTCTCTGTGGTTAGATCCTGTTAAAGCAATGGACCTTTTGCGCACCCACACCTAAACCTGCCCAGGTGGGATAAAAATAGTCCCCCACTTTGACAATTTTAAATGCAGAGAAAAAAGTGTTTTTCAGTAAAAATTCTAGCCTATTTCTGAGCTCTTTCATCATGGGCCATAGTAAGTAATAGCTAAGAGTTGTTGAGCATTTACTGTGTTAAAGTGGTGAGTGCTTTGCACGCAGGTCTCATTTAAATTTTATAACACAGATACACTTCTATTATCCCAATTTTACACCAAAGAAATGAGCTTAAAGAGGTCCCCTAACTCTCCTACTCCTTCGCAAACCAAGGTTTGGACCCAGATCATCCGACTCTGGAGCCCTTCCTCTTAACCATTATCCTAAACTGCCTCCCAAATATTCTTGAAATAAGTCTTAAGGGAAGTGGAGCAAATGTTGCAATCTCCATATAATCAAATGCTCCTGAAACCAGTGCCCTGACCAGCAGGGTTCCTGTGTGGCTACTCAATCCTGGAGAACTGCTGCCATTGTCCCCTGCCCTGTATTTCCAAGTTATATTCCAACCCTAGAGATCAGGCATGCGGATGGAATTCTGATTTCTGACCCTTTCATTAACAAAGCACTCTGCATGTTTCTTGTGTCTTCCAG
Seq C2 exon
TTGACCGTCCTCCAATGGAACCCTCCCAGTATGTCTCAGTTGTCCCTAAATATCCAGACAAGATGGGATTTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198756:ENST00000361927:6
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=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0175512=Glyco_transf_25=PU(1.1=7.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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