HsaINT0073150 @ hg38
Intron Retention
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:144141882-144145739:-
Coord C1 exon
chr2:144145572-144145739
Coord A exon
chr2:144142056-144145571
Coord C2 exon
chr2:144141882-144142055
Length
3516 bp
Sequences
Splice sites
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
3' ss Seq
TTTGTCTTTTACCTTTACAGCCT
3' ss Score
10.68
Exon sequences
Seq C1 exon
GACCCTCTTTGCAAGTTCAGTGCTTAACCTGACCGAACTGGCTGCCCTTCGGCCTGACCTTGGGAAACTGAAAAAGATTCTGTATTTTCACGAGAACCAGTTGATATATCCTGTCAAGAAATGTCAGGAGAGGGATTTCCAATATGGATACAACCAAATTCTTTCATG
Seq A exon
GTAGGTATGGATTGTATCATTATATTTGGCCCTTTGCTACCTTTTTCTTTGTAGGTGGTTACGTTTTAAATCTGGAGACCTACTATTGTACACCTTTTTTTAAAACACCATAAGGTAGGTGCAAATATTTAAACAATTCTTCCTTCTGCAGTATATGTAAGATCACAACTAATCATTTTATAAAAATACATATATGTAACAATCTAATTATATGTTGAGCTAATTATCTATTTTTCACAACATTCAAAATAGAATTAAAAGGTTGGCAGGGACCTTCACCCCTTGATTTCATGATCTATTGCTTAAGGCATTTAGAAAGTGCAGTTAGTCAACTCTTACTTATTAATCACGATCACTGTATTCAGCTAAAATCAAAATAGAGTTTTACAGAGAAGTAAAAATTAAAGCATAATGGAGCAACTTGGGGTTTTGTCTCCCCCGCCTTTTTTTTTTTTTTTTTTTTAAATTGTAAGACAGAGAAGACTATGGACAATGAATCCTTAGGTAGTGTTTTCTTTTTTCCTTCGTTGAGTCTTCTGAAATGGCACAGCCTTAAAATACCATGACATTTTAAAGGTGATGGTCCTCTATTGTTACTTCGACAAAGTGTATCTCCTGAAGCTTAGTTAATGAAAGAAGTTAATAACAATTCTGAAATGGCTTTGCTATTGGATCCTATTCACATAACTGCAACAGTCAAACGGAATCTGTTTGTCAGTGATTTTGTACATTTTATTTATCTTTATTAACAGCTATTAGCAACTGGGTTTGATGATGTATTTGAACAGACCCGCAATTCTTGCAAGAATGTTTCATAGTTTAGTTGACATAGAAAAATGGCTATATAGTAATAATTCTGTGTTGTGTGCATTTTGTGAATGTTTTCCTACAATCATTTTTACAAGCTGCTTCAATTGTGAAGTAGCAGTGCTATCAAAATAGAGTGCAACTGCTTCACGTCAAATGTCTCATAAAAAAAGCAGCCGTTTTAAAATTTCATAATAAAATTAAAATACTTTATATTGAAACAGAGAAGGAAAATATGTTTTAAAAATGAAAATAAAATCATTTTGTGCTTTATCAATATGGAAAACATTTGTAATATTCTTTTGATTTCTTGAATTAGCATCATTCTTTTCCTCAGATAGTGTGTTTATTACCCCTGAGAAATCATTGGGAAAAAAACTAAGTCTATTTTTTCCTTTATGGGTGGCTTTAAAGTTAATGGAAGTTACATCCACTCATATCAGGGAGGAAATGTACCAAAAAGGATATTTCTGTAAACTATCTTGGATCTTTAATTTAGCATAGACTGGATTTTTAAGAATGTAAGTCATTGGGTCACATGCCGTTTGAGGGAAGCTATCTAAAAACAATTCAGCTCTCGATTCCTCCTCACTTTCATAAAACATTGTTTTTGCTGATAGGGAATGAGACTATAAAAGTTTTGTACATGATTTTTCAGCATTGCTTTTCTCAAGAGGGTAAACTTATAGACAAGCTTGGAGAGAGAGAAGTGTACTTCATCATCAGTTGGCTTCTTAATGGGGAAAAAATGGTTCACAGTTGTCCAGAGGAAAAATAAGAGTGTCAAAAGGCAGTCCTGTTCAGATTCTCTTTGAAAAGTATGACTCCTGCTTCCTCAAATGTTTCTTTAGTTTTCTTGCTGACTTCTGCTTTTTTTGGCACTGTCAGATTTCTTTCTGGACTGTGTGGCAGTTAAGGACTTTAAAGATGACTGACATAAGCACTCACCTTAAACAGTGATTTCACTAACCCTCTGACTTATGAACACATGTCACAACTATATATTATGACCTGTAGGTCACTATTACAATATGTGACATATGGTGAAAACAAGACTAGCTGTAAAACATCCTTCAACTTTTGGTATATTATTATATTAGCTTCCTTATTGCTTAGTGTTGTGTCAGCACTTCTGTGACATTCCTTTGTATTGTTCGTGTTGTAATCACCCACACCCCCCAAATTTGCACTAGGTAGCAACTAATAAACAATACTTGTATAGAAAATCAGTTTTTTTCAAGGGATGCACGGAAGTAGCAGGCCAACACTCTTTTTGTTCATTTTTTATTCTGCTAGATATTAACATTGTAATAGTAAATTTGGCTGTCTCAGCAAATATGACTTAAACTAAACTGACGTTTGGCTACGGCATTCCTATTCTATAAGCTCTACTTATTCTGTGGTGTTCTGCAGTCCTGTGGACATAACATGTCTTCTTTCCAGTAGTATTGATCTATCATTTTTAGGGTGGAATAAAACCAATTGCTTTATCCCTTTAATCTTGTATACAGATGTTCCTCAACTTACGATAGGATTACAGCCTGGTAAACCCATTATTGTGAGTTGAGAATATGATAAGTTGAAATGCATTTAATACAACTAACCTATCAGACATCATAGCTTAGCCTAACCTACCTTCAACATATTCAGAATACTTACATTAGCCTACAGTTGGGCAAAATCATCTGGCAGCACAGGCCACTGTAGAGTATTGGTTGTTTACCCTTGTGATCATGTGGCTGACTGAGATTTGTGCCTCACTGCTGCTGCCTAGCATCGTGAGAGAATATTGTGCACATACCATTAGCCCAGGAAAAGATCAAAATTCAGTATTCGAAGTATGGTTTCAATTGAATATATATTACATTTTCACCATTGTGAAATTTAAAAAATCTTAAGTTTGAACCATTGTTGTTGCGGACTGGTATTACCACATTTATTTCATTGAATTCGAAGATCATGGTGTTGCGGCGCTTTATAATTTATATGTACCTTTATGTAATCAGTTAGGACCTAGTGATCTGGATTTCCGGATGCATTTCTACCAGTTTCTTCTATTTCTCTGGCTAGCCCAATATAATATAATATGATAGTGAAACAAGTTATTTTGGGATACCATAATCCTTTCTGTGTAGTCCCAGAACTTTTAAAAACTTAACACAGTTTCTTGAAGTAAAAGCTACAGCAAGAAGTAGACTTTAACCAAATAGTGCCGAAGGTATCGTGCCTTAGTATGAAAGTAGTTTTATCTGAATTAGTCTTCTTGAAGTTAGTGAGAAGTGTGACAGATGCTCTGTTCTCGGTAGTATGGTGTAAAATGATGCACATCACTGACAGAAATTCAACATGGGTAGCTGGGCCACGAAGAAAAAGGAATTGCTGTACGTAGTGTTGTTGATAATATAGAAAGTTCCTGGCATTGTGGAAAAATATGCTTTGGTTTGGAGTCTCATGCGATCCCATTAAATCATTCTATTTCCCTGTTGCCTTTCAAATCTGATGCCACCAATCAACTCCCTGTGATATAACACTAATGAAACCAACTTAGCTCTTAGAGACATTTTGGTAGATACTGATATGAAGTGAAGAGTTCTTTGCAAACCTAAGGTGTAGTATAAACTCTGATTAATCCATAGAGGTCTTAGGTTGATAAAAATTACTCTGAATGAGTCTGGGCTCATCATTTGCATTTGTCTTTTACCTTTACAG
Seq C2 exon
CCTGGTGGCTGATGTGGTTGTATTCAACTCAGTTTTTAATATGGAATCATTTCTCACTTCCATGGGAAAATTTATGAAGCTGATTCCTGATCACAGACCCAAGGATCTGGAAAGCATCATCAGACCCAAGTGCCAAGTTATTTACTTTCCCATCAGGTTTCCTGATGTGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964:ENST00000392869:4
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:
PF120383=DUF3524=FE(33.5=100)
A:
NA
C2:
PF120383=DUF3524=PD(30.5=86.4),PF0053415=Glycos_transf_1=PU(0.6=1.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
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