HsaINT0175990 @ hg38
Intron Retention
Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Source:HGNC Symbol;Acc:HGNC:28082]
Coordinates
chr9:137080002-137080874:+
Coord C1 exon
chr9:137080002-137080142
Coord A exon
chr9:137080143-137080688
Coord C2 exon
chr9:137080689-137080874
Length
546 bp
Sequences
Splice sites
5' ss Seq
TAAGTTAGT
5' ss Score
0.88
3' ss Seq
ACTAGCCCTTTCCCCACCAGGAA
3' ss Score
9.26
Exon sequences
Seq C1 exon
GGAGTTTGAGCCTTTGCTGAAGCCACACGTGGCTGTGAAGAAGGTCCCGTATGTGGATGAGGAGGGGAATCTGGTAAAGCCGCTAAAACCGAACGGGATAAAGATGGAGAAGTTTGTGTTTGATGTGTTCCGGTTTGCTAA
Seq A exon
GTTAGTAGTAGAACTCATTTATTTTCCCCTTCTTCCTTCTCTCAGTTTTGGTGGTGGGAACTGAGGCGCAGCTGGTAGGGAAGTAGAGGCTTGAGGGAGCCAAGGGCCCCGCGGGCAAGTCTCAGGGAGAAGACCAGAGGGTGCTCTTGGCCCTGAGGGTAAGCAGCCCCTGAGGTGGGGGCATAGGGAGTCCTTGGGGCTGTGGACTTGGGAGGACAGTAGTGCCACCTCCCGGACCTTCCACTGCCCCCACCCATGGTTAGGAGAGGTCTCCTGGCCAGGTTGCCAGGGCGGCTCGCAGGGCCTTTGGCCCTCACTGCAGGGGTCCCAGGGTTGGGCCTTCGGCTGCTGGAAATGGCTGCTGGGATTGGGCCATCCCTGGCGTCTCAGGAGCAAAAACACTCAGTACCTGCGGGGGCTCCTCCCTAGACTTGCTGCCCATGGGACCAGACCTTCACTCTGTCACTGGAAACCTGGCCCAGCTCTCACCTGCCCGGATCAGGGCCTCTGTGCTGGGACGTGGGTGACTAGCCCTTTCCCCACCAG
Seq C2 exon
GAACTTTGCTGCCTTGGAAGTGCTGCGGGAGGAGGAATTTTCCCCACTGAAGAACGCAGAGCCAGCCGACAGGGACAGTCCCCGCACCGCTCGCCAGGCCCTGCTCACCCAGCACTACCGGTGGGCTCTGCGGGCCGGGGCCCGCTTCCTGGATGCCCATGGGGCCTGGCTCCCAGAGCTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355:ENST00000409858:6
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=0.286
Domain overlap (PFAM):
C1:
PF0170413=UDPGP=FE(15.6=100)
A:
NA
C2:
PF0170413=UDPGP=FE(20.6=100)
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:
CCTTTGCTGAAGCCACACGT
R:
CCCCATGGGCATCCAGGAAG
Band lengths:
295-841
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains