Special

HsaINT0175986 @ hg38

Intron Retention

Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Source:HGNC Symbol;Acc:HGNC:28082]
Coordinates
chr9:137078050-137078677:+
Coord C1 exon
chr9:137078050-137078254
Coord A exon
chr9:137078255-137078501
Coord C2 exon
chr9:137078502-137078677
Length
247 bp
Sequences
Splice sites
5' ss Seq
CTGGTGTGT
5' ss Score
4.96
3' ss Seq
TCACCGCGCCTCCCTTGCAGGTA
3' ss Score
11.57
Exon sequences
Seq C1 exon
GTTTCCGTCAGATTTCTCTGAACAAGGTGGCCGTCCTGCTGCTGGCTGGGGGGCAGGGCACTCGCCTGGGCGTGACCTACCCCAAGGGTATGTACCGTGTGGGGCTGCCCAGCCGGAAGACCCTGTACCAGCTGCAGGCGGAGCGGATTCGGCGGGTGGAGCAGCTGGCCGGTGAGCGCCACGGGACCCGCTGCACCGTCCCCTG
Seq A exon
GTGTGTCCTGCCTGCCCTACCTCGGCCCGGAGGTACCCTTCCCCACGCCCCCCCACATCCCCGCTCCAGACGCGAGCCCCAACCCCGGCACAGACCGGGACATTGCCCAGAACCGGCCCAAAATGGGGCCTGGCCCCAGCCCCAACTGGACACTGGACCCCGAACCCCGATGCCGGCTCTGGTCCGAGCCCCGTCTGCCTGCAGGGCCAGGCGTACTCGCGGCCGGCTCACCGCGCCTCCCTTGCAG
Seq C2 exon
GTACGTCATGACCAGCGAGTTCACTCTGGGGCCCACGGCCGAGTTCTTCAGGGAGCACAACTTCTTCCACCTGGACCCCGCCAACGTGGTCATGTTTGAGCAGCGCCTGCTGCCTGCTGTGACCTTTGATGGCAAGGTTATCCTGGAGCGGAAAGACAAAGTTGCCATGGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355:ENST00000409858:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.029 A=NA C2=0.076
Domain overlap (PFAM):

C1:
PF0170413=UDPGP=FE(17.8=100)
A:
NA
C2:
PF0170413=UDPGP=FE(15.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCTCTGAACAAGGTGGCCG
R:
CTCAAACATGACCACGTTGGC
Band lengths:
293-540
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