HsaINT0175986 @ hg19
Intron Retention
Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 [Source:HGNC Symbol;Acc:28082]
Coordinates
chr9:139972502-139973129:+
Coord C1 exon
chr9:139972502-139972706
Coord A exon
chr9:139972707-139972953
Coord C2 exon
chr9:139972954-139973129
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-UAP1L1:NM_207309:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=NA C2=0.028
Domain overlap (PFAM):
C1:
PF0170413=UDPGP=FE(17.8=100)
A:
NA
C2:
PF0170413=UDPGP=FE(15.5=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)