HsaINT0178174 @ hg38
Intron Retention
Gene
ENSG00000183696 | UPP1
Description
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12576]
Coordinates
chr7:48101824-48103411:+
Coord C1 exon
chr7:48101824-48101982
Coord A exon
chr7:48101983-48103296
Coord C2 exon
chr7:48103297-48103411
Length
1314 bp
Sequences
Splice sites
5' ss Seq
AGTGTGAGT
5' ss Score
6.96
3' ss Seq
GTGTTTCTCCCTGGTTCCAGCAT
3' ss Score
8.12
Exon sequences
Seq C1 exon
TTTGTGTGTGTTGGTGGAAGCCCCTCCCGGATGAAAGCCTTCATCAGGTGCGTTGGTGCAGAGCTGGGCCTTGACTGCCCAGGTAGAGACTATCCCAACATCTGTGCGGGAACTGACCGCTATGCCATGTATAAAGTAGGACCGGTGCTGTCTGTCAGT
Seq A exon
GTGAGTACCTGCCTTCCCTTGTGCTCAGTCTCTAGGCTCTGCAACCCCCTGTGCCCCACCCCTCTGCACACACAGACAGCTGGTCCCCTAACACCTGCTTACTGTAAATGGCTGGGAGCAGGGTGAGCCCACAGTAGCTGGGATTCAGAGATTATTGAACTCAGGCTATCGTCCTTGAGGCTCAGTCTCCAGGGGCGACTAAGTACACAAATGCATATACACCGCTGTCTGTCTACACAGTGTGAGGGTGGCAGGTGCAGGGAGTTAGAGTGCTTGGGGTGTAGAGGAAGGACAGTAGGGGGCGCCCTGCCTGGAGCAGGATGGAAGGAGAGCCTCAAAGTACCAGGCCTCTAATCCCCTCTACCACCTCACAGTGAGTTACTTCAAAACACATTTTGATTTAGCAAGGAGCATGGTGAACACAGAAATCTCCAGATTCTACCATAGAAGTCTTTTCATTTTTCAGTTTTGATTTTGTCAGGAGCAATATAAATGAACAGCTGCAGAGTAAGGAAAGGGAACCCCTTTTGTTGAGATGTGCACCCCTACCTCTCCAGTCAGCTGAGGACACTAGCTATGTCAACCAACTAGAACATATCAGGGAGCCAAGACATGACTAGGTTACTGATAATCTGCGCAAGCCTTTCCTGTGTGTAAGGCTCCGTGACCGATTCTAGCAGGGATGCCTCCACTGTATGGCTCTGCCACAGGAACAGCCCCTGGAAAGTGCTGAGTTCATCCGGGGAGAGGCATCACAGAAGTTGTGACACTAGGGGGGGTGCTCTGAAGAGGAGAGCAGGAGAAGGAGGTATGCAGAGACCCCAAAGAGAGGAAAAGGCACAGGCAGACAAGATCAGCAAAGCATCCTGTGTCCAGTGGGCTGAGGAACCAGCTGATTACTTAGTTTGTCTGAAGCAGAGGGTGTAGGGAGAAAAGAGAAAGGAGATAAAACTTTAACCTGTGGTGGGGTGTGGGAGAATAGGGTGGGTATTTATGCAGGGCTTCAAATGCTAGAAGGAGCTGTTTGTTACCTGGCAATAGCAGACTGCTGCTTCCCTGCTGAGCCCCTGGGTCCGCAGCTGTTACCTATTTGACAAATTGTGTCGATCAAATGGGGTTTTGTCTTTGACAGCTTTGCATACACTTTAAAGTTTCCCAAAGTGTTACTAGTTCTTAAATTTATATTTAAAAAGTTTATCTTTCATCACTATGTCAATGGGCATGTTAGATTGAATTACATCACATGAAACATCAGCCAGAACATTGACAAAGTCACAACCTTGGCTTAACATGGGTGTTTCTCCCTGGTTCCAG
Seq C2 exon
CATGGTATGGGCATTCCTTCTATCTCAATCATGTTGCATGAGCTCATAAAGCTGCTGTACTATGCCCGGTGCTCCAACGTCACTATCATCCGCATTGGCACTTCTGGTGGGATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183696:ENST00000331803:6
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:
PF0104815=PNP_UDP_1=FE(20.7=100)
A:
NA
C2:
PF0104815=PNP_UDP_1=FE(15.1=100)
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:
TTGTGTGTGTTGGTGGAAGCC
R:
ATCCCACCAGAAGTGCCAATG
Band lengths:
271-1585
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