HsaINT0178177 @ hg38
Intron Retention
Gene
ENSG00000183696 | UPP1
Description
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12576]
Coordinates
chr7:48107361-48108733:+
Coord C1 exon
chr7:48107361-48107507
Coord A exon
chr7:48107508-48108217
Coord C2 exon
chr7:48108218-48108733
Length
710 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
3' ss Seq
GTGGTCTTTGTCCTTTGCAGCGG
3' ss Score
10.81
Exon sequences
Seq C1 exon
GGCAAGGCCGTCTGGATGGGGCTCTCTGCTCCTACACGGAGAAGGACAAGCAGGCGTATCTGGAGGCAGCCTATGCAGCCGGCGTCCGCAATATCGAGATGGAGTCCTCGGTGTTTGCCGCCATGTGCAGCGCCTGCGGCCTCCAAG
Seq A exon
GTAAGCGGCACTTGATGGGCCTCGGCGTCCCCTCCTCCCTTCACTTCTGCTCTCCTGGAGCCCCTCGCTGGGGCCCCTCCTCCTGGGGCACCCCGATACCCATTTCTGGTTTCTGTTTCCGCTGCCCCCAAGTCACTTTCTGACATATGTGTTGTCACCACAATGCTGTTCAATGTCTGACTGTCACACCCTGACAAAATGCAGGATTCTCAGTGACCTTGTGCAGGAAAAATGACAAAAAAGCTTTTGCTGCCCCATGAGGCTGCCACCAGGTCTATAAAAAACTCGGCTTTCAAAGCGCTTTGGCTTTCTGAATTGTGGTTCATCTACCCTCAAGGTACTAGCCACCCTTGAAGGCCAGCTCACAGCTCTGCAGAATTCCCTTATCACCTCGGCCAAAACGTGCCTTTCAAGGTGGTGCTTGCAGCCCTGAGCTGGTCCTGGAATGGTGAATTCCTTTTGGAAGCAGGCACGAGAATAAGGGAGGGACAGGGCAGGGTGGTGTCAGAGAGGGAGGAGTCTTCCGAGCCCCTGGACCAGCGCCTTTCCCTCCCGCACTCCATCCTCCGGCCCCGCCTGACTGCATGGGCAGCCTGGTTTCCTGAGGAGGCAGAGAGGCTGCTCCTCAGAGCTCGTGGGTTCTTCATCCCGTCCCTGTGAAATGTTAGACCCCCGGCACCTTGCCTTGATGTGGTCTTTGTCCTTTGCAG
Seq C2 exon
CGGCCGTGGTGTGTGTCACCCTCCTGAACCGCCTGGAAGGGGACCAGATCAGCAGCCCTCGCAATGTGCTCAGCGAGTACCAGCAGAGGCCGCAGCGGCTGGTGAGCTACTTCATCAAGAAGAAACTGAGCAAGGCCTGAGCGCTGCCCTGCACCTCCGCAGACCTGCTGTGATGACTTGCCATTAAAAGCATTGTCCAAAATCCCCTGTTGTGTGGACTTTGAGCACACTTTACACAAGAATCTAGAAAATCAGATCGCGATTAAGAGACAGAGAATCTTGGATTAACCGCATGGGAGATGTTCTTCCTTTTGAAGTTTCATTGGAGCATTTTCAATGATGTTAGCCTGATTTGGGGTTTCTTCAAGAACATTCTACCAAATTTTTGTACTATTTCTAGGGAAATTTTTCAGACTTTAAAATTCTAATGGTAGTCAGATTTCATGTCACTAAACAAGAAATCTGACAATAGTGCCAGGAAACTAATTTCCTGATACATTAAAAAAATTCCATGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183696:ENST00000331803:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.022
Domain overlap (PFAM):
C1:
PF0104815=PNP_UDP_1=FE(19.5=100)
A:
NA
C2:
PF0104815=PNP_UDP_1=PD(15.5=83.0)
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:
GATGGAGTCCTCGGTGTTTGC
R:
GAAGAACATCTCCCATGCGGT
Band lengths:
358-1068
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains