HsaINT1045823 @ hg38
Intron Retention
Gene
ENSG00000117143 | UAP1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12457]
Coordinates
chr1:162587475-162588833:+
Coord C1 exon
chr1:162587475-162587668
Coord A exon
chr1:162587669-162588692
Coord C2 exon
chr1:162588693-162588833
Length
1024 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGG
5' ss Score
4.99
3' ss Seq
TTTCTCCTCCTGCTTCTTAGTGT
3' ss Score
8.71
Exon sequences
Seq C1 exon
GTGGTAGAGAAAACGAACCCTACAGAACCAGTTGGAGTGGTTTGCCGAGTGGATGGAGTTTACCAGGTGGTAGAATATAGTGAGATTTCCCTGGCAACAGCTCAAAAACGAAGCTCAGACGGACGACTGCTGTTCAATGCGGGGAACATTGCCAACCATTTCTTCACTGTACCATTTCTGAGAGATGTTGTCAA
Seq A exon
GTATGGGCAAGATGGGGGCCTTTTAAAATTATATTTATTGTTAATCAGAAACTAAGACACTTGAGAGGGATGCAGACACCCCAAGTCCATATCCCACAGAATTCATCTTTCCTGAGGATCACTTATCAAATGGACATTTATCTCATGTTGTGATTGTTTTTAGTAAGATGTATTGTAAGGTGGGAATCATCGGAGCCCATTCCCCAGCGCATTAATGGGAGGCCAAAGCATTTCTCCCTTCTCACCCTCCCACCCCCAACTATGTGCTAGGTTCTGTTGAAGCAAAGCATAAGAAATGAAACTTTCTTTACCACAGCTGTGAGCTTTTTAAAAATACAGATGTTCACCTTACACCAACTGAATTAGAATTTCAGGAGGTGGGTTCGGGGCATCTATATTTTTAGAAAGCTGCCCACAAAGTTCTAATTCAGCTGATTCCCAGGCTGGCATTTAGAAACTAGTGTGCTAAAGAGTGAAGAAATTACTTGACACCTGCATGAAAATTAGCGGGTAGTGCTACAAAGGATAAAATAAGAGCTATTTTATCCCACCATAGTTTTAAATGAAGGACATTCTCACTATCGATTTCACTTAGCTTTTAGACATTCAAGATGACTTGTCTACTTTTTAAAAAGTTAATATGCATTACTTTAGAATATCAACTCCAGTTCCAAAATATTTCCCATTCTATGCCATTTGTAGCTGTGTTACTGTTTCATCCATAGTAACTTAATGCGTTTTTTAATGTACATATATACAGTTTTAAGGCATTTGTAATGAATACAGTTTTAATGCACACGTACACAGTTTTAGTGGAGACTGTTATTTGATTTTTTTTTAAATATAAAGAGATGATTGGGGGAAAGCTATTCATTTACTATTTAAATATGAACTGAAACTTAAATGCTCTTCACTTTGAAAATCTTAGTATTGGTTGTTGACACATTTGCTCCTGAATGTTGTAAGATTTTCTGGCATTTTAAATCTGGAACGTGATTATATCTTTTCTCCTCCTGCTTCTTAG
Seq C2 exon
TGTTTATGAACCTCAGTTGCAGCACCATGTGGCTCAAAAGAAGATTCCTTATGTGGATACCCAAGGACAGTTAATTAAGCCAGACAAACCCAATGGAATAAAGATGGAAAAATTTGTCTTTGACATCTTCCAGTTTGCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117143:ENST00000367926:6
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=0.021
Domain overlap (PFAM):
C1:
PF0170413=UDPGP=FE(14.9=100)
A:
NA
C2:
PF0170413=UDPGP=FE(11.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGTAGAGAAAACGAACCCT
R:
TTGCAAACTGGAAGATGTCAAAGAC
Band lengths:
334-1358
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains