HsaINT0175978 @ hg38
Intron Retention
Gene
ENSG00000117143 | UAP1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12457]
Coordinates
chr1:162576777-162579603:+
Coord C1 exon
chr1:162576777-162576981
Coord A exon
chr1:162576982-162579427
Coord C2 exon
chr1:162579428-162579603
Length
2446 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
ATCTGATTTTCTCTTGTAAGGTA
3' ss Score
7.48
Exon sequences
Seq C1 exon
GACTTTTCCAGATTTCTCAGAATAAAGTAGCAGTTCTTCTTCTAGCTGGTGGGCAGGGGACAAGACTCGGCGTTGCATATCCTAAGGGGATGTATGATGTTGGTTTGCCATCCCGTAAGACACTTTTTCAGATTCAAGCAGAGCGTATCCTGAAGCTACAGCAGGTTGCTGAAAAATATTATGGCAACAAATGCATTATTCCATG
Seq A exon
GTAAGATACGTCTCATTATTGGAGTGTGTCTGAACATATATTGTTTTATAATATTCAAAATGCATATATACTTTATGCACTCACAGACATATTTCTTGTTACTGTTGATTTTCTTGGGAGGTATAATTTACTATATATGTTAAAAGTGCTATATATTATTGCTTGATAGATGACCACTATTGACTTAATAAGCAATATATACTCACCGCCAACTTTTACATTCCTGACTGAGTACCTTAAAGTACTCAGTGAGCTCTCTGCATCTAGAAACTCATATTTTCAGGTACCAGGTTATTTAGCTCTCCCACACCCATGCGCCTCTTCCGCATACACACCAGGTGAAAGCTGCACTGACTTCTGTGCTATGGGCCATACTTGTGTCCTCAGCCTCTACTAGTATGCTGTATTCTCAGGTTCTCAGGGGCTCCACCTTGGTCAGTGTTAGTTCCTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTGTCTCGGTCACCCAGGCTGGAGTGCAGTAGTGCAGTCTTAGCTGACCGTCACCTTTGCCTTCTGGTCTCAAGCCATCCTCCTACCTCAGCCTCCCCAGTAGCTGGGAATACAGGCACCTGCCACCATGCCTGGCTAATTTTTTTTTCTTTTTGAGAGGGAGTCTTACTTTGTCCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCCCACTGCAACCCCTGCCTCCCGGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGCATTACAGGCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGTCAAGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCGTCTCAGCATCTCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACCCGGCTATTTTTTTTTGTTTTTTTTATAGAGACAGGGTTCTGGTCTCAAATTCCTGAGCTCAAGTGAGCTGCCCCCCTCGACCTCCCAAAATGCTGAGATTACAGGTGTGAGCCACTATGTCCAGCCAGTGTTAGTTTCCTAAGGACCAAGAGATTACAGAAGATCCTGCTCTGCTTTTTATAAGTTTTTGGTTCAGCTCTTTAGTCTCTTTCCCCGAGCAGTTTTGGAAGTTAGCATGTTTTGAGGGGAAAATCAGCTGTGTGTTTGAGGTCCCCCAAGTCCCTATCTTGTTATTTCAGTCCCATGTGATCAACAAAAGCTCTACTAGTTTCTGTCCCCGAGCAGCAGCCTTTGGTCCAAGCCATATTCACCACTAGCCTGTACCCCAAGTCAGCAGGTGCCCTCAGGACAAGGCAGCTGTATAGCCTCAGTTCCCTTTTGAAAGATTCTGTCTCTGGACTTACAATCTATTTTGCCTCTGAAGTTCTCTGATGCCTTTAAAAAACTGCTTTTTGTAATTTTCGTAGCTCTTCTAGCTCTTCTCACCACGAGTACTGGCCTGCTGTGAACTGTTTTGTTCATCTTGATGCCTGTGGGGAATTTGGAGGAACATCTGTGTTCTAAGTGGCCAACATTCTACTTACAGCCCTGGCCTCCTACTATCATGTTGAATTTTCTTCTCTCTCTTTCTTCCATCTCTTCACAACTCAATTTCTGTTCTTATGCAGAGAAGTTTAGCCACTTCTTCTGTCATCTTCTAAATATATCCAAACCTTTTGTACCTAAAGTTCAAAATATCCAGGATAATTTGTTAAACAGACAGATACCTCCTGTGGTATGAAATTATACCATTTTGTTTATTCATTTAACAAATATTAATTGAGTGTCTTTTTCTAGGTATTGAGGATAAATCAGTAACCCAAACAGGCAAAAATCCCTTCTTATATGTAGTTTACATTCTAGTAAGGGCAAAAGCTACCACAGTCACTAATTATAGTTTTAGAAATAATTTTTTTCTTTTTTGCCACACTAGCATGGGTTGGATTTTTGTGACAACAGAAAGTATAATTATACTTTTATGATTTTTAAATGGAGGGTTAGCAGAGCCCAGACTGCATTTCAGATTTCAATAAAAAGAACCCCAAGAGATCATTAAACTGTATTGCAGTTACCCTTTTCTTCCTGTTTATTCAGAATAGGCATTTCAAATTTAAAATACACTTTCACAGAGTTCTAAAATGTTTACTTAAGCCATTTTATAGGTTCTCTTGAAGGAGGTGTGTTTAGTATGTTTAATATTGTAAGTAGATTTATTTCATACGTAAGAGTTGATGAAATTACTGAAAGAAATTCCCCTTGGGTAACAGCTAATGAATGTGTCTTACCCAGGAAAAATATGAAGGAAGTCAAAATAATAAGCAAGTGCTTTCAAAGATATCTTTAGCTTAGGAAATAGACGAAACTTTATTTTGCCCTAGTCCACCTAGCACGGTTGCTTAGAAGATCTGATTTTCTCTTGTAAG
Seq C2 exon
GTATATAATGACCAGTGGCAGAACAATGGAATCTACAAAGGAGTTCTTCACCAAGCACAAGTACTTTGGTTTAAAAAAAGAGAATGTAATCTTTTTTCAGCAAGGAATGCTCCCCGCCATGAGTTTTGATGGGAAAATTATTTTGGAAGAGAAGAACAAAGTTTCTATGGCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117143:ENST00000367926:3
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:
PF0170413=UDPGP=FE(15.9=100)
A:
NA
C2:
PF0170413=UDPGP=FE(13.8=100)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains