HsaINT0175978 @ hg19
Intron Retention
Gene
ENSG00000117143 | UAP1
Description
UDP-N-acteylglucosamine pyrophosphorylase 1 [Source:HGNC Symbol;Acc:12457]
Coordinates
chr1:162546567-162549393:+
Coord C1 exon
chr1:162546567-162546771
Coord A exon
chr1:162546772-162549217
Coord C2 exon
chr1:162549218-162549393
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-UAP1:NM_003115:3
Average complexity
IR-S
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
Other Skipping Isoforms:
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
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)