HsaEX6034567 @ hg38
Exon Skipping
Gene
ENSG00000117143 | UAP1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 [Source:HGNC Symbol;Acc:HGNC:12457]
Coordinates
chr1:162590323-162599842:+
Coord C1 exon
chr1:162590323-162590511
Coord A exon
chr1:162597792-162597858
Coord C2 exon
chr1:162599271-162599842
Length
67 bp
Sequences
Splice sites
3' ss Seq
ATACTTGTTTTTTTTCTTAGCTT
3' ss Score
7.37
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
GAAGTTTGTGGTATATGAAGTATTGCGAGAAGATGAGTTTTCCCCACTAAAGAATGCTGATAGTCAGAATGGGAAAGACAACCCTACTACTGCAAGGCATGCTTTGATGTCCCTTCATCATTGCTGGGTCCTCAATGCAGGGGGCCATTTCATAGATGAAAATGGCTCTCGCCTTCCAGCAATTCCCCG
Seq A exon
CTTGAAGGATGCCAATGATGTACCAATCCAATGTGAAATCTCTCCTCTTATCTCCTATGCTGGAGAA
Seq C2 exon
GGATTAGAAAGTTATGTGGCAGATAAAGAATTCCATGCACCTCTAATCATCGATGAGAATGGAGTTCATGAGCTGGTGAAAAATGGTATTTGAACCAGATACCAAGTTTTGTTTGCCACGATAGGAATAGCTTTTATTTTTGATAGACCAACTGTGAACCTACAAGACGTCTTGGACAACTGAAGTTTAAATATCCACAGGGTTTTATTTTGCTTGTTGAACTCTTAGAGCTATTGCAAACTTCCCAAGATCCAGATGACTGAATTTCAGATAGCATTTTTATGATTCCCAACTCATTGAAGGTCTTATTTATATAATTTTTTCCAAGCCAAGGAGACCATTGGCCATCCAGGAAATTTCGTACAGCTGAAATATAGGCAGGATGTTCAACATCAGTTTACTTGCAGCTGGAAGCATTTGTTTTTGAAGTTGTACATAGTAATAATATGTCATTGTACATGTTGAAAGGTTTCTATGGTACTAAAAGTTTGTTTTATTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117143-'33-33,'33-32,39-33
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.310 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0170413=UDPGP=FE(14.7=100)
A:
PF0170413=UDPGP=PD(3.3=60.9)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCAGGGGGCCATTTCATAG
R:
TCGTGGCAAACAAAACTTGGT
Band lengths:
176-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains