Special

HsaEX0068592 @ hg19

Exon Skipping

Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 [Source:HGNC Symbol;Acc:28082]
Coordinates
chr9:139971953-139973129:+
Coord C1 exon
chr9:139971953-139972273
Coord A exon
chr9:139972502-139972706
Coord C2 exon
chr9:139972954-139973129
Length
205 bp
Sequences
Splice sites
3' ss Seq
CACGGCGCCCGTACCCCCAGGTT
3' ss Score
8.15
5' ss Seq
CTGGTGTGT
5' ss Score
4.96
Exon sequences
Seq C1 exon
CGAGTGCCGACTTGACAGACGGCAGCGGCGACATGGCTTCGGAGCAGGACGTGCGCGCCCGGCTGCAGCGCGCTGGCCAGGAGCACCTCCTGCGCTTCTGGGCCGAGCTGGCGCCGGAGCCACGAGCCGCGCTGCTGGCGGAGCTGGCGCTGCTGGAGCCCGAGGCGCTGCGCGAGCACTGCCGGCGGGCGGCGGAGGCCTGCGCGCGCCCCCACGGCCCGCCGCCCGACTTGGCCGCGCGCCTGCGGCCCCTGCCCCCAGAGCGCGTGGGCAGGGCCAGCCGCAGCGACCCCGAGACACGGCGGCGCTGGGAGGAGGAAG
Seq A exon
GTTTCCGTCAGATTTCTCTGAACAAGGTGGCCGTCCTGCTGCTGGCTGGGGGGCAGGGCACTCGCCTGGGCGTGACCTACCCCAAGGGTATGTACCGTGTGGGGCTGCCCAGCCGGAAGACCCTGTACCAGCTGCAGGCGGAGCGGATTCGGCGGGTGGAGCAGCTGGCCGGTGAGCGCCACGGGACCCGCTGCACCGTCCCCTG
Seq C2 exon
GTACGTCATGACCAGCGAGTTCACTCTGGGGCCCACGGCCGAGTTCTTCAGGGAGCACAACTTCTTCCACCTGGACCCCGCCAACGTGGTCATGTTTGAGCAGCGCCTGCTGCCTGCTGTGACCTTTGATGGCAAGGTTATCCTGGAGCGGAAAGACAAAGTTGCCATGGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.536 A=0.029 C2=0.028
Domain overlap (PFAM):

C1:
PF0170413=UDPGP=PU(4.2=16.5)
A:
PF0170413=UDPGP=FE(17.8=100)
C2:
PF0170413=UDPGP=FE(15.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACCTCCTGCGCTTCTG
R:
TTGTGCTCCCTGAAGAACTCG
Band lengths:
299-504
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development