Special

HsaEX0068593 @ hg19

Exon Skipping

Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 [Source:HGNC Symbol;Acc:28082]
Coordinates
chr9:139973428-139974594:+
Coord C1 exon
chr9:139973428-139973600
Coord A exon
chr9:139973708-139973901
Coord C2 exon
chr9:139974454-139974594
Length
194 bp
Sequences
Splice sites
3' ss Seq
ATCCCTGGTCTTGGCTGCAGGTG
3' ss Score
8.44
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
Exon sequences
Seq C1 exon
ACGGCAACGGGGGCCTCTACTGCGCGCTGGAGGACCACAAGATCCTGGAGGACATGGAGCGCCGGGGAGTGGAGTTTGTGCACGTGTACTGTGTGGACAACATCCTGGTGCGGCTGGCGGACCCTGTCTTCATCGGCTTCTGTGTGTTGCAGGGCGCAGACTGTGGCGCCAAG
Seq A exon
GTGGTGGAAAAGGCATACCCCGAGGAGCCCGTGGGCGTGGTGTGCCAGGTGGACGGTGTCCCCCAGGTGGTGGAGTACAGCGAGATCAGTCCTGAGACCGCACAGCTACGTGCCTCCGACGGGAGCCTGCTGTACAATGCAGGCAACATCTGCAACCACTTCTTCACCCGAGGCTTCCTTAAGGCGGTCACCAG
Seq C2 exon
GGAGTTTGAGCCTTTGCTGAAGCCACACGTGGCTGTGAAGAAGGTCCCGTATGTGGATGAGGAGGGGAATCTGGTAAAGCCGCTAAAACCGAACGGGATAAAGATGGAGAAGTTTGTGTTTGATGTGTTCCGGTTTGCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0170413=UDPGP=FE(18.9=100)
A:
PF0170413=UDPGP=FE(21.3=100)
C2:
PF0170413=UDPGP=FE(15.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGACCACAAGATCCTGGAGG
R:
TATCCCGTTCGGTTTTAGCGG
Band lengths:
243-437
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development