HsaEX0068598 @ hg38
Exon Skipping
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47199048-47199614:+
Coord C1 exon
chrX:47199048-47199106
Coord A exon
chrX:47199209-47199377
Coord C2 exon
chrX:47199480-47199614
Length
169 bp
Sequences
Splice sites
3' ss Seq
AGTACCCCCTAACCTGGCAGGTA
3' ss Score
6.63
5' ss Seq
CAGGTACCT
5' ss Score
8.16
Exon sequences
Seq C1 exon
GGAATGGCCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTCCCGGCAGCT
Seq A exon
GTATGTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAGAACATCATCCTTGGTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCAG
Seq C2 exon
TTCTACCTGCGGGAGGAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGCTATGTGCCTGTCACTGCCTACACTGGACCCCTCGTTGAGGACTTCCTTAGTGGTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.480 A=0.000 C2=0.045
Domain overlap (PFAM):
C1:
NO
A:
PF0089916=ThiF=PU(33.3=77.2)
C2:
PF0089916=ThiF=PD(48.3=95.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGAACGGCAGTGAAGCAGA
R:
CTGGAAACCACTAAGGAAGTCC
Band lengths:
186-355
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