HsaEX6051492 @ hg38
Exon Skipping
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47202638-47203214:+
Coord C1 exon
chrX:47202638-47202814
Coord A exon
chrX:47202943-47203047
Coord C2 exon
chrX:47203134-47203214
Length
105 bp
Sequences
Splice sites
3' ss Seq
CTCTCCCTTCCCCTCTCCAGGCC
3' ss Score
11.56
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GAGGATGCAGCAGAACTGGTAGCCTTAGCACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATGTGGCTGCTGGGGATCTGGCACCCATAAACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAG
Seq A exon
GCCTGCTCCGGGAAGTTCATGCCCATCATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAG
Seq C2 exon
CGCCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985-'36-37,'36-36,38-37
Average complexity
S
Mappability confidence:
100%=80=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0089916=ThiF=PU(4.1=22.2)
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:
GCAGAACTGGTAGCCTTAGCA
R:
AGGAAATACTTCTGCTTGCCCA
Band lengths:
248-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains