HsaEX6051500 @ hg38
Exon Skipping
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47198528-47199106:+
Coord C1 exon
chrX:47198528-47198628
Coord A exon
chrX:47198803-47198919
Coord C2 exon
chrX:47199048-47199106
Length
117 bp
Sequences
Splice sites
3' ss Seq
CTGACCTTTTTTTCCTCCAGATG
3' ss Score
12.39
5' ss Seq
AACGTGAGT
5' ss Score
9.54
Exon sequences
Seq C1 exon
ATTGGAGTCTCTCCCTCATTATGCTGGGCTGGGAAGAAGCAAATGGCTTAGTGGTCAGCAGTGTGGATTTGCAAATCAGACCACCTGGGTTCAGATCTTAG
Seq A exon
ATGTCCAGCTCGCCGCTGTCCAAGAAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGTTCTAACTGCTCCCCTGCCCAGTCCGTGTTGTCCGAAGTGCCCTCGGTGCCAACCAAC
Seq C2 exon
GGAATGGCCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTCCCGGCAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985-'10-20,'10-19,12-20
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.985 C2=0.480
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTCTCCCTCATTATGCTGGG
R:
AGCTGCCGGGAGTAAAGG
Band lengths:
154-271
Functional annotations
There are 1 annotated functions for this event
PMID: 7673335
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: Two dimensional phosphopeptide mapping, alanine scanning, comigration in gel electrophoresis, mutation analysis, protein kinase assay. ELM ID: ELMI003216; ELM sequence: MSSSPLSK; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains