HsaEX6051485 @ hg19
Exon Skipping
Gene
ENSG00000130985 | UBA1
Description
ubiquitin-like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:12469]
Coordinates
chrX:47069327-47070624:+
Coord C1 exon
chrX:47069327-47069522
Coord A exon
chrX:47070241-47070315
Coord C2 exon
chrX:47070435-47070624
Length
75 bp
Sequences
Splice sites
3' ss Seq
AAAATCTCTCCATCCCTTAGCTC
3' ss Score
6.26
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
AGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAG
Seq A exon
CTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAAT
Seq C2 exon
CCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985-'32-42,'32-41,34-42=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.112 C2=0.078
Domain overlap (PFAM):
C1:
NO
A:
PF0213416=UBACT=PU(7.4=20.0)
C2:
PF0213416=UBACT=PD(89.7=95.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCACAACTTCCCTCCTGAC
R:
GATCTTGACGCCAGACTTGGG
Band lengths:
171-246
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)