HsaEX6051483 @ hg19
Exon Skipping
Gene
ENSG00000130985 | UBA1
Description
ubiquitin-like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:12469]
Coordinates
chrX:47070435-47072262:+
Coord C1 exon
chrX:47070435-47070624
Coord A exon
chrX:47071823-47071911
Coord C2 exon
chrX:47072170-47072262
Length
89 bp
Sequences
Splice sites
3' ss Seq
GTGTCCCTTTCTTCATGCAGATG
3' ss Score
10.88
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
CCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTG
Seq A exon
ATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAG
Seq C2 exon
GATGATGACAGCAACTTTCATATGGATTTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGGCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985-'36-44,'36-43,37-44=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.078 A=0.200 C2=0.000
Domain overlap (PFAM):
C1:
PF0213416=UBACT=PD(89.7=95.3)
A:
PF0213416=UBACT=PU(4.3=10.0)
C2:
PF0213416=UBACT=FE(43.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGCAGGTCCCCGAATTC
R:
CCGGTCTGCAGAAGGAATGTC
Band lengths:
174-263
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)