HsaEX6063962 @ hg19
Exon Skipping
Gene
ENSG00000130560 | UBAC1
Description
UBA domain containing 1 [Source:HGNC Symbol;Acc:30221]
Coordinates
chr9:138836874-138838217:-
Coord C1 exon
chr9:138838115-138838217
Coord A exon
chr9:138837735-138837843
Coord C2 exon
chr9:138836874-138837096
Length
109 bp
Sequences
Splice sites
3' ss Seq
GCCCTGTCGTCTCCCTGCAGCAA
3' ss Score
10.95
5' ss Seq
CCAGTGCGT
5' ss Score
5.65
Exon sequences
Seq C1 exon
TTCCAGACAGAACTCCGGAAGATACTGGTGTCTCTCATCGAGGTGGCGCAGAAGCTGTTAGCGCTGAACCCAGATGCAGTGGAATTGTTTAAGAAGGCGAATG
Seq A exon
CAATGCTGGACGAGGACGAGGATGAGCGTGTGGACGAGGCTGCCCTGCGGCAGCTCACGGAGATGGGCTTTCCGGAGAACAGAGCCACCAAGGCCCTTCAGCTGAACCA
Seq C2 exon
CATGTCGGTGCCTCAGGCCATGGAGTGGCTAATTGAACACGCAGAAGACCCGACCATAGACACGCCTCTTCCTGGCCAAGCTCCCCCAGAGGCCGAGGGGGCCACAGCAGCTGCCTCCGAGGCTGCCGCGGGAGCCAGCGCCACCGATGAGGAGGCCAGAGATGAGCTGACGGAAATCTTCAAGAAGATCCGGAGGAAAAGGGAGTTTCGGGCTGATGCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130560-'8-12,'8-10,9-12=AN
Average complexity
A_S
Mappability confidence:
89%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.086 A=0.851 C2=0.700
Domain overlap (PFAM):
C1:
NO
A:
PF0062726=UBA=PU(70.3=70.3)
C2:
PF0062726=UBA=PD(27.0=13.3),PF0062726=UBA=PU(8.1=4.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGTCTCTCATCGAGGTGG
R:
TCATCTCTGGCCTCCTCATCG
Band lengths:
243-352
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)