HsaEX6051481 @ hg38
Exon Skipping
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47212990-47214428:+
Coord C1 exon
chrX:47212990-47213076
Coord A exon
chrX:47213113-47213181
Coord C2 exon
chrX:47214327-47214428
Length
69 bp
Sequences
Splice sites
3' ss Seq
GACAGCTTGACTCCTACAAGAAT
3' ss Score
-0.79
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
AGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCGTGGTTGGCCTTGTGTGTCTGGAGCTGTACAAG
Seq A exon
AATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCACGTCACCAG
Seq C2 exon
TACTATAACCAAGAGTGGACATTGTGGGATCGCTTTGAGGTACAAGGGCTGCAGCCTAATGGTGAGGAGATGACCCTCAAACAGTTCCTCGACTATTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985-'64-67,'64-66,65-67
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0213416=UBACT=PD(47.8=51.6),PF093585=UBA_e1_C=PU(18.2=37.5)
A:
PF0213416=UBACT=PD(47.8=51.6),PF093585=UBA_e1_C=PU(18.2=37.5)
C2:
PF093585=UBA_e1_C=FE(25.0=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:
AGCTGATTGCAGGGAAGATCA
R:
CGAGGAACTGTTTGAGGGTCA
Band lengths:
174-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains