HsaINT0175999 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47205948-47206444:+
Coord C1 exon
chrX:47205948-47206113
Coord A exon
chrX:47206114-47206247
Coord C2 exon
chrX:47206248-47206444
Length
134 bp
Sequences
Splice sites
5' ss Seq
CCCGTGAGT
5' ss Score
8.4
3' ss Seq
TCGCTTTGTGCTCCCCACAGGCA
3' ss Score
10.34
Exon sequences
Seq C1 exon
AAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATGAATCCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATCTATGATGACGATTTTTTCCAAAACCTAGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCCC
Seq A exon
GTGAGTTTGGAGGCGGGTGAGGTGGTCACGGGCAAAGTTGTGTGTGTTTCGGTGTGTATATACCAAGAGGGGTGTCCGTCTTTCTGTCCTCTCCTGATGTTTCTTTCCTAGCTCTCGCTTTGTGCTCCCCACAG
Seq C2 exon
GCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGCACACTGGGCACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGACCCACCTGAGAAGTCCATCCCCATCTGTACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.161 A=NA C2=0.015
Domain overlap (PFAM):
C1:
PF0089916=ThiF=FE(37.9=100)
A:
NA
C2:
PF0089916=ThiF=PD(20.7=45.5),PF105854=UBA_e1_thiolCys=PU(73.3=50.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTGTGCGCCAAATGAATC
R:
CGACTCTGTCAGGAAGGGGAT
Band lengths:
251-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains