HsaINT0176001 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47209623-47210123:+
Coord C1 exon
chrX:47209623-47209687
Coord A exon
chrX:47209688-47209927
Coord C2 exon
chrX:47209928-47210123
Length
240 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
TCCTCTTCGATTCCTGATAGAGA
3' ss Score
5.93
Exon sequences
Seq C1 exon
TGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCAGAAAATGTCAACCAGTACCTCAC
Seq A exon
GTGAGTAACTCGAGTGCCCTCTCGCCCTGTCCCTGTCCACCAGCCAAGGCATCCCGGCTGCTTTCCTCATGACAGTAACACTTGGCACCAGGCACACTTTTCACATGAATGAGTGGCTGTTGGGGCCTCATGTTGTTTGGGGTCGGGACTAGTTTTCCATGGAGAAAGTAAGATTGCTCTGGAGCCCACTCTTGAGGCTGACATGTAATCCTATCCTCTGTCCTCTTCGATTCCTGATAG
Seq C2 exon
AGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:17
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF105854=UBA_e1_thiolCys=PD(22.2=45.5)
A:
NA
C2:
NO
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:
CGGGATGAGTTTGAAGGCCTC
R:
GTCAGGAGGGAAGTTGTGCAG
Band lengths:
252-492
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains