HsaINT0176006 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47212424-47212863:+
Coord C1 exon
chrX:47212424-47212512
Coord A exon
chrX:47212513-47212770
Coord C2 exon
chrX:47212771-47212863
Length
258 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGG
5' ss Score
9.26
3' ss Seq
ACCCTCCCCACTCATAACAGGAT
3' ss Score
8.34
Exon sequences
Seq C1 exon
ATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAG
Seq A exon
GTATGGGGTGGGGCTCAGGACAGGGAAGGAGGATGGGCAAAGCATAGACAGGCTGGAGAAAACAGGAGTATCTGGAGCCAGCCCCGGGCCTTTGTGGGGATCAGATTGTGGGCCTGCCATATGGCTCTGAATGAGTAGGTGTTCCCAGCCATCCCTTTGTGATCTGGGAGAGTCCAGCAGGCAATTGCAGTGGAGGATACACATCTTCTTTATCTGATCCTCTCCCCACTGCCTTCACACCCTCCCCACTCATAACAG
Seq C2 exon
GATGATGACAGCAACTTTCATATGGATTTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGGCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.189 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0213416=UBACT=PU(4.3=10.0)
A:
NA
C2:
PF0213416=UBACT=FE(43.5=100)
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:
TGACAGTCGTCTAGAGGAGCT
R:
TTGTGCCGGTCTGCAGAAG
Band lengths:
180-438
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains