HsaINT0176003 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47210842-47211225:+
Coord C1 exon
chrX:47210842-47210916
Coord A exon
chrX:47210917-47211035
Coord C2 exon
chrX:47211036-47211225
Length
119 bp
Sequences
Splice sites
5' ss Seq
AATGTAAGT
5' ss Score
8.62
3' ss Seq
CCTGCCCTGCCTTCTCCTAGCCC
3' ss Score
8.52
Exon sequences
Seq C1 exon
CTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAAT
Seq A exon
GTAAGTCTCCTTTCTAGGGTCTTCTGGGGTCAGGTGGAGGGTGAATAGGTGGGAAGGAGGTGGCGGCTCCCCACTCGAGGGCTGATGTGCTCACCCTTCCCTGCCCTGCCTTCTCCTAG
Seq C2 exon
CCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.093 A=NA C2=0.076
Domain overlap (PFAM):
C1:
PF0213416=UBACT=PU(7.4=20.0)
A:
NA
C2:
PF0213416=UBACT=PD(89.7=95.3)
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:
GTTCTGGTCTGGGCCCAAAC
R:
AACAGAGGCATTGGCGCTC
Band lengths:
244-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains