HsaINT0176012 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47199209-47199614:+
Coord C1 exon
chrX:47199209-47199377
Coord A exon
chrX:47199378-47199479
Coord C2 exon
chrX:47199480-47199614
Length
102 bp
Sequences
Splice sites
5' ss Seq
CAGGTACCT
5' ss Score
8.16
3' ss Seq
CCTACTGCACACCCTTACAGTTC
3' ss Score
6.03
Exon sequences
Seq C1 exon
GTATGTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAGAACATCATCCTTGGTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCAG
Seq A exon
GTACCTCTTCCTAGCACCCTTCCCCCTTTCCCCCTTCCCGAGGCACCACTGTTCCCGGTGCCACAGCCATTTCATCTTTTTCCCTACTGCACACCCTTACAG
Seq C2 exon
TTCTACCTGCGGGAGGAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGCTATGTGCCTGTCACTGCCTACACTGGACCCCTCGTTGAGGACTTCCTTAGTGGTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.045
Domain overlap (PFAM):
C1:
PF0089916=ThiF=PU(33.3=77.2)
A:
NA
C2:
PF0089916=ThiF=PD(48.3=95.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAATGAAGCGGCTCCAGACAT
R:
TCCAGTGTAGGCAGTGACAGG
Band lengths:
251-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains