HsaINT0175997 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47203134-47203696:+
Coord C1 exon
chrX:47203134-47203214
Coord A exon
chrX:47203215-47203540
Coord C2 exon
chrX:47203541-47203696
Length
326 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
TCTTCTTGGTTGCTTCTTAGGTG
3' ss Score
8.85
Exon sequences
Seq C1 exon
CGCCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTG
Seq A exon
GTAAGTGGTCCCCTTGGATGTCTGCTCCCCTCATCTTGGCCTCTGGCCATCACCCCTGGGGCTTCCTTCGGCATCTCAATGCAACCGGTGGCGCATTCTCTTTGCCATTCTCCTTATCTTGAAGGGAAGCCCAGTGCATCCCTCGTTTCCCCTTCTGGTGCCTCCTTCCTCACATGACTGCGTGTCATTTCTTAGAGTCCTGCAACCTGAAGATGTGGTGTTAGCCCCTCTCCCCGTCTCTCAGGGGAGTGAGGGGTGATGGGTAGCTTCACACTAACCTGCATCACCCTGACCAGCCTCTGCCTGTCTTCTTGGTTGCTTCTTAG
Seq C2 exon
GTGGGTGCGGGGGCCATTGGCTGTGAGCTGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGGGAGGGTGGAGAAATCATCGTTACAGACATGGACACCATTGAGAAGTCAAATCTGAATCGACAGTTTCTTTTCCGGCCCTGGGATGTCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:13
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:
PF0089916=ThiF=PU(4.1=22.2)
A:
NA
C2:
PF0089916=ThiF=FE(35.2=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:
CGTTATGACGGGCAAGTGGC
R:
ATCCCAGGGCCGGAAAAGAAA
Band lengths:
222-548
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains