HsaINT0176014 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47200894-47201366:+
Coord C1 exon
chrX:47200894-47201000
Coord A exon
chrX:47201001-47201275
Coord C2 exon
chrX:47201276-47201366
Length
275 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
CCTATTGCTTCCCTCTACAGGCA
3' ss Score
10.48
Exon sequences
Seq C1 exon
GTGGTGGTGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTGGGTGAGTTCTGTCACAACCGTGGCATCAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGG
Seq A exon
GTGAGTGGCAGCCCACCTCCCTCCCTGTCCCCTTTTCCCCCAACTCCTACCAAGCCCAGGCCAAGACTCTAGGCTCTCCCTGCCCTCATCCCTTCTCAGCTACCCAGGTTTTGGGTTCTGTGTTTTCATCTCTCCCCATGTGGCACAAGTACCATCTTACATCCCAGCAGTGATAGGCTGAGTTTGCTCAGCAAGTTTTCACTACATCTTGAGGGACCCGTGGGACCTGTATGTGCATGGGACACAGGCACCAGCCCTATTGCTTCCCTCTACAG
Seq C2 exon
GCAGCTCTTCTGTGACTTTGGAGAGGAAATGATCCTCACAGATTCCAATGGGGAGCAGCCACTCAGTGCTATGGTTTCTATGGTTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:6
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=0.074
Domain overlap (PFAM):
C1:
PF0089916=ThiF=FE(26.5=100)
A:
NA
C2:
PF0089916=ThiF=PD(4.5=19.4)
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:
GTGCTCACCAACACCCCC
R:
TGGTAACCATAGAAACCATAGCACTG
Band lengths:
190-465
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains