HsaINT0176007 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47212771-47213181:+
Coord C1 exon
chrX:47212771-47212863
Coord A exon
chrX:47212864-47212989
Coord C2 exon
chrX:47212990-47213181
Length
126 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
TTGTCCCTTCTGTCTCTCAGAGC
3' ss Score
9.97
Exon sequences
Seq C1 exon
GATGATGACAGCAACTTTCATATGGATTTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGGCACAAG
Seq A exon
GTGAGGGGAATCTAAATCTGATGTTCCACCCTCCTCCAGGTTTGAGTTACCCACACTTAGCCCCTCTGTAGACCCTGAGGCTCTTGTACTTAACTACCACCTTCTTTTGTCCCTTCTGTCTCTCAG
Seq C2 exon
AGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCGTGGTTGGCCTTGTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCACCGACAGCTTGACTCCTACAAGAATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCACGTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:22
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:
PF0213416=UBACT=FE(43.5=100)
A:
NA
C2:
PF0213416=UBACT=PD(47.8=51.6),PF093585=UBA_e1_C=PU(18.2=37.5)
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:
TTTCATCGTGGCTGCATCCAA
R:
CGGCAAGGGGTTCAGAGAAAC
Band lengths:
245-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains