HsaINT0176002 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47209928-47210916:+
Coord C1 exon
chrX:47209928-47210123
Coord A exon
chrX:47210124-47210841
Coord C2 exon
chrX:47210842-47210916
Length
718 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATG
5' ss Score
9.43
3' ss Seq
AAAATCTCTCCATCCCTTAGCTC
3' ss Score
6.26
Exon sequences
Seq C1 exon
AGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAG
Seq A exon
GTAATGCCCAGTTGTTGGGTCCATTTGGCAGAATGTGTTTCCCTGAAATGGGAGCCTGCAGTGTGGGTCCTCCCACTGTGGAGTCCAGCTGTGGCAGGTGCCCTGAGGCATGGGGATCTGAGAAGAGTGATTGATCCTGACCTGCTTTTTCCTCACCCTAGTTCCTTTGAGCAAAGAGGCTTGGTTGCTATTGCCCTTGACTGTGGTGTGGGCTGCGTCATACCTGATTCCCAGTCAGGGCTGTAGGGATTATGGGGGAGAAATTCTGGAGTTAAGAGCACAGGAATCAATATGGGTTCAAATCCAAACTCTACTTGAACTTAGGCAAATCACGTAACTTCTCTCTGTACCTCAGTTTCCTCGTCTGTGAAGTAGAAATAATAGTGATCTATCTCATGGGGGGTTTGGGGAGGATTAACTGGTATTTATTAAAATGAAGTTAGTACAATGCCTGGTAATCCATGAGAGTTTGTTAAATGATGGGCTGTTTAGCACAAAATGGCTACCCAGTGATTGGTAATTGTTCTCTCAGCCAGATCTCTGGTTCAACCTGTGGGACCCTACAGTTGAGGTATTTTGTGATTGGCTCCAGTCCGCATCGAGTGCCCAACCCAAGATAGTGAATTGGGGGCACATCTGGGGCCTAGGTGAAGCGTGAAGATTGTCAGAGAGGCCTTCACTCTCAGGTCCTGTTCTCAAAAATCTCTCCATCCCTTAG
Seq C2 exon
CTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:18
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=0.093
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0213416=UBACT=PU(7.4=20.0)
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:
AGACCCCAAGTTTGTGGAGC
R:
TTGTTGACATCAAAGGTGAGCG
Band lengths:
270-988
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains