HsaINT0176122 @ hg38
Intron Retention
Gene
ENSG00000182179 | UBA7
Description
ubiquitin like modifier activating enzyme 7 [Source:HGNC Symbol;Acc:HGNC:12471]
Coordinates
chr3:49811273-49812016:-
Coord C1 exon
chr3:49811870-49812016
Coord A exon
chr3:49811456-49811869
Coord C2 exon
chr3:49811273-49811455
Length
414 bp
Sequences
Splice sites
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
3' ss Seq
CCACAGAGTCCTACCAACAGGTT
3' ss Score
2.98
Exon sequences
Seq C1 exon
AAGTCCCTGGACACAGCCCTGCTCCAGCCCCATGTGGTGGCCCAGAGCTCCCAGGAAGTTCACCATGCCCACTGCCTGCATCAGGCCTTCTGTGCACTGCACAAGTTCCAGCACCTCCATGGCCGGCCACCCCAGCCCTGGGATCCT
Seq A exon
GTGAGTAGTCCTGTTGCTCCCACCCCCAGCCTCTGTCATTTATTGGGGTCCCACCTGCCAGAGGCAACAATGACCATTCACAAATCCAAGTCTGATCTCCCAACACTGCAGCCTTTAGAGTAGAGACTGGTTCCATGGAAGTGCCAGGCACACATCCTGGGGACTCCTGCTACACCCCGACCCCTCAGATCTGTGCTGGAAGCTGCACTCAGATTAGTGAAGCCTCCTGGACTGCTGTCTGGTACTGGGCATCCTCTGGTGGTGCTGTGCAGGCTGGCAGCAGGGCCAGGCCTTCCCACCCAGGCTTCTGCTTCCTCTTCTGTGGAACAGGGTGGATGGAGGGTGGCTGGAAGGATTTGAGTCAGGAGTAGAGCTCAGGCTGGGGCTACTATGCCCACAGAGTCCTACCAACAG
Seq C2 exon
GTTGATGCAGAGACTGTGGTGGGCCTGGCCCGGGACCTGGAACCACTGAAGCGGACAGAGGAAGAGCCACTGGAAGAGCCACTGGATGAGGCCCTAGTGCGGACAGTCGCCCTAAGCAGTGCAGGTGTCTTGAGCCCTATGGTGGCCATGCTGGGTGCAGTAGCTGCCCAGGAAGTGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182179:ENST00000333486:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.163 A=NA C2=0.262
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF052378=MoeZ_MoeB=PU(44.9=50.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTCCCTGGACACAGCCC
R:
CACTTCCTGGGCAGCTACTG
Band lengths:
324-738
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains