HsaINT0176008 @ hg38
Intron Retention
Gene
ENSG00000130985 | UBA1
Description
ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469]
Coordinates
chrX:47212990-47214428:+
Coord C1 exon
chrX:47212990-47213181
Coord A exon
chrX:47213182-47214326
Coord C2 exon
chrX:47214327-47214428
Length
1145 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
3' ss Seq
CTCCCCTCTTTGTCTTGCAGTAC
3' ss Score
10.45
Exon sequences
Seq C1 exon
AGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCGTGGTTGGCCTTGTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCACCGACAGCTTGACTCCTACAAGAATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCACGTCACCAG
Seq A exon
GTGGGGGCCTGCATCCGAAGCAGGGTTTGGGTGGGGTGTATCTGTGTAGATCTGGTTCTGATTCACGTCATACCCTGTCACCAGGTGAGGGTTTCTGTCTGTGTACCTACCCTTTTTGTGTATCCTTTTTCACTTATTCATTAATCACATTATTTGAGTACGTGCGAAAAGATGGGATATTTGAATTGTGCCCTGGGAGATTATTAGTAACTACACAATAATGGCAGCCAAAATTTATTGGACGCTTCCTACACTTAAGTGCTTTGCTTGCTTCATTAATGAATTCACTCAAATATTTATTGAGCACCTTTTGTGTGCAGGGACTCTTCTAAGTTATGTTCCTCAAGTAGATTATATAAATAACCTATTAAATGATTTTGGAATCAAAAAAGGATAAAAAGAGGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCACGTGGTTCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTAGTGGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCATTGCACTCCCGCCTGGGTGACAGAGCGAGACTGCATCTCAAAAAAAAAAAAAGATAAAGAGGACTTGAGAATACCAGGGGGCGAGGGGATGTATTTGAGATTTTGTGTAGGATGGTCAGAAAAGGCCTTGCTGAAAAGATGACATTTGAGATCAGACTTGGAGGATGTAAGGGGACAAACTGTGCAGGCTTGGTGGCGAGTGGGGACACATTCCAGGCAGAGGGACCAGTTCTTGAAAGGGTACCAAGATAGGGGTGTGCCTGGCAAGTTGGAGGAATTCAAAGTCCCCAGAGTGAGTGTGAGATTGAGGAGGGTAGGAGATGAGAAGAAAACAGAATTTCATTGCTTAGGGTGAGATAGGAACCACAAGAGGATTTCGAACAAAAGAGGGTTGTGATCTGACTAAACACGTCTGCATGGGGGTAGGGGGGATGGAGACAGATGGGGGCTGGACCCTCTGGGATGGTCTCCATCTTACACTCCCCTCTTTGTCTTGCAG
Seq C2 exon
TACTATAACCAAGAGTGGACATTGTGGGATCGCTTTGAGGTACAAGGGCTGCAGCCTAATGGTGAGGAGATGACCCTCAAACAGTTCCTCGACTATTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985:ENST00000335972:23
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=PD(47.8=51.6),PF093585=UBA_e1_C=PU(18.2=37.5)
A:
NA
C2:
PF093585=UBA_e1_C=FE(25.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGCTGATTGCAGGGAAGATCA
R:
ATAGTCGAGGAACTGTTTGAGGG
Band lengths:
286-1431
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains