HsaINT1041377 @ hg38
Intron Retention
Gene
ENSG00000107290 | SETX
Description
senataxin [Source:HGNC Symbol;Acc:HGNC:445]
Coordinates
chr9:132288236-132288651:-
Coord C1 exon
chr9:132288550-132288651
Coord A exon
chr9:132288352-132288549
Coord C2 exon
chr9:132288236-132288351
Length
198 bp
Sequences
Splice sites
5' ss Seq
TGAGTAAGT
5' ss Score
8.82
3' ss Seq
TTATTTGTTATTTTTATTAGAAA
3' ss Score
6.57
Exon sequences
Seq C1 exon
GAAACTGTGGAGATATAAATTTAGTACGACTGGGTCCAGAAAAGTCTATTAATAGTGAGGTTCTAAAGTTCAGTTTGGACAGCCAAGTAAACCACAGAATGA
Seq A exon
GTAAGTACTGAATGTGGTATATACTAGTGTTTTCTCTGTTTTGTTTGGTGGAAAATGACTTGGGCACTAAAGGTAATTTGAAGCCTCCAGAATTAGTCTGGCTTTGGGAACTAATTTTCCTTCTCATTGTGTTGTATATGTGTGTGAGTTTGTTAGAATTAGAATAGCATATAATTTTTTATTTGTTATTTTTATTAG
Seq C2 exon
AAAAAGAGTTACCTTCTCATGTTCAGGCGATGCATAAAAGAAAGGAATTTCTAGATTATCAGCTGGATGAGCTTTCCCGGCAGCGAGCTCTATGCCGAGGTGGACGGGAAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107290:ENST00000224140:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=NA C2=0.231
Domain overlap (PFAM):
C1:
PF130861=AAA_11=FE(11.9=100)
A:
NA
C2:
PF130861=AAA_11=FE(13.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGATATAAATTTAGTACGACTGGG
R:
CTGTATTTCCCGTCCACCTCG
Band lengths:
210-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains