HsaEX6063630 @ hg38
Exon Skipping
Gene
ENSG00000107290 | SETX
Description
senataxin [Source:HGNC Symbol;Acc:HGNC:445]
Coordinates
chr9:132261356-132331139:-
Coord C1 exon
chr9:132331052-132331139
Coord A exon
chr9:132326324-132330499
Coord C2 exon
chr9:132261356-132311856
Length
4176 bp
Sequences
Splice sites
3' ss Seq
CAGCATTTCTTTCATTTTAGGAT
3' ss Score
9.49
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GACCAAGTTAGAACCGGAGTCCTATTTGGATGATATGGTGACTTGCAGCCAGATCGTATACAATTATAATCCTGAAAAGACCAAAAAG
Seq A exon
GATTCTGGATGGAGAACAGCCATTTGCCCAGATTATTGTCCTAACATGTATGAAGAAATGGAAACATTAGCCAGTGTACTTCAGTCAGATATTGGTCAAGACATGCGTGTTCATAACAGCACATTTCTATGGTTCATCCCTTTTGTCCAGTCCCTCATGGATCTTAAGGATTTGGGTGTGGCTTACATAGCACAGGTTGTTAATCATCTGTACTCTGAAGTCAAAGAAGTCCTCAACCAAACAGATGCTGTGTGTGACAAAGTCACTGAATTTTTTCTTCTAATTTTGGTATCAGTGATTGAACTGCATAGAAATAAAAAATGTTTGCATTTGCTGTGGGTAAGTTCCCAGCAATGGGTGGAAGCCGTCGTCAAATGTGCCAAGCTTCCTACCACTGCGTTTACACGGAGTTCTGAGAAATCATCTGGAAATTGCTCCAAAGGAACAGCAATGATATCTTCACTGTCATTGCATTCCATGCCATCTAACTCTGTACAACTTGCTTATGTGCAGCTGATTAGAAGTCTCCTTAAAGAAGGTTATCAGCTTGGGCAGCAGTCTCTTTGCAAGCGATTCTGGGATAAGCTCAACTTATTCCTTAGAGGAAATTTATCTCTAGGTTGGCAGTTGACTAGTCAGGAAACCCATGAGCTACAAAGTTGCTTAAAGCAAATTATTAGAAACATAAAATTCAAAGCACCTCCATGTAACACTTTTGTGGATCTGACTTCTGCATGTAAAATCTCTCCTGCATCTTATAATAAAGAAGAAAGTGAACAAATGGGGAAGACGTCTAGAAAAGATATGCATTGTTTGGAAGCTTCCAGCCCAACATTTTCTAAAGAACCAATGAAAGTGCAAGACAGTGTATTGATCAAAGCAGATAACACTATAGAAGGTGACAATAATGAGCAAAATTATATAAAGGATGTGAAACTAGAGGACCATCTCTTAGCTGGGTCATGCTTAAAGCAGAGTAGTAAAAACATTTTTACTGAAAGAGCTGAAGATCAAATTAAAATAAGTACAAGGAAGCAGAAGTCTGTAAAAGAGATCTCTTCATATACACCAAAGGACTGTACTTCAAGAAATGGTCCAGAAAGGGGATGTGACAGAGGAATAATAGTATCAACACGTTTGTTGACTGATTCTAGCACTGATGCTTTGGAAAAAGTGTCCACATCGAATGAAGATTTCTCTTTAAAGGATGATGCTCTTGCTAAAACCTCAAAACGAAAAACTAAGGTACAGAAAGATGAAATCTGTGCAAAGTTATCACATGTAATAAAGAAGCAACACAGGAAGAGTACTTTGGTCGATAATACTATCAATTTAGATGAAAATTTGACTGTATCTAACATTGAGAGTTTCTATTCAAGGAAAGATACAGGAGTTCAGAAAGGAGATGGTTTCATACACAATCTTTCTTTAGACCCTAGTGGTGTTCTGGATGATAAGAATGGAGAACAAAAATCTCAAAACAATGTATTGCCAAAAGAGAAACAATTAAAGAATGAAGAATTAGTTATTTTCTCTTTCCATGAAAACAATTGTAAAATACAGGAATTTCATGTTGATGGTAAAGAATTGATCCCTTTTACAGAAATGACCAATGCTTCAGAGAAGAAATCATCTCCCTTTAAAGATCTTATGACTGTACCTGAATCAAGAGATGAGGAGATGAGTAATAGTACCAGTGTGATTTATTCTAACTTGACAAGAGAACAGGCCCCTGACATCAGTCCTAAATCTGACACCTTAACGGATTCTCAGATAGACAGAGACCTTCACAAATTATCTTTACTAGCTCAAGCCAGTGTTATTACGTTCCCATCCGATTCACCTCAGAACTCATCGCAGCTGCAAAGGAAAGTAAAAGAAGATAAAAGATGTTTCACAGCTAACCAAAATAATGTTGGAGATACCTCCCGTGGACAGGTTATTATTATTTCAGATTCTGATGATGATGATGATGAAAGAATCCTGAGTCTTGAGAAACTCACTAAACAGGACAAAATATGCCTTGAGAGGGAACATCCAGAGCAGCACGTTTCAACAGTTAATAGTAAGGAGGAAAAGAATCCAGTAAAGGAAGAAAAGACAGAGACTCTTTTTCAGTTTGAGGAATCTGATTCTCAGTGTTTTGAGTTTGAAAGTTCATCTGAAGTGTTTTCAGTTTGGCAAGATCATCCAGACGATAATAATTCAGTTCAAGATGGTGAGAAAAAATGTTTGGCTCCTATAGCCAATACTACAAATGGTCAGGGTTGTACAGATTATGTATCTGAAGTTGTTAAAAAAGGAGCAGAGGGCATTGAAGAACACACAAGACCACGGAGTATTTCTGTTGAAGAATTTTGTGAAATTGAAGTAAAAAAGCCTAAGAGAAAACGATCTGAAAAACCAATGGCTGAAGATCCTGTGAGGCCTTCATCTTCTGTCAGAAATGAGGGCCAGTCTGATACTAATAAGAGAGATCTTGTGGGAAATGATTTTAAAAGTATTGATAGAAGGACTTCAACTCCCAATTCACGTATTCAGAGAGCCACTACGGTTTCACAAAAGAAGTCTTCAAAGCTTTGTACTTGTACAGAACCCATCAGGAAAGTTCCAGTTTCTAAGACCCCTAAGAAAACTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAATTACCTAAGTTGTAGAACAACTCCTGCTATAGTGCCGCCAAAGAAATTTCGTCAGTGTCCTGAGCCAACTTCAACAGCTGAGAAACTTGGCCTGAAAAAGGGTCCTCGTAAGGCATATGAGTTGTCCCAGCGGTCTTTGGATTATGTAGCTCAATTACGTGATCATGGCAAAACTGTTGGAGTAGTTGATACCCGAAAAAAGACTAAATTAATTTCTCCTCAGAACCTGTCTGTCAGAAATAATAAGAAACTTCTGACTAGTCAAGAACTTCAGATGCAAAGGCAGATCAGACCCAAATCACAAAAAAATAGACGAAGACTTTCTGATTGTGAAAGTACAGATGTTAAAAGAGCAGGGTCACATACAGCACAGAATTCTGACATATTTGTACCAGAATCTGATAGGTCAGATTATAATTGTACAGGAGGAACTGAGGTACTTGCCAACAGTAACAGAAAACAGTTAATAAAATGCATGCCTTCTGAACCAGAAACCATAAAAGCAAAACATGGGTCTCCAGCAACTGATGATGCTTGCCCTTTGAACCAGTGTGATTCTGTAGTGTTAAATGGAACAGTACCAACAAATGAAGTAATTGTCTCCACTTCAGAAGACCCTCTGGGTGGAGGTGATCCAACAGCACGTCATATAGAGATGGCAGCTTTGAAAGAAGGAGAGCCTGACTCCAGCAGTGATGCAGAGGAAGATAACTTATTTTTAACCCAAAATGATCCTGAAGATATGGATTTATGTTCACAAATGGAGAATGACAATTATAAACTCATTGAACTAATTCATGGAAAAGATACAGTTGAGGTTGAAGAAGATTCTGTAAGTCGGCCTCAGTTGGAATCTTTGAGTGGCACAAAGTGTAAGTACAAAGATTGTCTTGAAACCACAAAAAACCAGGGTGAATACTGCCCAAAACACTCTGAAGTGAAAGCAGCAGATGAAGATGTATTTCGTAAACCTGGCTTGCCTCCTCCTGCATCTAAACCTTTGAGACCTACCACTAAGATTTTTAGCTCAAAGAGTACTTCACGAATTGCTGGTCTTTCTAAATCTTTGGAAACTTCTTCAGCACTTTCACCGTCTCTAAAAAATAAGTCAAAGGGGATACAGTCGATTTTGAAAGTACCACAGCCAGTTCCCCTCATAGCTCAGAAGCCAGTTGGTGAAATGAAGAATTCGTGCAATGTTCTTCATCCTCAGTCTCCGAATAATTCCAACAGGCAAGGTTGCAAAGTTCCATTTGGTGAAAGCAAATATTTTCCATCTTCCTCTCCAGTAAACATTCTTTTGTCATCACAGTCTGTCTCTGACACCTTCGTTAAAGAGGTCTTAAAATGGAAATATGAAATGTTTTTGAACTTTGGTCAGTGTGGGCCCCCTGCAAGTCTTTGTCAGTCCATCTCAAGACCTGTGCCTGTCAGATTTCACAATTATGGAGATTATTTTAATGTTTTTTTCCCTTTGATGGTATTGAATACTTTTGAAACA
Seq C2 exon
GTGGCACAAGAATGGCTCAACTCTCCAAATAGAGAGAATTTCTATCAGTTGCAAGTACGAAAATTTCCTGCCGATTATATAAAATACTGGGAGTTTGCAGGTAAGTTTTTTCTTACGCAACTTGGAATATATGATATAATAATTGGAGATTTCTAATTAAGAGGAGATAGCATTATTTGAATTTAGGGGGACACAAATTTTCTAAGCTAAATTTGTGACTTCTTAGAATATGCTTAAAGTCTTAATGAGGATAGTTACTGGAACAATTATGAATGTAAAATTTATGATTTTTTTCCCCACTCTGTAGTTAGAATACTACAGGCTGAATTGTCAGTGGGGGCTGGGAATGGGAGAGAGGGTGAGTGGAGGGATTTGGTGGGGGTGTTGCATAATAGTCTTTACAGATTCTGAGTAAATCTTCCTGGCATCTGTCTTTTCATTTCATGATTGATCCGAACCACATACCACTTTTATATACTAGTTATAAATACACCAAACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107290-'28-32,'28-25,29-32=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.489 C2=0.573
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 16524884
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, two hybrid. ELM ID: ELMI002787; ELM sequence: QVIIISDSDDDDDE; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains