HsaEX0018920 @ hg38
Exon Skipping
Gene
ENSG00000125485 | DDX31
Description
DEAD-box helicase 31 [Source:HGNC Symbol;Acc:HGNC:16715]
Coordinates
chr9:132612087-132618441:-
Coord C1 exon
chr9:132618330-132618441
Coord A exon
chr9:132614902-132615037
Coord C2 exon
chr9:132612087-132612255
Length
136 bp
Sequences
Splice sites
3' ss Seq
CGCTTGTGTGGGTCCCACAGCCC
3' ss Score
7.27
5' ss Seq
CAAGTATGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
AAATCCCATGCTGTTGGCCCCCAGGAAATCCGAGAGCGAGCCACAGTCTTGCAGACGGTATTTGAAGATTACGTGCACTCCAGTGAGAGGAGGGTCTCCTGGGCAAAGAAAG
Seq A exon
CCCCTGTTCCTTCTGCACATTCTCGACGCTGCCAACATGAGCACTTCCTGCTCCTTGAAAGGTTCTGCAGACAGCTACTGCAGCGTCTTTGAAATTCCTGCTTCTCTGAATTATCCAAACATGGGAGTCCATGCAA
Seq C2 exon
CTCTGCAGTCCTTCATCCAAGCCTACGCCACCTACCCCAGGGAGCTGAAGCACATCTTCCACGTCCGATCCCTCCACCTTGGGCATGTGGCGAAGAGCTTCGGACTAAGAGATGCCCCCAGGAATCTTAGTGCCTTGACTAGAAAGAAGAGGAAAGCACACGTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125485_MULTIEX2-8/8=7-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.074 A=0.000 C2=0.298
Domain overlap (PFAM):
C1:
PF139591=DUF4217=PU(33.8=57.9)
A:
NO
C2:
PF139591=DUF4217=PD(64.6=73.7)
Main Inclusion Isoform:
ENST00000372153fB1997
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATCCCATGCTGTTGGCCC
R:
AGGCACTAAGATTCCTGGGGG
Band lengths:
247-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development