HsaEX0059040 @ hg38
Exon Skipping
Gene
ENSG00000125648 | SLC25A23
Description
solute carrier family 25 member 23 [Source:HGNC Symbol;Acc:HGNC:19375]
Coordinates
chr19:6438447-6444301:-
Coord C1 exon
chr19:6444151-6444301
Coord A exon
chr19:6441979-6442159
Coord C2 exon
chr19:6438447-6438534
Length
181 bp
Sequences
Splice sites
3' ss Seq
CCCCCCCCGCCCCCTCCCAGCCT
3' ss Score
7.04
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
ACTCTGAAGAACTGGTGGCTTCAGCAGTACAGCCACGACTCGGCAGACCCAGGCATCCTCGTGCTCCTGGCCTGCGGTACCATATCCAGCACCTGCGGCCAGATAGCCAGTTACCCGCTGGCCCTGGTCCGGACCCGCATGCAGGCACAAG
Seq A exon
CCTCCATCGAGGGTGGCCCCCAGCTGTCCATGCTGGGTCTGCTACGTCACATCCTGTCCCAGGAGGGCATGCGGGGCCTCTACCGGGGGATCGCCCCCAACTTCATGAAGGTTATTCCAGCTGTGAGCATCTCCTATGTGGTCTACGAGAACATGAAGCAGGCCTTGGGGGTCACGTCCAG
Seq C2 exon
GATTTCATCATGTTGCCCAGGCTCATCTCGAACTCGTGGGGTCAAGGAATTCGCCAGCCTTCAGCCTCCCAACGTGCTGGGATTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125648_MULTIEX1-11/14=10-13
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0015322=Mito_carr=PD(10.8=19.6),PF0015322=Mito_carr=PU(36.5=68.6)
A:
PF0015322=Mito_carr=PD(61.5=96.7)
C2:
PF0015322=Mito_carr=PD(35.7=66.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGAACTGGTGGCTTCAGCA
R:
CTGTAATCCCAGCACGTTGG
Band lengths:
234-415
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