HsaEX6092263 @ hg38
Exon Skipping
Gene
ENSG00000125648 | SLC25A23
Description
solute carrier family 25 member 23 [Source:HGNC Symbol;Acc:HGNC:19375]
Coordinates
chr19:6436079-6458324:-
Coord C1 exon
chr19:6458198-6458324
Coord A exon
chr19:6457503-6457590
Coord C2 exon
chr19:6436079-6436464
Length
88 bp
Sequences
Splice sites
3' ss Seq
ACCTCCGGCCCCCTCCCCAGGTC
3' ss Score
10.69
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGTATCTCCTCTGAGGGTGATGCTGACCCAGATGGCGGGCTCGACCTGGAGGAATTTTCCCGCTATCTGCAGGAGCGGGAACAGCGTCTGCTGCTCATGTTTCACAGTCTTGACCGGAACCAGGATG
Seq A exon
GTCACATTGATGTCTCTGAGATCCAACAGAGTTTCCGAGCTCTGGGCATTTCCATCTCGCTGGAGCAGGCTGAGAAAATTTTGCACAG
Seq C2 exon
CCGGTGGTCATGCCATGAGCAGCCTTATGGAGAGGACCATGTGGTAAGGAACTCAGCCAATAGCCATGTAACTGAGCTTGGAAGAGGATCTTGCTGTCCTGGCCAACATCTCACTGCAATTCTATCAGTTGAATTCCCTGGATAGTCCAAGCTTTGTGGATCCCTCCACCGAAACAACTGGATCCCAGTACCTGAATCCTGAATCTTAGACTCTTATACTTCAAACACTGATCACGGGAACAGCCGGCTCAGCGGCTCCTGAGTTCCTAATGCTCAGAATATGGGTGAGATGATAAATGTTTGTTGTGTTAAGCTGCCAACCTTTGGCGGGGGGGTAATTCGTCACATGGCAACAGCTGGCTAATACATATATACCTACATGTATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125648_MULTIEX1-3/14=2-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.258 A=0.000 C2=0.016
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PD(33.3=51.2),PF134991=EF-hand_7=PU(30.4=48.8)
A:
PF134991=EF-hand_7=FE(42.0=100)
C2:
PF0015322=Mito_carr=PD(24.5=75.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTCTGAGGGTGATGCTGA
R:
GGCTGAGTTCCTTACCACATGG
Band lengths:
180-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains