HsaEX6092262 @ hg38
Exon Skipping
Gene
ENSG00000125648 | SLC25A23
Description
solute carrier family 25 member 23 [Source:HGNC Symbol;Acc:HGNC:19375]
Coordinates
chr19:6440064-6459735:-
Coord C1 exon
chr19:6459473-6459735
Coord A exon
chr19:6458198-6458324
Coord C2 exon
chr19:6440064-6442159
Length
127 bp
Sequences
Splice sites
3' ss Seq
ATCCCCTTTCCCTCTGTCAGGGT
3' ss Score
9.16
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
Exon sequences
Seq C1 exon
GCGGCCGCGGGAGCTGACCCTGCGGGGTCCCGGGGGGGGAGGGGGAGCCGCGAAGCCCCCACTGAGGCCGCCGCTGCCGGGCCTCCCCTCCCCCCCGGGCGGGCGCCATGCGGGGGAGCCCGGGCGACGCGGAGCGGCGGCAGCGCTGGGGTCGCCTGTTCGAGGAGCTGGACAGTAACAAGGATGGCCGCGTGGACGTGCACGAGTTGCGCCAGGGGCTGGCCAGGCTGGGCGGGGGCAACCCAGACCCCGGCGCCCAACAG
Seq A exon
GGTATCTCCTCTGAGGGTGATGCTGACCCAGATGGCGGGCTCGACCTGGAGGAATTTTCCCGCTATCTGCAGGAGCGGGAACAGCGTCTGCTGCTCATGTTTCACAGTCTTGACCGGAACCAGGATG
Seq C2 exon
CCTCCATCGAGGGTGGCCCCCAGCTGTCCATGCTGGGTCTGCTACGTCACATCCTGTCCCAGGAGGGCATGCGGGGCCTCTACCGGGGGATCGCCCCCAACTTCATGAAGGTTATTCCAGCTGTGAGCATCTCCTATGTGGTCTACGAGAACATGAAGCAGGCCTTGGGGGTCACGTCCAGGTGAGGGACCCGGAGCCCGTCCCCCCAATCCCTCACCCCCCACACCTCAGCCACTGGAGACTGATGATCCAACCACAGGATCCCTACTCTTTGGCCACGAGATCCCAGTACCCAGATCCTGGATCCTAGACTCCTATGCCCCAACCATTGGGTCATGGGATCCCAGCATCCAGATCCTGGATCCTAGACTCCTATGCCCCAACCACTGGGTCATGCGATCCCCACCCTTCAGCCACTAGATCCCAGATCCCCCTGTAACCATAACTGTGGATCCCTTACTTCAGCAACTCAAGTCTGCTACCCTAACCACAAGATTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125648_MULTIEX1-2/14=1-11
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.769 A=0.258 C2=0.000
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PU(63.6=80.8)
A:
PF134991=EF-hand_7=PD(33.3=51.2),PF134991=EF-hand_7=PU(30.4=48.8)
C2:
PF0015322=Mito_carr=PD(61.1=93.5)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGACAGTAACAAGGATGGCCG
R:
GGCCTGCTTCATGTTCTCGTA
Band lengths:
258-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains