HsaEX0058973 @ hg38
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171809606-171826882:-
Coord C1 exon
chr2:171826798-171826882
Coord A exon
chr2:171815121-171815202
Coord C2 exon
chr2:171809606-171809686
Length
82 bp
Sequences
Splice sites
3' ss Seq
ACCCGTTTTCTTCTCTGCAGCAG
3' ss Score
10.05
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GCGCTTGACTTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAACTTCAGAGACAG
Seq A exon
CAGTCTCCTGGGTTAGGCAGGCCTATCTGGCTCCAGATTGCCGAGTCTGCTTACAGATTCACTCTGGGCTCAGTTGCTGGAG
Seq C2 exon
GTTAATGATTTTGTTCGGGACAAATTTACCAGAAGAGATGGCTCTGTTCCACTTCCAGCAGAAGTTCTTGCTGGAGGCTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840_MULTIEX2-1/4=C1-4
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0015322=Mito_carr=PU(14.3=50.0)
C2:
PF0015322=Mito_carr=PD(12.2=44.4),PF0015322=Mito_carr=PU(14.1=48.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCTTGACTTTGGCAGATAT
R:
CCTCCAGCAAGAACTTCTGCT
Band lengths:
162-244
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