Special

HsaEX0058973 @ hg19

Exon Skipping

Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:HGNC Symbol;Acc:10982]
Coordinates
chr2:172666116-172683392:-
Coord C1 exon
chr2:172683308-172683392
Coord A exon
chr2:172671631-172671712
Coord C2 exon
chr2:172666116-172666196
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_MULTIEX1-1/4=C1-4
Average complexity
C2*
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:
PF134991=EF-hand_7=PD(6.7=37.9)
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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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