Special

HsaEX0058975 @ 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
chr2:171810224-171810276
Coord C2 exon
chr2:171809606-171809686
Length
53 bp
Sequences
Splice sites
3' ss Seq
GATTCTGTCCCTTTACCTAGGTC
3' ss Score
9.56
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
GCGCTTGACTTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAACTTCAGAGACAG
Seq A exon
GTCTGATACCACAACTTATAGGGGTTGCTCCAGAAAAGGCCATTAAACTGACT
Seq C2 exon
GTTAATGATTTTGTTCGGGACAAATTTACCAGAAGAGATGGCTCTGTTCCACTTCCAGCAGAAGTTCTTGCTGGAGGCTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840_MULTIEX2-3/4=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=FE(17.3=100)
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:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCTTGACTTTGGCAGATAT
R:
CTGCTGGAAGTGGAACAGAGC
Band lengths:
146-199
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development