Special

HsaEX6016713 @ hg19

Exon Skipping

Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:HGNC Symbol;Acc:10982]
Coordinates
chr2:172683308-172691375:-
Coord C1 exon
chr2:172691237-172691375
Coord A exon
chr2:172690473-172690566
Coord C2 exon
chr2:172683308-172683392
Length
94 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTCTCTGTTCCAGAGG
3' ss Score
12
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GCAGCTGGAGGAAGTATCTCACACCAGGTTAGCTTCTCCTACTTCAATGCATTTAACTCGTTACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCTGGCACAAGGAAAGATGTTGAAGTCACAAAGG
Seq A exon
AGGAATTTGCCCAGAGTGCCATACGCTATGGACAAGTCACACCACTAGAAATTGATATTCTATATCAGCTTGCAGACTTATATAATGCTTCAGG
Seq C2 exon
GCGCTTGACTTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAACTTCAGAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840-'20-23,'20-21,23-23=AN
Average complexity
A_S
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=FE(28.2=100)
A:
PF134991=EF-hand_7=FE(19.0=100)
C2:
PF134991=EF-hand_7=PD(6.7=37.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCACACCAGGTTAGCTTCTCCT
R:
TGTAAGGTAAGGCCCCCTCAG
Band lengths:
183-277
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains