Special

HsaEX6016709 @ hg19

Exon Skipping

Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:HGNC Symbol;Acc:10982]
Coordinates
chr2:172700879-172712459:-
Coord C1 exon
chr2:172712344-172712459
Coord A exon
chr2:172702237-172702368
Coord C2 exon
chr2:172700879-172701018
Length
132 bp
Sequences
Splice sites
3' ss Seq
AAGTATTTGTCCCTACTTAGGGA
3' ss Score
6.5
5' ss Seq
CTGGTAGAA
5' ss Score
1.17
Exon sequences
Seq C1 exon
GTTGATCTCCTATCAAGAGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAGAGTGGAAATGGAGAGGTGACATTTG
Seq A exon
GGAAGAAATGAATCCTGCATTCCATTTCAAAGAAAAGATGAGAATCCCATCTCCCCAGTGACATCCAATGCCTTCTTCCAACTTTGCTGATTGCTGCAATCTATTCAGAGCTATTATATTGACTCTAGACTG
Seq C2 exon
AAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840-'10-14,'10-13,14-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.004 A=0.333 C2=0.000
Domain overlap (PFAM):

C1:
PF134991=EF-hand_7=PD(14.5=25.0),PF0003627=EF-hand_1=PU(65.5=47.5)
A:
NO
C2:
PF0003627=EF-hand_1=PD(31.0=19.1),PF134991=EF-hand_7=PU(43.9=53.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCTATCAAGAGTTTTTGGCA
R:
TGGAGAAACTGCGTGAATTCTGT
Band lengths:
250-382
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains