Special

HsaEX0058974 @ hg38

Exon Skipping

Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171810224-171815202:-
Coord C1 exon
chr2:171815121-171815202
Coord A exon
chr2:171813339-171813497
Coord C2 exon
chr2:171810224-171810276
Length
159 bp
Sequences
Splice sites
3' ss Seq
AAAAATTGTTCTGTTTGTAGCTG
3' ss Score
6.44
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
Exon sequences
Seq C1 exon
CAGTCTCCTGGGTTAGGCAGGCCTATCTGGCTCCAGATTGCCGAGTCTGCTTACAGATTCACTCTGGGCTCAGTTGCTGGAG
Seq A exon
CTGTGGGAGCCACTGCAGTGTATCCTATAGATCTGGTGAAGACCCGAATGCAAAACCAGCGTGGCTCTGGCTCTGTTGTTGGGGAGCTAATGTACAAAAACAGCTTTGACTGTTTTAAGAAAGTCTTGCGTTATGAGGGCTTCTTTGGACTCTACAGGG
Seq C2 exon
GTCTGATACCACAACTTATAGGGGTTGCTCCAGAAAAGGCCATTAAACTGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840_MULTIEX2-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0015322=Mito_carr=PU(14.3=50.0)
A:
PF0015322=Mito_carr=FE(54.1=100)
C2:
PF0015322=Mito_carr=FE(17.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTCTCCTGGGTTAGGCAGG
R:
AGTTTAATGGCCTTTTCTGGAGCA
Band lengths:
131-290
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