Special

HsaEX0058984 @ hg19

Exon Skipping

Gene
ENSG00000004864 | SLC25A13
Description
solute carrier family 25, member 13 (citrin) [Source:HGNC Symbol;Acc:10983]
Coordinates
chr7:95838150-95906650:-
Coord C1 exon
chr7:95906508-95906650
Coord A exon
chr7:95864114-95864229
Coord C2 exon
chr7:95838150-95838289
Length
116 bp
Sequences
Splice sites
3' ss Seq
ATGTTTGTTTTATGTTGCAGATT
3' ss Score
11.24
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
Exon sequences
Seq C1 exon
TATGCAAGCATTGAGAAAAACGGTGAATTTTTCATGTCCCCCAATGACTTTGTCACTCGATACTTGAACATTTTTGGAGAAAGCCAGCCTAATCCAAAGACTGTGGAACTTTTAAGTGGAGTGGTGGATCAGACCAAAGATGG
Seq A exon
ATTAATATCTTTTCAAGAATTTGTTGCCTTTGAATCTGTCCTGTGTGCCCCTGATGCTTTGTTTATGGTAGCCTTTCAGCTGTTTGACAAAGCTGGCAAAGGAGAAGTAACTTTTG
Seq C2 exon
AGGATGTTAAGCAAGTTTTTGGACAGACCACAATTCATCAACATATTCCATTTAACTGGGATTCAGAATTTGTGCAACTACATTTTGGAAAAGAAAGAAAAAGACACCTGACATATGCGGAATTTACTCAGTTTTTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004864_MULTIEX2-2/3=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF134991=EF-hand_7=FE(71.2=100)
A:
PF134991=EF-hand_7=PD(15.2=25.0),PF134051=EF-hand_6=PU(50.0=47.5)
C2:
PF134051=EF-hand_6=PD(47.4=38.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTGAATTTTTCATGTCCCCC
R:
TCCGCATATGTCAGGTGTCTT
Band lengths:
244-360
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