HsaEX0058982 @ hg19
Exon Skipping
Gene
ENSG00000004864 | SLC25A13
Description
solute carrier family 25, member 13 (citrin) [Source:HGNC Symbol;Acc:10983]
Coordinates
chr7:95775868-95799437:-
Coord C1 exon
chr7:95799357-95799437
Coord A exon
chr7:95799181-95799255
Coord C2 exon
chr7:95775868-95776008
Length
75 bp
Sequences
Splice sites
3' ss Seq
AGGCTTCTGTTTAACCACAGATC
3' ss Score
7.37
5' ss Seq
AGGGTAAAT
5' ss Score
5.83
Exon sequences
Seq C1 exon
GTGAACGATTTTGTGAGGGATAAATTTATGCACAAAGATGGTTCGGTCCCACTTGCAGCAGAAATTCTTGCTGGAGGCTGC
Seq A exon
ATCCTGCACAAGGGCAGAGTCTACTAGGGCACCTCGGCTTTTCCTAGACAGGCGAACCATTCCAGAGGTGGAAGG
Seq C2 exon
GCTGGAGGCTCCCAGGTGATTTTCACAAATCCTTTAGAAATCGTCAAGATCCGTTTGCAAGTGGCAGGAGAAATCACCACTGGTCCTCGAGTCAGTGCTCTGTCTGTCGTGCGGGACCTGGGGTTTTTTGGGATCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004864_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0015322=Mito_carr=PD(12.2=44.4),PF0015322=Mito_carr=PU(14.1=48.1)
A:
NO
C2:
PF0015322=Mito_carr=FE(50.0=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCACAAAGATGGTTCGGTCC
R:
TCCCGCACGACAGACAGAG
Band lengths:
169-244
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)