HsaEX6009111 @ hg19
Exon Skipping
Gene
ENSG00000004864 | SLC25A13
Description
solute carrier family 25, member 13 (citrin) [Source:HGNC Symbol;Acc:10983]
Coordinates
chr7:95864114-95926263:-
Coord C1 exon
chr7:95926210-95926263
Coord A exon
chr7:95906508-95906650
Coord C2 exon
chr7:95864114-95864229
Length
143 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTTTTTTTAAACAGTAT
3' ss Score
9.56
5' ss Seq
TGGGTATGT
5' ss Score
7.43
Exon sequences
Seq C1 exon
GTGGCTTTAACCAAGAGAGCAGATCCAGCTGAGCTTAGAACAATATTTTTGAAG
Seq A exon
TATGCAAGCATTGAGAAAAACGGTGAATTTTTCATGTCCCCCAATGACTTTGTCACTCGATACTTGAACATTTTTGGAGAAAGCCAGCCTAATCCAAAGACTGTGGAACTTTTAAGTGGAGTGGTGGATCAGACCAAAGATGG
Seq C2 exon
ATTAATATCTTTTCAAGAATTTGTTGCCTTTGAATCTGTCCTGTGTGCCCCTGATGCTTTGTTTATGGTAGCCTTTCAGCTGTTTGACAAAGCTGGCAAAGGAGAAGTAACTTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004864-'3-7,'3-4,5-7=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=PU(10.6=38.9)
A:
PF134991=EF-hand_7=FE(71.2=100)
C2:
PF134991=EF-hand_7=PD(15.2=25.0),PF134051=EF-hand_6=PU(50.0=47.5)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGCTTTAACCAAGAGAGCAGA
R:
CAAAAGTTACTTCTCCTTTGCCAGC
Band lengths:
170-313
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)