HsaEX6016708 @ hg19
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:HGNC Symbol;Acc:10982]
Coordinates
chr2:172700879-172725333:-
Coord C1 exon
chr2:172725191-172725333
Coord A exon
chr2:172712344-172712459
Coord C2 exon
chr2:172700879-172701018
Length
116 bp
Sequences
Splice sites
3' ss Seq
CGTTTTATATTTTATTCCAGGTT
3' ss Score
9.58
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
Exon sequences
Seq C1 exon
TATGCCAGTACTGAGGTTGATGGAGAGCGTTATATGACCCCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCAAAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGG
Seq A exon
GTTGATCTCCTATCAAGAGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAGAGTGGAAATGGAGAGGTGACATTTG
Seq C2 exon
AAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840-'7-14,'7-10,10-14=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=0.008 A=0.004 C2=0.000
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=FE(68.1=100)
A:
PF134991=EF-hand_7=PD(14.5=25.0),PF0003627=EF-hand_1=PU(65.5=47.5)
C2:
PF0003627=EF-hand_1=PD(31.0=19.1),PF134991=EF-hand_7=PU(43.9=53.2)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCAGTACTGAGGTTGATGGA
R:
GCTTCTTCCGGTTATGCCCAA
Band lengths:
246-362
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)