HsaEX0058970 @ hg38
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171855834-171893258:-
Coord C1 exon
chr2:171893205-171893258
Coord A exon
chr2:171868681-171868823
Coord C2 exon
chr2:171855834-171855949
Length
143 bp
Sequences
Splice sites
3' ss Seq
TTATTTATTTATTTTTTTAGTAT
3' ss Score
8.27
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAG
Seq A exon
TATGCCAGTACTGAGGTTGATGGAGAGCGTTATATGACCCCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCAAAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGG
Seq C2 exon
GTTGATCTCCTATCAAGAGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAGAGTGGAAATGGAGAGGTGACATTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840_MULTIEX1-3/6=C1-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.130 A=0.012 C2=0.000
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PU(14.5=55.6)
A:
PF134991=EF-hand_7=FE(68.1=100)
C2:
PF134991=EF-hand_7=PD(14.5=25.0),PF0003627=EF-hand_1=PU(65.5=47.5)
Main Skipping Isoform:
ENST00000422440fB6408
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCAGACAACTAAGCGAGGG
R:
CAAATGTCACCTCTCCATTTCCAC
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
- Pre-implantation embryo development