HsaEX1037265 @ hg38
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171868681-171999855:-
Coord C1 exon
chr2:171999679-171999855
Coord A exon
chr2:171893205-171893258
Coord C2 exon
chr2:171868681-171868823
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTTTTTGCTTACAGGTG
3' ss Score
12.67
5' ss Seq
CAGGTAAAT
5' ss Score
8.76
Exon sequences
Seq C1 exon
GTGCGCGCGCGGGGCTGACTGCGGGAGCCCTGGCTGGGAAGCGGCTAGGGCACCCGGGCAAGCAGCAGAACCCGCGGCCGGCTGAGTCCTCTCCAGCCGCGAGAGGCGGGCTCCAGCCGCGGCTCGCGCGCTCGCTCTGAGCCCCCGCGCCCAGGTGGGATGGAAGAAGCCTGTCAG
Seq A exon
GTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAG
Seq C2 exon
TATGCCAGTACTGAGGTTGATGGAGAGCGTTATATGACCCCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCAAAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840-'0-37,'0-30,5-37
Average complexity
C2
Mappability confidence:
93%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.130 C2=0.012
Domain overlap (PFAM):
C1:
NA
A:
PF134991=EF-hand_7=PU(14.5=55.6)
C2:
PF134991=EF-hand_7=FE(68.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGATGGAAGAAGCCTGTCA
R:
AAGAGCTGCACGATCTTTGGG
Band lengths:
135-189
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains