HsaEX6016711 @ hg38
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171834727-171844508:-
Coord C1 exon
chr2:171844369-171844508
Coord A exon
chr2:171837121-171837267
Coord C2 exon
chr2:171834727-171834865
Length
147 bp
Sequences
Splice sites
3' ss Seq
TATTTCTAATTTCCTCACAGGAG
3' ss Score
8.16
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
AAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAG
Seq A exon
GAGCTGCAATTGGAACATGCAAGACAAGCCTTTGCACTCAAAGACAAAAGCAAAAGTGGCATGATTTCTGGTCTGGATTTCAGTGACATCATGGTTACCATTAGATCTCACATGCTTACTCCTTTTGTGGAGGAGAACTTAGTTTCA
Seq C2 exon
GCAGCTGGAGGAAGTATCTCACACCAGGTTAGCTTCTCCTACTTCAATGCATTTAACTCGTTACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCTGGCACAAGGAAAGATGTTGAAGTCACAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840-'27-60,'27-57,32-60=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.034 C2=0.000
Domain overlap (PFAM):
C1:
PF0003627=EF-hand_1=PD(31.0=19.1),PF134991=EF-hand_7=PU(43.9=53.2)
A:
PF134991=EF-hand_7=PD(52.6=61.2)
C2:
NO
Main Skipping Isoform:
ENST00000422440fB25926
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCAAAGAAATTTTTGGACAGACT
R:
TTCCTTGTGCCAGCTAGAGTG
Band lengths:
255-402
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains