HsaEX0058977 @ hg38
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171844369-171855949:-
Coord C1 exon
chr2:171855834-171855949
Coord A exon
chr2:171848173-171848276
Coord C2 exon
chr2:171844369-171844508
Length
104 bp
Sequences
Splice sites
3' ss Seq
GATGGCTTGTATACCTACAGGAG
3' ss Score
6.67
5' ss Seq
GAGGTAATT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GTTGATCTCCTATCAAGAGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAGAGTGGAAATGGAGAGGTGACATTTG
Seq A exon
GAGGAGTTCTCTGGCCACACCGTTGGTACAGCAGCTCCTTCCAGGCTCATTCATGGAACAGGCATGGTGGCAGTCTTGGAGAAGAGTGCCAGCCCCGGTCAGAG
Seq C2 exon
AAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840_MULTIEX1-5/6=4-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.152 C2=0.000
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PD(14.5=25.0),PF0003627=EF-hand_1=PU(65.5=47.5)
A:
NO
C2:
PF0003627=EF-hand_1=PD(31.0=19.1),PF134991=EF-hand_7=PU(43.9=53.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCTATCAAGAGTTTTTGGCA
R:
TGGAGAAACTGCGTGAATTCTGT
Band lengths:
250-354
Functional annotations
There are 1 annotated functions for this event
PMID: 31911676
[CRISPR screen]. Conserved poison exon with negative fitness/survivability impact when depleted: HeLa No Change at 14 days (FC=0.823, FDR=0.001), PC9 Depleted at 14 days (FC=0.543, FDR=0.000), Late Xenograft Depleted (FC=0.683, FDR=0.000).
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development