HsaEX0019448 @ hg38
Exon Skipping
Gene
ENSG00000157680 | DGKI
Description
diacylglycerol kinase iota [Source:HGNC Symbol;Acc:HGNC:2855]
Coordinates
chr7:137645472-137656540:-
Coord C1 exon
chr7:137656466-137656540
Coord A exon
chr7:137654732-137654788
Coord C2 exon
chr7:137645472-137645537
Length
57 bp
Sequences
Splice sites
3' ss Seq
CTTTTCTTTTTGAATGACAGATT
3' ss Score
8.45
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
AAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAG
Seq A exon
ATTAATTTCAGATGTAAACCAACATTTCGAGAAGGAGGCTCAAGGTCACCAAGAGAA
Seq C2 exon
AATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157680-'30-21,'30-20,31-21=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=0.000 C2=0.242
Domain overlap (PFAM):
C1:
PF0013017=C1_1=FE(42.9=100)
A:
PF0013017=C1_1=PD(8.9=26.3)
C2:
PF0013017=C1_1=PU(28.3=77.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCTCAGGAGGAAGTGTGC
R:
ACCACACTGCTTACATTTCCCC
Band lengths:
133-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development