HsaEX0019473 @ hg38
Exon Skipping
Gene
ENSG00000149091 | DGKZ
Description
diacylglycerol kinase zeta [Source:HGNC Symbol;Acc:HGNC:2857]
Coordinates
chr11:46368005-46369550:+
Coord C1 exon
chr11:46368005-46368079
Coord A exon
chr11:46368178-46368303
Coord C2 exon
chr11:46369494-46369550
Length
126 bp
Sequences
Splice sites
3' ss Seq
TTATACAAACGGCCTGCCAGGAG
3' ss Score
3.88
5' ss Seq
TGGGTTCGT
5' ss Score
0.72
Exon sequences
Seq C1 exon
AAGTCAGTGTCTCGAAGAAAGTGCGCAGCCTGCAAGATTGTGGTGCACACGCCCTGCATCGAGCAGCTGGAGAAG
Seq A exon
GAGTGACCCAGCACTCGGGGGTGAAGAGTCAAGGACCCTGGAGCCAAATGCCTGCGTTCGAATCCTGGCTCCTCACTGATTAGCTGCTGTATCCCCACTGCCTGGAACAAACCTGGCGCCTAGTGG
Seq C2 exon
ATAAATTTCCGCTGTAAGCCGTCCTTCCGTGAATCAGGCTCCAGGAATGTCCGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000149091_MULTIEX1-6/6=5-C2
Average complexity
C2
Mappability confidence:
94%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.056
Domain overlap (PFAM):
C1:
PF0013017=C1_1=FE(47.1=100)
A:
PF0013017=C1_1=PD(0.1=0.0)
C2:
PF0013017=C1_1=PU(0.1=0.0)
Main Inclusion Isoform:
ENST00000454345fB2056
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
AGTCAGTGTCTCGAAGAAAGTGC
R:
CTCGCGGACATTCCTGGAG
Band lengths:
131-257
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