HsaEX0019075 @ hg38
Exon Skipping
Gene
ENSG00000140995 | DEF8
Description
differentially expressed in FDCP 8 homolog [Source:HGNC Symbol;Acc:HGNC:25969]
Coordinates
chr16:89949565-89955266:+
Coord C1 exon
chr16:89949565-89949638
Coord A exon
chr16:89954243-89954376
Coord C2 exon
chr16:89955169-89955266
Length
134 bp
Sequences
Splice sites
3' ss Seq
TGGCCCTGCCTGGCCCTCAGGTG
3' ss Score
8.44
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GTTCTCGGGGTGGCAGCTGCAGTGATGACACCGCTTCCTGGTGGTCACGCCGCGGGCAGGACGCGGGAGGCCAG
Seq A exon
GTGGGATGCTATGGAATATGATGAGAAGCTGGCCCGTTTCCGGCAGGCCCACCTCAACCCCTTCAACAAGCAGTCTGGGCCGAGACAGCATGAGCAGGGCCCTGGGGAGGAGGTCCCGGACGTCACTCCTGAAG
Seq C2 exon
AGGCCCTGCCTGAGCTGCCCCCTGGGGAGCCGGAATTCCGCTGCCCTGAACGCGTGATGGATCTCGGCCTGTCTGAGGACCACTTCTCCCGCCCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140995-'3-12,'3-10,11-12
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.797 A=0.748 C2=0.565
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCTCGGGGTGGCAGCT
R:
CAGGGCGGGAGAAGTGGTC
Band lengths:
170-304
Functional annotations
There are 0 annotated functions for this event
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