HsaEX0019733 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46558223-46560783:+
Coord C1 exon
chr21:46558223-46558393
Coord A exon
chr21:46559834-46559863
Coord C2 exon
chr21:46560722-46560783
Length
30 bp
Sequences
Splice sites
3' ss Seq
GCCTCCTTGGCCTCTGTCAGCCC
3' ss Score
3.5
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
ATGAAGGGGGTGAACCTGTCATGTGTGCGCACGTGCATGGTGGTCGCCGAGGAGCGGCCCAGGATTGCGCTGACCCAGTCCTTCTCCAAGCTCTTCAAGGACCTGGGCCTGCCGGCCCGCGCCGTAAGCACCACGTTCGGGTGCAGGGTCAACGTGGCCATCTGCCTCCAG
Seq A exon
CCCAACAGGCTGGGAAAGCTGGCTGAGCAG
Seq C2 exon
GGCACAGCTGGCCCGGACCCCACAACCGTCTACGTGGACATGCGGGCACTGCGCCATGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.200 C2=0.012
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(11.8=100)
A:
PF0050123=AMP-binding=FE(1.9=100)
C2:
PF0050123=AMP-binding=FE(4.2=100)
Main Inclusion Isoform:
ENST00000400274fB2080
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGCTCTTCAAGGACCTGGG
R:
GCATGTCCACGTAGACGGTTG
Band lengths:
128-158
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