HsaEX0019734 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46496988-46504489:+
Coord C1 exon
chr21:46496988-46497107
Coord A exon
chr21:46498582-46498833
Coord C2 exon
chr21:46504361-46504489
Length
252 bp
Sequences
Splice sites
3' ss Seq
CATCGTTATTTTAACCACAGACA
3' ss Score
6.65
5' ss Seq
TAGGTCAGT
5' ss Score
6.39
Exon sequences
Seq C1 exon
ATGTCCACACTGAAGCCGTGCAAGCAGCTTTGGCCAAATACAAAGAGAGGAAGATGCCTATGCCTTCGAAGAGACGTTCTGTCCTTGTGCATTCGTCTGTGGAAACCTACACCCCTCCAG
Seq A exon
ACACGTCGTCTGCCTCAGAAGATGAGGGCTCTTTACGGCGACCCGGGCGACTCACCTCCACTCCGCTCCAGAGCCATTCCAGCGTCGAGCCCTGGCTCGACCGGGTCATTCAGGGCTCGTCCACCTCATCCTCTGCATCCTCCACCTCATCTCACCCGGGAGGGAGACCCACCACTGCTCCCAGTGCTGCAGCCACGCCGGGGGCCGCCGCTACCACTGCACTCGCAGGCCTCGAGGCCCACACCCACATAG
Seq C2 exon
ATCTGCATTCTGCCCCTCCTGATGTCACCACGGGCCTCGTGGAGCATTCGTACTTTGAGCGTCCACAGGTGGCTTCTGTGAGAAGTGTTCCTCGGGGGTGCAGCGGGAGCATGCTGGAAACAGCAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_MULTIEX4-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.976 A=0.997 C2=0.984
Domain overlap (PFAM):
C1:
PF064646=DMAP_binding=PD(24.3=68.3)
A:
NO
C2:
NO
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:
ATGTCCACACTGAAGCCGTG
R:
CTGTTTCCAGCATGCTCCCG
Band lengths:
243-495
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