HsaEX0019735 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46498582-46509376:+
Coord C1 exon
chr21:46498582-46498833
Coord A exon
chr21:46504361-46504489
Coord C2 exon
chr21:46509257-46509376
Length
129 bp
Sequences
Splice sites
3' ss Seq
GGTGTGTTTTTCAAAAGCAGATC
3' ss Score
4.53
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
ACACGTCGTCTGCCTCAGAAGATGAGGGCTCTTTACGGCGACCCGGGCGACTCACCTCCACTCCGCTCCAGAGCCATTCCAGCGTCGAGCCCTGGCTCGACCGGGTCATTCAGGGCTCGTCCACCTCATCCTCTGCATCCTCCACCTCATCTCACCCGGGAGGGAGACCCACCACTGCTCCCAGTGCTGCAGCCACGCCGGGGGCCGCCGCTACCACTGCACTCGCAGGCCTCGAGGCCCACACCCACATAG
Seq A exon
ATCTGCATTCTGCCCCTCCTGATGTCACCACGGGCCTCGTGGAGCATTCGTACTTTGAGCGTCCACAGGTGGCTTCTGTGAGAAGTGTTCCTCGGGGGTGCAGCGGGAGCATGCTGGAAACAGCAGATG
Seq C2 exon
GTGTCCCTGTGAACAGCAGAGTGTCCTCCAAAATCCAGCAGCTTCTGAACACCCTGAAGAGGCCAAAGCGCCCTCCACTGAAGGAGTTCTTTGTGGATGATTTTGAGGAATTGTTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_MULTIEX4-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.997 A=0.984 C2=0.539
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGATGAGGGCTCTTTACGGC
R:
CTCTGCTGTTCACAGGGACAC
Band lengths:
255-384
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