HsaEX0019725 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46484757-46497107:+
Coord C1 exon
chr21:46484757-46484828
Coord A exon
chr21:46490600-46490719
Coord C2 exon
chr21:46496988-46497107
Length
120 bp
Sequences
Splice sites
3' ss Seq
CCCATAAAATTGTGTTTCAGGAA
3' ss Score
9.09
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GTGACATCACTCAAAAAGGATATGAAAAGAAAAGGGCAAAGCTGCTTGCACGTTATATACCGCTTATTCAAG
Seq A exon
GAATAGACCCATCTCTGCAAGCAGAGAATAGAATTCCTGGGCCCTCACAAACCACGGCCGCTGCACCCAAGCAGCAGAAGTCTCGGCCCACCGCCTCGAGGGATGAGCGCTTCCGGTCAG
Seq C2 exon
ATGTCCACACTGAAGCCGTGCAAGCAGCTTTGGCCAAATACAAAGAGAGGAAGATGCCTATGCCTTCGAAGAGACGTTCTGTCCTTGTGCATTCGTCTGTGGAAACCTACACCCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_MULTIEX6-2/3=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.167 A=0.911 C2=0.976
Domain overlap (PFAM):
C1:
PF064646=DMAP_binding=FE(20.9=100),PF051207=GvpG=FE(46.2=100)
A:
PF064646=DMAP_binding=FE(34.8=100),PF051207=GvpG=PD(11.5=14.6)
C2:
PF064646=DMAP_binding=PD(24.3=68.3)
Main Skipping Isoform:
ENST00000400274fB13803
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACATCACTCAAAAAGGATATGA
R:
CTGGAGGGGTGTAGGTTTCCA
Band lengths:
192-312
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development