HsaEX6006749 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46490600-46498833:+
Coord C1 exon
chr21:46490600-46490719
Coord A exon
chr21:46496988-46497107
Coord C2 exon
chr21:46498582-46498833
Length
120 bp
Sequences
Splice sites
3' ss Seq
CTGCTGTCCTTCCTGTGTAGATG
3' ss Score
10.43
5' ss Seq
CAGGTATTG
5' ss Score
8.35
Exon sequences
Seq C1 exon
GAATAGACCCATCTCTGCAAGCAGAGAATAGAATTCCTGGGCCCTCACAAACCACGGCCGCTGCACCCAAGCAGCAGAAGTCTCGGCCCACCGCCTCGAGGGATGAGCGCTTCCGGTCAG
Seq A exon
ATGTCCACACTGAAGCCGTGCAAGCAGCTTTGGCCAAATACAAAGAGAGGAAGATGCCTATGCCTTCGAAGAGACGTTCTGTCCTTGTGCATTCGTCTGTGGAAACCTACACCCCTCCAG
Seq C2 exon
ACACGTCGTCTGCCTCAGAAGATGAGGGCTCTTTACGGCGACCCGGGCGACTCACCTCCACTCCGCTCCAGAGCCATTCCAGCGTCGAGCCCTGGCTCGACCGGGTCATTCAGGGCTCGTCCACCTCATCCTCTGCATCCTCCACCTCATCTCACCCGGGAGGGAGACCCACCACTGCTCCCAGTGCTGCAGCCACGCCGGGGGCCGCCGCTACCACTGCACTCGCAGGCCTCGAGGCCCACACCCACATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305-'14-11,'14-10,16-11=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.911 A=0.976 C2=0.997
Domain overlap (PFAM):
C1:
PF064646=DMAP_binding=FE(34.8=100),PF051207=GvpG=PD(11.5=14.6)
A:
PF064646=DMAP_binding=PD(24.3=68.3)
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:
AATTCCTGGGCCCTCACAAAC
R:
GGGTGAGATGAGGTGGAGGAT
Band lengths:
246-366
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains