HsaEX0019739 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46555982-46557753:+
Coord C1 exon
chr21:46555982-46556091
Coord A exon
chr21:46556939-46557069
Coord C2 exon
chr21:46557585-46557753
Length
131 bp
Sequences
Splice sites
3' ss Seq
AACTTTATTTTACTCTTAAGATG
3' ss Score
4.86
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
ATGACATCCCAAAAAAGAAGATAGCAAGCGTTTTCAGGCCCCCCTCCCCCGATGTCCTCGCATACTTGGACTTCAGCGTGTCAACCACTGGGATATTAGCGGGAGTGAAG
Seq A exon
ATGTCGCACGCGGCCACAAGCGCCTTATGCCGCTCCATAAAGCTGCAGTGTGAGCTGTACCCCTCGCGGCAGATCGCCATCTGCCTCGACCCCTACTGTGGCCTTGGTTTTGCCCTGTGGTGTCTGTGCAG
Seq C2 exon
TGTCTACTCGGGACACCAATCAGTGCTGGTGCCCCCGCTGGAGCTGGAGAGCAACGTGTCCCTGTGGCTGTCGGCCGTCAGCCAGTACAAGGCCCGCGTCACCTTCTGCTCCTACTCTGTGATGGAGATGTGCACCAAGGGCCTAGGCGCACAGACGGGTGTCCTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(20.3=100)
A:
PF0050123=AMP-binding=FE(9.1=100)
C2:
PF0050123=AMP-binding=FE(11.8=100)
Main Skipping Isoform:
ENST00000400274fB2081
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATAGCAAGCGTTTTCAGGCCC
R:
CTGAGGACACCCGTCTGTGC
Band lengths:
258-389
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