HsaEX0019738 @ hg38
Exon Skipping
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46555982-46557069:+
Coord C1 exon
chr21:46555982-46556091
Coord A exon
chr21:46556403-46556500
Coord C2 exon
chr21:46556939-46557069
Length
98 bp
Sequences
Splice sites
3' ss Seq
GCTCAATTAAAATTTTTCAGGCG
3' ss Score
4.83
5' ss Seq
GTGGTGAAA
5' ss Score
-1.77
Exon sequences
Seq C1 exon
ATGACATCCCAAAAAAGAAGATAGCAAGCGTTTTCAGGCCCCCCTCCCCCGATGTCCTCGCATACTTGGACTTCAGCGTGTCAACCACTGGGATATTAGCGGGAGTGAAG
Seq A exon
GCGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACAAGATCAAGAGATGGAGACCATCCTGGCCAACGTG
Seq C2 exon
ATGTCGCACGCGGCCACAAGCGCCTTATGCCGCTCCATAAAGCTGCAGTGTGAGCTGTACCCCTCGCGGCAGATCGCCATCTGCCTCGACCCCTACTGTGGCCTTGGTTTTGCCCTGTGGTGTCTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_MULTIEX1-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
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=PD(0.1=0.0)
C2:
PF0050123=AMP-binding=FE(9.1=100)
Main Inclusion Isoform:
ENST00000400274fB2081
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCATACTTGGACTTCAGCGT
R:
CACAGACACCACAGGGCAAAA
Band lengths:
180-278
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