Special

HsaEX0019723 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46534585-46537539:+
Coord C1 exon
chr21:46534585-46534687
Coord A exon
chr21:46537224-46537288
Coord C2 exon
chr21:46537446-46537539
Length
65 bp
Sequences
Splice sites
3' ss Seq
CCTTCTTTGTCCACTTGCAGCTG
3' ss Score
11.32
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
TATAAAACCAGCAAAGAAGGCAGTACGGTGGGGGTCACAGTGTCCCACGCATCCCTGCTGGCACAGTGCCGGGCTCTGACCCAGGCGTGCGGGTACTCAGAAG
Seq A exon
CTGAAACATTAACAAACGTGCTGGATTTCAAAAGGGATGCTGGTCTGTGGCATGGCGTGTTAACA
Seq C2 exon
AGCGTCATGAACAGGATGCACGTGGTCAGCGTCCCCTACGCGCTGATGAAGGCGAACCCACTCTCCTGGATCCAGAAAGTGTGCTTCTATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305-'31-37,'31-36,35-37
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(7.1=100)
A:
PF0050123=AMP-binding=FE(4.4=100)
C2:
PF0050123=AMP-binding=FE(6.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAAAGAAGGCAGTACGGTG
R:
CTGGATCCAGGAGAGTGGGTT
Band lengths:
169-234
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