Special

HsaEX0019736 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46560722-46563932:+
Coord C1 exon
chr21:46560722-46560783
Coord A exon
chr21:46561748-46561805
Coord C2 exon
chr21:46563858-46563932
Length
58 bp
Sequences
Splice sites
3' ss Seq
ATTGTTCCCTTAATTTTTAGGGT
3' ss Score
10.86
5' ss Seq
AAGGTAGTG
5' ss Score
5.56
Exon sequences
Seq C1 exon
GGCACAGCTGGCCCGGACCCCACAACCGTCTACGTGGACATGCGGGCACTGCGCCATGACAG
Seq A exon
GGTTCGTTTGGTAGAACGGGGTTCTCCGCACAGCCTGCCATTGATGGAGTCTGGAAAG
Seq C2 exon
ATCCTCCCCGGCGTGAAGGTCATCATCGCACACACCGAGACCAAAGGACCCTTGGGAGACTCACACCTGGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305-'84-89,'84-83,85-89
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.012 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(4.2=100)
A:
PF0050123=AMP-binding=FE(4.0=100)
C2:
PF0050123=AMP-binding=FE(5.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
CGGACCCCACAACCGTCTA
R:
CTCTCCCAGGTGTGAGTCTCC
Band lengths:
124-182
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