Special

HsaEX0019724 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46537446-46539991:+
Coord C1 exon
chr21:46537446-46537539
Coord A exon
chr21:46538483-46538602
Coord C2 exon
chr21:46539877-46539991
Length
120 bp
Sequences
Splice sites
3' ss Seq
GTGCCATCCTCTCTCTGCAGCTC
3' ss Score
10.93
5' ss Seq
CGTGTGAGT
5' ss Score
7.42
Exon sequences
Seq C1 exon
AGCGTCATGAACAGGATGCACGTGGTCAGCGTCCCCTACGCGCTGATGAAGGCGAACCCACTCTCCTGGATCCAGAAAGTGTGCTTCTATAAAG
Seq A exon
CTCGGGCCGCGCTGGTGAAGTCGCGAGACATGCACTGGTCTCTCCTAGCTCAGCGGGGCCAGAGGGACGTCAGCCTCAGCTCACTGCGCATGCTGATTGTGGCCGATGGTGCCAACCCGT
Seq C2 exon
GGTCGATCTCCTCCTGTGACGCCTTCCTCAACGTCTTCCAGTCCAGAGGTCTGAGGCCAGAGGTCATCTGTCCTTGTGCAAGTTCTCCTGAGGCGCTGACTGTCGCCATCCGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.051
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(6.5=100)
A:
PF0050123=AMP-binding=FE(8.4=100)
C2:
PF0050123=AMP-binding=FE(8.0=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:
CGTCATGAACAGGATGCACGT
R:
CAGTCAGCGCCTCAGGAGAA
Band lengths:
194-314
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