Special

HsaEX6006742 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46541756-46545961:+
Coord C1 exon
chr21:46541756-46541895
Coord A exon
chr21:46545137-46545273
Coord C2 exon
chr21:46545881-46545961
Length
137 bp
Sequences
Splice sites
3' ss Seq
AGTTTTTTTTCTCATTTTAGCTA
3' ss Score
8.23
5' ss Seq
GAGGTTTGT
5' ss Score
6.36
Exon sequences
Seq C1 exon
GCCACCTGATCTGGGAGGACCACCTCCAAGAAAAGCAGTCCTGTCGATGAACGGTCTAAGTTATGGTGTTATCAGAGTGGATACTGAAGAAAAGTTGTCAGTCCTTACTGTTCAGGACGTTGGTCAGGTGATGCCTGGAG
Seq A exon
CTAATGTATGTGTTGTGAAGTTAGAAGGTACCCCTTATCTTTGTAAAACTGATGAAGTGGGAGAAATATGCGTCAGTTCCAGTGCAACTGGCACAGCGTACTATGGATTGCTTGGAATCACGAAGAATGTGTTTGAG
Seq C2 exon
GCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.104 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(10.2=100)
A:
PF0050123=AMP-binding=FE(9.4=100)
C2:
PF0050123=AMP-binding=FE(5.5=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:
CACCTGATCTGGGAGGACCAC
R:
AGGCCCGATGAAGCCCAG
Band lengths:
219-356
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains