Special

HsaEX0021002 @ hg38

Exon Skipping

Gene
Description
DS cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:3039]
Coordinates
chr21:40093721-40134009:-
Coord C1 exon
chr21:40133854-40134009
Coord A exon
chr21:40124195-40124328
Coord C2 exon
chr21:40093721-40093874
Length
134 bp
Sequences
Splice sites
3' ss Seq
TAAACACACGGCTCTTCCAGTTC
3' ss Score
3.88
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
AGCTGGGTGAGATTAAAAACATCACCACCACACAGCCTTCACTGGAGCTGGACGGGCTGGAAAAGTACACCAACTACAGCATCCAGGTGCTGGCCTTCACCCGCGCAGGAGACGGGGTCAGGAGTGAGCAGATCTTCACCCGGACCAAAGAGGATG
Seq A exon
TTCCAGGTCCTCCCGCGGGTGTGAAGGCAGCGGCGGCCTCAGCCTCCATGGTCTTTGTGTCCTGGCTTCCCCCTCTCAAGCTGAACGGCATCATCCGAAAGTACACTGTATTCTGCTCCCACCCCTATCCCACA
Seq C2 exon
GTGATCAGCGAGTTTGAGGCCTCTCCCGACTCGTTTTCCTACAGAATTCCCAACCTGAGTAGGAATCGTCAGTACAGCGTCTGGGTGGTGGCTGTTACTTCAGCCGGAAGAGGCAACAGCAGTGAAATCATCACAGTCGAGCCACTAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587-'52-50,'52-49,53-50
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.151 A=0.044 C2=0.000
Domain overlap (PFAM):

C1:
PF0004116=fn3=PD(46.6=77.4)
A:
PF0004116=fn3=PU(50.0=93.3)
C2:
PF0004116=fn3=PD(47.6=76.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGACGGGCTGGAAAAGTAC
R:
GCTAGTGGCTCGACTGTGATG
Band lengths:
258-392
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