Special

HsaEX0021000 @ hg38

Exon Skipping

Gene
Description
DS cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:3039]
Coordinates
chr21:40142558-40167288:-
Coord C1 exon
chr21:40167218-40167288
Coord A exon
chr21:40144491-40144731
Coord C2 exon
chr21:40142558-40142704
Length
241 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTCTCTCCTGTTTAGGCT
3' ss Score
11.1
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
Exon sequences
Seq C1 exon
CTCCTGATGGTCCACCTCAGGAAGTTCACCTGGAGCCTATATCATCTCAGAGCATCAGGGTCACATGGAAG
Seq A exon
GCTCCCAAGAAACATTTGCAAAATGGGATTATCCGTGGCTACCAAATAGGTTACCGAGAGTACAGCACTGGGGGTAACTTCCAATTCAACATTATCAGTGTCGACACCAGCGGGGACAGTGAGGTTTACACCCTGGACAACCTGAATAAGTTCACTCAGTACGGCCTGGTGGTGCAGGCCTGTAACCGGGCCGGCACGGGGCCTTCTTCTCAGGAAATCATCACCACCACTCTCGAGGATG
Seq C2 exon
TGCCCAGTTACCCCCCCGAAAATGTCCAAGCCATAGCAACATCACCAGAAAGCATATCAATATCCTGGTCCACACTTTCCAAGGAAGCCTTGAATGGAATTCTCCAGGGGTTCAGAGTCATTTACTGGGCCAACCTCATGGACGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587-'48-44,'48-43,50-44
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.592 A=0.142 C2=0.135
Domain overlap (PFAM):

C1:
PF0004116=fn3=PU(22.0=83.3)
A:
PF0004116=fn3=PD(75.8=85.2)
C2:
PF0004116=fn3=PU(52.3=92.0)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000400454fB14300


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTGATGGTCCACCTCAG
R:
TCCATGAGGTTGGCCCAGTAA
Band lengths:
213-454
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