Special

HsaEX0021000 @ hg19

Exon Skipping

Gene
Description
Down syndrome cell adhesion molecule [Source:HGNC Symbol;Acc:3039]
Coordinates
chr21:41514485-41539215:-
Coord C1 exon
chr21:41539145-41539215
Coord A exon
chr21:41516418-41516658
Coord C2 exon
chr21:41514485-41514631
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-'18-22,'18-21,20-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.583 A=0.148 C2=0.140
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:
NA


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