Special

MmuEX0006307 @ mm9

Exon Skipping

Gene
Description
armadillo repeat gene deleted in velo-cardio-facial syndrome [Source:MGI Symbol;Acc:MGI:109620]
Coordinates
chr16:18400178-18401731:+
Coord C1 exon
chr16:18400178-18400346
Coord A exon
chr16:18400874-18400891
Coord C2 exon
chr16:18401660-18401731
Length
18 bp
Sequences
Splice sites
3' ss Seq
TGCTTCCTCCGGCCGCCCAGAGG
3' ss Score
3.09
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TCAGTAGAGAACTGTGTGTGCATCATGCGGAACCTGTCCTACCACGTGCACAAAGAAGTTCCAGGGGCTGACAGGTACCAGGAGGCAGAGCCTGGGATCCCGGGCAGCACAACCTCCCAGCGACGGAGGAAGGATGACGCCAGCTGCTTTGGTGGCAAGAAAGCAAAAG
Seq A exon
AGGAGTGGTTCCATCAAG
Seq C2 exon
GGAAGAAGGATGCAGAGATGGACCGGAACTTTGACACACTGGACCTGCCTAAACGAACGGAGGCTGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000000325_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.542 A=0.286 C2=0.263
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF136461=HEAT_2=PU(12.9=48.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCGACGGAGGAAGGATGA
R:
CTCCGTTCGTTTAGGCAGGTC
Band lengths:
114-132
Functional annotations
There are 1 annotated functions for this event
PMID: 24644279
All four isoforms co-immunoprecipitate with p68. There is an alternative promoter (N-term) and an NLS (HsaEX0006131).


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Pre-implantation embryo development
  • Neural differentiation time course
  • Muscular differentiation time course
  • Spermatogenesis cell types
  • Reprogramming of fibroblasts to iPSCs
  • Hematopoietic precursors and cell types