DreEX6010954 @ danRer10
Exon Skipping
Gene
ENSDARG00000061688 | arvcfb
Description
armadillo repeat gene deleted in velocardiofacial syndrome b [Source:ZFIN;Acc:ZDB-GENE-060526-60]
Coordinates
chr5:25722522-25730172:-
Coord C1 exon
chr5:25730001-25730172
Coord A exon
chr5:25725731-25725748
Coord C2 exon
chr5:25722522-25722593
Length
18 bp
Sequences
Splice sites
3' ss Seq
CCTGCGTTGGCTAACTCTAGAGG
3' ss Score
4.27
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TCTGTGGAAAACTGTGTTTGCATCATGAGGAACCTGTCGTACCATGTACACAAGGAGGTTCCAGGAGCTGAGAAGTTTCAGGACCCGTCGGCTCTACAGGCCCCCGGCTCTGCTGGCACTCAGAGGAAGAAGAAAGATGATGCAGGCTGTTTCGGCGGAAAGAAAGCCAAAG
Seq A exon
AGGAATGGTTTAATCAAG
Seq C2 exon
GGAGGAAAAACGGAGAGCATGACAAAAACTATGACACGTTGGACCTCCCCAAGCGCACAGAGCCCACTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000061688-'23-28,'23-24,25-28=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.578 A=0.714 C2=0.600
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0051418=Arm=PU(2.5=4.0)
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGCACTCAGAGGAAGAAG
R:
GGGGAGGTCCAACGTGTCATA
Band lengths:
111-129
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]