HsaEX6063418 @ hg38
Exon Skipping
Gene
ENSG00000179058 | C9orf50
Description
chromosome 9 open reading frame 50 [Source:HGNC Symbol;Acc:HGNC:23677]
Coordinates
chr9:129613107-129615647:-
Coord C1 exon
chr9:129615484-129615647
Coord A exon
chr9:129613435-129613597
Coord C2 exon
chr9:129613107-129613251
Length
163 bp
Sequences
Splice sites
3' ss Seq
CCCTGCCCTCTTTCCTGCAGTCC
3' ss Score
10.99
5' ss Seq
CCTGTGAGG
5' ss Score
3.69
Exon sequences
Seq C1 exon
CAGGCCCCACGGTGCACAGGTCCCCAGGCTCAAGGCTGCGCTGACCCACAACCCCTCGGGGGAAGGCTCTAGGCCCTGCAGGCAGCGTTGCCCTTTCCGGGTGCGATTCGCTGACGAGACCCTGCAGGACACAACGCTCCGCTACTGGGAGCGCAGACGCTCAG
Seq A exon
TCCAACAGAGCGTCATTGTGAACCAGAAGGCCGCCCTGCCAGTGGCGTCCGAGCGGGTGTTTGGGAGTGTCGGAAAACGGCTGGAGAGTTTGCCCAAAGCCCTGTACCCTGGGGCCAAGGAGGAGACCCTGGCCAGCTCCTCGTGTTGGGACTGCGCTGGCCT
Seq C2 exon
GTCCACCCAGAAGACACAGGGCTACCTTTCTGAGGACACCTCCATGAACAGCAGCCTGCCCTTCTGTTCATGGAAGAAGGCCGCTGCTCAGAGGCCGCGAAGCAGCCTCCGAGCCTTCTTGGACCCGCACAGAAACCTGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179058_MULTIEX1-2/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.455 A=0.000 C2=0.133
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGGGGGAAGGCTCTAGG
R:
GTTTCTGTGCGGGTCCAAGAA
Band lengths:
246-409
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains