Special

HsaEX6063415 @ hg38

Exon Skipping

Gene
ENSG00000179058 | C9orf50
Description
chromosome 9 open reading frame 50 [Source:HGNC Symbol;Acc:HGNC:23677]
Coordinates
chr9:129619520-129620776:-
Coord C1 exon
chr9:129620067-129620776
Coord A exon
chr9:129619740-129619830
Coord C2 exon
chr9:129619520-129619636
Length
91 bp
Sequences
Splice sites
3' ss Seq
CTGTTTCCTCCTGGCTCCAGCAT
3' ss Score
7.25
5' ss Seq
GTGGTAAGC
5' ss Score
8.15
Exon sequences
Seq C1 exon
GCGTCGACTTCGCCCAGGGGCCCAGGACCTGGCGCCCAAGGGGCTCCCTGGCGACGGAGACTTCCGACGCAGCAGCGACCCGCGGCTGCCCAAGCTGACCCCGCCCGCGCTCCGAGCGGCTCTGGGCGCGCGGGGCTCCGGGGACTGGAGGATCCCGGGGGGCGGCGCCGCGTGGTGGCCGGAAGGGGACGCCAAGCCCGGGGTGGGCGTCGGACGCCTCCCGCCGCGCCTGCCCGCCTTGCTCACCGCGACCCGGCGGGCCGTGCGGAAGCGGGGGCTGCTGCGGTCCCTGCTGCCGCCTCCCCTGCTGTCGGCCGGCGCGTCCCGGGAATCGGCGCCCAGGCAGCCAGGGCCTGGAGAGCGCGAGCGCCCCCGGAGGCGCGTGGCCAGGGAGGACCCCGACTTCTTGGGCGCCTTCCTAGGAGAGCTCCTCCCCAGCAGGTTCCGTGAGTTCCTGCACCAGCTCCAGGAGAAGTGCGCCGAGGAGCCGGAGCCACTGA
Seq A exon
CATCCCCAGCACCGCAACATCAAAGGGGTGTATTAGAGCACTGCCCAGGGTCTCCGCGGTGTCCCAACTGTTCATTCCTCCCAGACCTGTG
Seq C2 exon
GGGCCAGTCATCGCACCTCCAGGATAGTCTTACGAAGATTTCGCTCCAGCAGACACCTATTCTGGGGCCCCTGAAGGGTGATCACTCACAATTCACCACTGTCAGAAAGGCCAACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179058-'1-1,'1-0,2-1
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.606 A=0.484 C2=0.750
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAGTTCCTGCACCAGCTC
R:
GTTGGCCTTTCTGACAGTGGT
Band lengths:
169-260
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains