HsaEX0011618 @ hg19
Exon Skipping
Gene
ENSG00000173611 | C9orf126
Description
suppressor of cancer cell invasion [Source:HGNC Symbol;Acc:26709]
Coordinates
chr9:127733950-127738465:-
Coord C1 exon
chr9:127738393-127738465
Coord A exon
chr9:127737526-127737668
Coord C2 exon
chr9:127733950-127734123
Length
143 bp
Sequences
Splice sites
3' ss Seq
ATCTCCCTAACTGTGAATAGTGC
3' ss Score
3.64
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
AATTTCACAAACTTGTTTGGACAGCCACTAGTCTGCTTGCTTTCTCCTACAGCATATCCAAAAGCTTTACAAG
Seq A exon
TGCTGATGTCTCTCTGTGGGAGATGGCATTTTACTGCTACTTCCCAGCCAGAAGTCCTGTCTGCTGACATAGTTTGACACAGGAAGTGATGGTCAGCATTTGAATGCCTGAGAGAAGCTGGAGGCTTTCACCGTTGTTTTAAG
Seq C2 exon
ATCAATCTCAGCGAGGTAGCCTCTTCACTCTCTTTTTGAACAATCCTCTAATGGCCTTCCTATTTGTCTCTGGATTGTCAAGCATGCGCAGAGGCCTATGGGAAAAGTGTCAAGAATATCTTCGAAAAATCAACCGTGATATTGCCCAGCTACTGACTCATTCACGTTCAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000173611_MULTIEX1-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF120703=DUF3550=PU(75.0=96.0)
A:
PF120703=DUF3550=PD(16.0=44.4)
C2:
PF120703=DUF3550=FE(11.7=100)


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCACAAACTTGTTTGGACAGCC
R:
TTGAACGTGAATGAGTCAGTAGCT
Band lengths:
242-385
Functional annotations
There are 1 annotated functions for this event
PMID: 31911676
This event
[CRISPR screen]. Conserved poison exon with negative fitness/survivability impact when depleted: HeLa Depleted at 14 days (FC=0.550, FDR=0.000), PC9 No Change at 14 days (FC=1.445, FDR=0.134), Late Xenograft No change (FC=0.990, FDR=0.084).
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)