HsaEX0015444 @ hg38
Exon Skipping
Gene
ENSG00000148337 | CIZ1
Description
CDKN1A interacting zinc finger protein 1 [Source:HGNC Symbol;Acc:HGNC:16744]
Coordinates
chr9:128185547-128190444:-
Coord C1 exon
chr9:128190329-128190444
Coord A exon
chr9:128187863-128187934
Coord C2 exon
chr9:128185547-128185776
Length
72 bp
Sequences
Splice sites
3' ss Seq
GCCGAATTGCTTTCCTAAAGGAC
3' ss Score
4.75
5' ss Seq
TGGGTATTA
5' ss Score
1.91
Exon sequences
Seq C1 exon
GGGGCTCCCCCCGCAGCAGCCACAGCAGCCGCTTCTGAATCTCCAGGGCACCAACTCAGCCTCCCTCCTCAACGGCTCCATGCTGCAGAGAGCTTTGCTTTTACAGCAGTTGCAAG
Seq A exon
GACTGGACCAGTTTGCAATGCCACCAGCCACGTATGACACTGCCGGTCTCACCATGCCCACAGCAACACTGG
Seq C2 exon
GTAACCTCCGAGGCTATGGCATGGCATCCCCAGGCCTCGCAGCCCCCAGCCTCACACCCCCACAACTGGCCACTCCAAATTTGCAACAGTTCTTTCCCCAGGCCACTCGCCAGTCCTTGCTGGGACCTCCTCCTGTTGGGGTCCCCATGAACCCTTCCCAGTTCAACCTTTCAGGACGGAACCCCCAGAAACAGGCCCGGACCTCCTCCTCTACCACCCCCAATCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148337-'23-55,'23-52,24-55
Average complexity
S
Mappability confidence:
89%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.509 A=0.784 C2=0.998
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
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:
CAACTCAGCCTCCCTCCTCAA
R:
CCTGGGGAAAGAACTGTTGCA
Band lengths:
167-239
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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