HsaEX0073258 @ hg38
Exon Skipping
Gene
ENSG00000198169 | ZNF251
Description
zinc finger protein 251 [Source:HGNC Symbol;Acc:HGNC:13045]
Coordinates
chr8:144754192-144755605:-
Coord C1 exon
chr8:144755405-144755605
Coord A exon
chr8:144754696-144754803
Coord C2 exon
chr8:144754192-144754321
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTGAGTTCTCCCCACTGAAGGTA
3' ss Score
5.58
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GCGTTCTCGGAGGCGTACTGAGGCCCCGCAGGGGGCGGGGAAGCCTGCGTGTGCGCAGCTCGGCCCGGCCCGCCCTCTTCATCCTAGCCCGCCCCCTCCCCGGCTCTGGACCCGGTTCTGTGGGAGGGTCCGTTCCGGGCTCGGTGCGACTGCGCAGCTCCTCGGCGCTTCCTCGGTGGCTTCCCCGGGTCGAGCAAACAG
Seq A exon
GTAAGTTCGGGGAGACTTCAGGCCAGGGCAGTCTCCTGTCTTCTCTTGGAAACCACAGCAGCCCATGCACACAGAATGGCAGCCACATTCCAGCTTCCAGGGCACCAG
Seq C2 exon
GAGATGCCGCTGACCTTCCAGGATGTGGCCGTGTACTTCTCTCAGGCGGAGGGGCGGCAGCTGGGCCCCCAGCAGCGGGCGCTCTACCGGGATGTGATGCTGGAGAACTATGGGAACGTGGCCTCTCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198169_MULTIEX1-1/6=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.025 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0135222=KRAB=PU(95.1=88.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
TTCTCGGAGGCGTACTGAGG
R:
CCTCCGCCTGAGAGAAGTACA
Band lengths:
250-358
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
- Autistic and control brains
- Pre-implantation embryo development