HsaEX0046950 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28925684-28927063:-
Coord C1 exon
chr17:28926991-28927063
Coord A exon
chr17:28926782-28926873
Coord C2 exon
chr17:28925684-28925784
Length
92 bp
Sequences
Splice sites
3' ss Seq
CTTCTTCTTGTCTCTTCCAGCCC
3' ss Score
11.39
5' ss Seq
GAGGTGTGT
5' ss Score
6.14
Exon sequences
Seq C1 exon
TAACCCTCCACTGAGTGAAGAAATGTTGCCTCCTGGAGAGTGGATGTGTCACCGGTGCACTGTTCGCCGAAAG
Seq A exon
CCCTGGAATCACCCCACTCTTCCCATGGTGACTGTTTGGAATCCAGTAGGGCCTAAAAATCCAAACATGGGCTGCTGAAATGGGCAGAAGAG
Seq C2 exon
CCATAGATGGATACCGAATGCTGGCCGTAGGTTTCCATTTTAGAAAGGAAGAAACGGAGGCTCAAAAATGTAGATTAACTTTCCCAAGGACTCAAAGGTAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118-'21-23,'21-21,22-23
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.166 A=0.400 C2=NA
Domain overlap (PFAM):
C1:
PF0062824=PHD=PD(45.8=88.0)
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
ACCCTCCACTGAGTGAAGAAA
R:
ACCTTTGAGTCCTTGGGAAAGT
Band lengths:
170-262
Functional annotations
There are 0 annotated functions for this event
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