HsaEX0046950 @ hg19
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:20816]
Coordinates
chr17:27250927-27254081:-
Coord C1 exon
chr17:27254009-27254081
Coord A exon
chr17:27253800-27253891
Coord C2 exon
chr17:27250927-27251320
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
AAACGAGAGCAGAAAAAGGAGCTGGGTCATGTCAATGGACTGGTGGACAAATCTGGCAAACGGACTACATCCCCCAGCAGTGACACTGACTTGTTGGACAGATCGGCCAGCAAAACTGAACTAAAGGCCATTGCCCATGCCCGGATCCTGGAAAGGAGAGCCAGCAGGCCTGGCACACCCACATCCAGCGCCAGCACAGAGACTCCCACCTCTGAGCAGAATGATGTCGACGAAGACATCATTGACGTGGATGAGGAACCAGTAGCAGCGGAGCCAGACTATGTGCAGCCCCAGCTGAGGCGGCCCTTTGAGCTGCTGATTGCTGCCGCCATGGAGCGGAACCCCACCCAATTTCAGTTGCCCAATGAACTGACTTGTACCACTGCACTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_MULTIEX2-3/6=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.080 A=0.400 C2=0.774
Domain overlap (PFAM):
C1:
PF0062824=PHD=PD(45.8=88.0)
A:
NO
C2:
PF057218=PhyH=PU(23.4=84.6)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
CCTCCTGGAGAGTGGATGTGT
R:
AGTTCAGTTTTGCTGGCCGAT
Band lengths:
167-259
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
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)