HsaEX0046949 @ hg19
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:20816]
Coordinates
chr17:27250927-27277264:-
Coord C1 exon
chr17:27277083-27277264
Coord A exon
chr17:27254009-27254081
Coord C2 exon
chr17:27250927-27251320
Length
73 bp
Sequences
Splice sites
3' ss Seq
CCCTTGTCTGTTCCCCACAGTAA
3' ss Score
9.63
5' ss Seq
AAGGTAATA
5' ss Score
8.49
Exon sequences
Seq C1 exon
CAAATCCAAGCTCTGCTGGCTCCCCCCAAGACGGACGAGGCAGAAAAGCGCAGTCGGAAGCCTGAGAAGGAGCCCCGGAGAAGCGGCAGGGCCACCAACCACGACAGCTGCGATAGCTGCAAGGAAGGTGGAGATCTCCTGTGCTGCGACCACTGCCCGGCTGCCTTCCACCTCCAGTGCTG
Seq A exon
TAACCCTCCACTGAGTGAAGAAATGTTGCCTCCTGGAGAGTGGATGTGTCACCGGTGCACTGTTCGCCGAAAG
Seq C2 exon
AAACGAGAGCAGAAAAAGGAGCTGGGTCATGTCAATGGACTGGTGGACAAATCTGGCAAACGGACTACATCCCCCAGCAGTGACACTGACTTGTTGGACAGATCGGCCAGCAAAACTGAACTAAAGGCCATTGCCCATGCCCGGATCCTGGAAAGGAGAGCCAGCAGGCCTGGCACACCCACATCCAGCGCCAGCACAGAGACTCCCACCTCTGAGCAGAATGATGTCGACGAAGACATCATTGACGTGGATGAGGAACCAGTAGCAGCGGAGCCAGACTATGTGCAGCCCCAGCTGAGGCGGCCCTTTGAGCTGCTGATTGCTGCCGCCATGGAGCGGAACCCCACCCAATTTCAGTTGCCCAATGAACTGACTTGTACCACTGCACTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_MULTIEX2-2/6=C1-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.567 A=0.080 C2=0.774
Domain overlap (PFAM):
C1:
PF137711=zf-HC5HC2H=PU(95.2=96.7),PF144461=Prok-RING_1=PU(91.2=50.8)
A:
PF0062824=PHD=PD(45.8=88.0)
C2:
PF057218=PhyH=PU(23.4=84.6)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCGGAAGCCTGAGAAGGAG
R:
CCATTGACATGACCCAGCTCC
Band lengths:
169-242
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)