HsaEX0046947 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28906856-28908881:-
Coord C1 exon
chr17:28908783-28908881
Coord A exon
chr17:28907590-28907672
Coord C2 exon
chr17:28906856-28906994
Length
83 bp
Sequences
Splice sites
3' ss Seq
CTACTCCTGCCACCTTGCAGGAG
3' ss Score
8.53
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
TGCAAAGAAAGGAGGTACAGGCCCGAGCTGTGTTCTACCCCCTCTTAGGGTTGGGAGGAGCTGTGAACATGTGCTATCGAACCCTCTACATCGGGACAG
Seq A exon
GAGCTGACATGGATGTGTGCCTTACAAACTATGGTCACTGTAACTACGTGTCCGGGAAACATGCCTGCATATTCTACGATGAG
Seq C2 exon
AATACCAAACATTATGAGCTGTTAAACTACAGTGAGCATGGGACAACGGTGGACAATGTGCTGTATTCATGTGACTTCTCGGAGAAGACCCCGCCAACCCCCCCAAGCAGTATTGTTGCCAAAGTGCAGAGTGTCATCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_MULTIEX2-9/10=8-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.239 A=0.067 C2=0.170
Domain overlap (PFAM):
C1:
PF0049821=FHA=PU(7.7=14.7)
A:
PF0049821=FHA=FE(41.5=100)
C2:
PF0049821=FHA=PD(47.7=66.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGAGGAGCTGTGAACATGTG
R:
TGACACTCTGCACTTTGGCAA
Band lengths:
183-266
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