HsaEX0046946 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28907590-28910369:-
Coord C1 exon
chr17:28910226-28910369
Coord A exon
chr17:28908783-28908881
Coord C2 exon
chr17:28907590-28907672
Length
99 bp
Sequences
Splice sites
3' ss Seq
TTCCTATGTTTGTCTTGTAGTGC
3' ss Score
8.82
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
AAATCGAGATAAATATGCTGGACGAGAAGCTGATCAAGTTTCTGGCCTTGCAGAGAATACATCAGCTTTTCCCCTCCCGGGTCCAACCTTCACCGGGCAGTGTCGGGACACATCAGCTGGCTTCTGGAGGGCACCACATAGAAG
Seq A exon
TGCAAAGAAAGGAGGTACAGGCCCGAGCTGTGTTCTACCCCCTCTTAGGGTTGGGAGGAGCTGTGAACATGTGCTATCGAACCCTCTACATCGGGACAG
Seq C2 exon
GAGCTGACATGGATGTGTGCCTTACAAACTATGGTCACTGTAACTACGTGTCCGGGAAACATGCCTGCATATTCTACGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_MULTIEX2-8/10=7-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.321 A=0.239 C2=0.067
Domain overlap (PFAM):
C1:
NO
A:
PF0049821=FHA=PU(7.7=14.7)
C2:
PF0049821=FHA=FE(41.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAAGTTTCTGGCCTTGCAGA
R:
ATATGCAGGCATGTTTCCCGG
Band lengths:
183-282
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