HsaEX0046924 @ hg19
Exon Skipping
Gene
ENSG00000112511 | PHF1
Description
PHD finger protein 1 [Source:HGNC Symbol;Acc:8919]
Coordinates
chr6:33382732-33383447:+
Coord C1 exon
chr6:33382732-33382921
Coord A exon
chr6:33383012-33383106
Coord C2 exon
chr6:33383367-33383447
Length
95 bp
Sequences
Splice sites
3' ss Seq
TCCTTTGCCCCCTCTTCTAGGCC
3' ss Score
12.32
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
CTTCCCTTCAGGGCAGGGCCCTGGGGGAGGGGTCTCACGTCCCCTGGGGAAGCGCCGGAGGCCGGAGCCAGAGCCCCTGAGGAGGAGGCAGAAGGGGAAAGTGGAGGAGCTGGGGCCACCCTCAGCAGTGCGCAATCAGCCCGAGCCCCAGGAGCAGAGGGAGCGGGCTCATCTGCAGAGGGCACTGCAG
Seq A exon
GCCTCAGTGTCTCCACCATCCCCCAGCCCTAACCAGAGTTACCAGGGCAGCAGCGGCTACAACTTCCGGCCCACAGATGCCCGCTGCCTGCCCAG
Seq C2 exon
CAGCCCCATCCGGATGTTTGCTTCCTTCCACCCTTCTGCCAGCACCGCAGGGACCTCTGGGGACAGTGGACCCCCAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000112511_MULTIEX1-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.973 A=0.963 C2=0.988
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGGGGAAAGTGGAGGAGCT
R:
GTCCACTGTCCCCAGAGGTC
Band lengths:
171-266
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)