HsaEX0046923 @ hg38
Exon Skipping
Gene
ENSG00000112511 | PHF1
Description
PHD finger protein 1 [Source:HGNC Symbol;Acc:HGNC:8919]
Coordinates
chr6:33414725-33415329:+
Coord C1 exon
chr6:33414725-33414829
Coord A exon
chr6:33414955-33415144
Coord C2 exon
chr6:33415235-33415329
Length
190 bp
Sequences
Splice sites
3' ss Seq
GATAAGGAGGCCTCTTACAGCTT
3' ss Score
-3.87
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
TTTCATTTCAGGGAGAGAGATTAAGAAGAGGAAATGTTTGTTTGGTCTCCATGCTCGGATGCCTCCCCCTGTGGAGCCCCCTACTGGAGATGGAGCACTCACCAG
Seq A exon
CTTCCCTTCAGGGCAGGGCCCTGGGGGAGGGGTCTCACGTCCCCTGGGGAAGCGCCGGAGGCCGGAGCCAGAGCCCCTGAGGAGGAGGCAGAAGGGGAAAGTGGAGGAGCTGGGGCCACCCTCAGCAGTGCGCAATCAGCCCGAGCCCCAGGAGCAGAGGGAGCGGGCTCATCTGCAGAGGGCACTGCAG
Seq C2 exon
GCCTCAGTGTCTCCACCATCCCCCAGCCCTAACCAGAGTTACCAGGGCAGCAGCGGCTACAACTTCCGGCCCACAGATGCCCGCTGCCTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000112511_MULTIEX1-1/3=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.500 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCATTTCAGGGAGAGAGATTAAGA
R:
GGCATCTGTGGGCCGGAA
Band lengths:
186-376
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