HsaEX0046949 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28923909-28950246:-
Coord C1 exon
chr17:28950065-28950246
Coord A exon
chr17:28926991-28927063
Coord C2 exon
chr17:28923909-28924302
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_MULTIEX1-4/9=2-7
Average complexity
C1
Mappability confidence:
86%=100=86%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.562 A=0.166 C2=0.808
Domain overlap (PFAM):
C1:
PF0062824=PHD=PU(52.1=41.0)
A:
PF0062824=PHD=PD(45.8=88.0)
C2:
NO
Main Skipping Isoform:
NA
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