HsaEX0046941 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28910226-28911237:-
Coord C1 exon
chr17:28911112-28911237
Coord A exon
chr17:28910712-28910833
Coord C2 exon
chr17:28910226-28910369
Length
122 bp
Sequences
Splice sites
3' ss Seq
CGAGAACAAAATCACTTTAGGCA
3' ss Score
0.7
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
ATGGCAAGGTCAGCCCCGGCACGTTATCCATAGGAAGCGCTTTAACCGTACCCTCTTTCCCAGCCAACTCTACTGCCATGGTGGACCTCACCAACTCACTTCGAGCATTTATGGATGTCAATGGAG
Seq A exon
GCAGATCACCTGGATTTGCAGAATAAAACTAAGATCCTCACTCCCAAAGGAGGGACCTCATCTGTGGGAAACCCCCAAAGTCCAGGAGAACAGGGACAGATCTTGATCTCTGTGAACACAAG
Seq C2 exon
AAATCGAGATAAATATGCTGGACGAGAAGCTGATCAAGTTTCTGGCCTTGCAGAGAATACATCAGCTTTTCCCCTCCCGGGTCCAACCTTCACCGGGCAGTGTCGGGACACATCAGCTGGCTTCTGGAGGGCACCACATAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_MULTIEX2-6/10=5-7
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.379 A=1.000 C2=0.321
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATAGGAAGCGCTTTAACCGT
R:
TTCTATGTGGTGCCCTCCAGA
Band lengths:
242-364
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