HsaINT0123884 @ hg38
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28906856-28907672:-
Coord C1 exon
chr17:28907590-28907672
Coord A exon
chr17:28906995-28907589
Coord C2 exon
chr17:28906856-28906994
Length
595 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
TCTCCCCTCCTCCTCCTCAGAAT
3' ss Score
10.53
Exon sequences
Seq C1 exon
GAGCTGACATGGATGTGTGCCTTACAAACTATGGTCACTGTAACTACGTGTCCGGGAAACATGCCTGCATATTCTACGATGAG
Seq A exon
GTGAGGGCCGGAGATGCGGTGGGAGGGAGCTTTCCCAACCTGAGGCCTCTCCCAGGCAGTAGGTTTTTGTTCAGTGCCCTGAGGGGAGGGAAGAGGGATTGGGGGTCCTCTCTTTTTCTTCCCTCCCTGTCATTCCTGGAGGAGGAGAGTCTTGATGTGAAATAGCATCCTACCTGGGAAGCTACCTGCTTCCCAGGAGCAGGGCTACCATTTTTCCTGAGGTTAGTCACAGGCACAACAGAGGGAGCCTACCCTAAAGCAAGGGAGGGGACCAGCATAGAAGGAAGCCAAGCCTTGTGGGTGTGTCCCTGTGAATTTCATTATCATCACGGGCCAGTGAGTATCATACCAAGAGGAGCGGTGCTGAGAGGGCAGAGTGAAGGAGTGGGAGAGTAGGGAGTGTGGGACACCAGAAGGAAAGCTTCCCTGAGGAGGTGTCTCCAGCCCCCTTCTGAAAGGACAGGGGCCATGACTGGGGAGGCAAGTAAGGACTCTCTAGGTAGAGTAGCACGGCCTTCTCCATATGTCCTCTCTCCCCTTAGCCCCAGGCCCCACACAGCAGACCACACATCTTATCTCCCCTCCTCCTCCTCAG
Seq C2 exon
AATACCAAACATTATGAGCTGTTAAACTACAGTGAGCATGGGACAACGGTGGACAATGTGCTGTATTCATGTGACTTCTCGGAGAAGACCCCGCCAACCCCCCCAAGCAGTATTGTTGCCAAAGTGCAGAGTGTCATCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118:ENST00000332830:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.067 A=NA C2=0.170
Domain overlap (PFAM):
C1:
PF0049821=FHA=FE(41.5=100)
A:
NA
C2:
PF0049821=FHA=PD(47.7=66.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCTGACATGGATGTGTGCC
R:
TGATGACACTCTGCACTTTGGC
Band lengths:
222-817
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development