HsaINT0123886 @ hg38
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28950065-28951771:-
Coord C1 exon
chr17:28950895-28951771
Coord A exon
chr17:28950247-28950894
Coord C2 exon
chr17:28950065-28950246
Length
648 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
3' ss Seq
CCGTTTGTATGTGTGTGCAGCAA
3' ss Score
7.58
Exon sequences
Seq C1 exon
CTTAGTTTGCACACAAACACCAATGGATGAACAGTCCCTAGCTTCCTGCGGCTGCGCCTTGACCCCTACAAGCTTTCTCAAGCGCCTGCGCGAGACCTCAGGTCCCGCCCTTTTGTCTCAGTGCGCTGGCGCAGGGCAGAAAGGTGGGGCTTCGGTCCTCCAGACGAATGCCAGCGCGGCTGCGCGCTGGGGGGTACTCCCTCACCGCGGCTGCGCGGGAGCCAGGCCGCCGGCTGTCACTGCGGTTGCGCGCGGCGAGCGCCGATCCCGGGGCGCCTGCGCGGGTGGCTTTGCGGGCGCTCGCGGTAAGTTTGCGCCAAGTGCGCGGCAGCCGGGACGCAGACGGCGGCGGCGGCGAGAGGCGGAGCCCGGGGACCACCCCCCATCACCCTCCCCCCAGTCACCTCACGTACCACAACCTCACGTAACCTCTCACCCCCCCTCCGATACCCCCAGCCCCGGGATGGCAGCGCCCGCCAGCCTTCCCGGCCGGACCGGCTGTCGCCAGTGCCGGCTTTAGCCTGTGGGACTAGGCCCCGCCGAGGCCTGACCCCCGGAGCCGGGACCCACTGTGCAGCCAGCAGCCGGGCCGGGACTGAGGGGCCGCTCCCCCCTCGCGGCCCGTCGGGAGGACGCTGTCGTCCCGGGGACTGGGGGCCGGGGGGTGGGGGGGAGCCAGGGCGAGGAAGTCGGGACCCGTATTGGGAAAAAAGCGGGGCCGGGGTCAGGAGCGCCCCCTCCCCTCACCTCCCCCCTCCCCCCGGGGTTGGGGGGGCCGGAGCAGAGAGCACCCAGCCCGGGAGGTGGATGAATGTGGGAGAAAATGGAGACCAAGACGATCGTGTACGACTTGGACACATCAGGGGGGCTGATGGAG
Seq A exon
GTAAGAGTGGCCCTCCTCATCTCCTTCCTCCAGCGCCGGGAGGGAACCTCCGCCCTCCGCCCCACAAAGCCAGTCCTAAACTCGAAGCGCCTAGATGGCCGAGGGAGGGGGATTCTTCCTCACCTAGCCTCTCCCTCCCCTCTTTGCAATTTAGGGGGCTGAGCTCAGCCTCCGAGGACGTTTGCAGCAGTTTCACCTACCCGCCGCCCTCGATTCGCTCTCCCGAGGCGCCAGCCCACTCCATCTCGTTGCACCGGCAGGCCTCCCCACCCCCTTCTTGTTGGCCCCTTTGTGCTTCCCCCAGCACGTCCGGGTACCGGGCTTTGGGCCTCTCCCGAGCGGGTCTTTGGAGTCCCCCACTGTCCATACAAGGAAGTGGCAAGAAGGGAACCGCGCACCCTCTTCCCATCCCCCTACCCTTGATCCTCCCCATTTGGAAGAAGCTGTTCTCGTTGTTGTGCTGCAGGAACGCGGTTAGGGTGGGCTCCCCCTGGTTCCGGGGGCTGAGAGATTCTGGGAGCAGCCTGGATGGGAGGAAGAAGGACAAAAGGGGGGAGAGGGGTGGGTGACGGAGAAACCGCGCCGGGGGGGCGACGGACCGCCCGGGAGCTCCGAGTGTGCACACACGCCGTTTGTATGTGTGTGCAG
Seq C2 exon
CAAATCCAAGCTCTGCTGGCTCCCCCCAAGACGGACGAGGCAGAAAAGCGCAGTCGGAAGCCTGAGAAGGAGCCCCGGAGAAGCGGCAGGGCCACCAACCACGACAGCTGCGATAGCTGCAAGGAAGGTGGAGATCTCCTGTGCTGCGACCACTGCCCGGCTGCCTTCCACCTCCAGTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118:ENST00000332830:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.088 A=NA C2=0.562
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0062824=PHD=PU(52.1=41.0)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCGGGACCCACTGTG
R:
GAGCCAGCAGAGCTTGGATTT
Band lengths:
343-991
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