HsaINT1026778 @ hg38
Intron Retention
Gene
ENSG00000112511 | PHF1
Description
PHD finger protein 1 [Source:HGNC Symbol;Acc:HGNC:8919]
Coordinates
chr6:33412698-33413296:+
Coord C1 exon
chr6:33412698-33412793
Coord A exon
chr6:33412794-33413195
Coord C2 exon
chr6:33413196-33413296
Length
402 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGA
5' ss Score
7.23
3' ss Seq
GTCTACTATTATCACTGCAGCTT
3' ss Score
6.31
Exon sequences
Seq C1 exon
CTGCCCTCCCTGGAGAGGAACTCCTCTGTTGTGTCTGTCGCTCTGAGACTGTGGTCCCTGGGAACCGGCTGGTCAGCTGTGAGAAGTGTCGCCATG
Seq A exon
GTGAGAGGGCAGGTCACCTGAATGGTCCAGCTTGCTCTTCCCTCCAGGATGGTCTCTATATCACCTGTCCTGGCCTTAGTCCCCAAGCCACTGCTCTGGCCAGGCTGCTTAGCCTTATCTTAGTCCTCATCCGCTTTCAGCCCAGGGAGAAGCAGCCATGGAAAGGGGTGGTATAACCTTTGCAGGCAGAAGATGGTTTAAATGCATCCTTTTCTAACCATATGACCTCGGACAAGTCCCTTAACCTCTAGGAGCCTCAGTTCCCTGACTTGTAAAATAAGGATAATGCACCCCCTCATCAAGACCATGGTCAGGGATTAAATGAGATGGGTAAAGACTATTCCTGTCCCAATACCAAGCACACACAGGTATGCAATAAGTGGTCTACTATTATCACTGCAG
Seq C2 exon
CTTATCACCAGGACTGCCATGTTCCCAGGGCTCCAGCCCCTGGAGAGGGAGAGGGCACATCCTGGGTATGCCGCCAGTGTGTCTTTGCGATCGCCACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000112511:ENST00000374512:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF150571=DUF4537=PD(23.8=45.5),PF144461=Prok-RING_1=PU(70.0=84.8),PF0062824=PHD=PU(44.4=72.7)
A:
NA
C2:
PF144461=Prok-RING_1=PD(27.5=32.4),PF0062824=PHD=PD(53.7=85.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCTCCCTGGAGAGGAAC
R:
CTTGGTGGCGATCGCAAAGA
Band lengths:
195-597
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains