HsaINT1026777 @ hg38
Intron Retention
Gene
ENSG00000112511 | PHF1
Description
PHD finger protein 1 [Source:HGNC Symbol;Acc:HGNC:8919]
Coordinates
chr6:33412508-33412793:+
Coord C1 exon
chr6:33412508-33412589
Coord A exon
chr6:33412590-33412697
Coord C2 exon
chr6:33412698-33412793
Length
108 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
3' ss Seq
GACACTGTGTTCTCTCACAGCTG
3' ss Score
9.85
Exon sequences
Seq C1 exon
GTGGACAGTGCTAGGGAGGTGTGTCTGGTCCAGTTTGAGGATGATTCGCAGTTTCTGGTTCTATGGAAAGACATTAGCCCTG
Seq A exon
GTAAGACTCTAGAGACCTGAGATTGCACATCCCATGGAAAACAAACCTGGCCTAGAGGGGCAGAAAGAGACTTAAAGGCAGGCCCTGTGACACTGTGTTCTCTCACAG
Seq C2 exon
CTGCCCTCCCTGGAGAGGAACTCCTCTGTTGTGTCTGTCGCTCTGAGACTGTGGTCCCTGGGAACCGGCTGGTCAGCTGTGAGAAGTGTCGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000112511:ENST00000374512:3
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=FE(47.4=100)
A:
NA
C2:
PF150571=DUF4537=PD(23.8=45.5),PF144461=Prok-RING_1=PU(70.0=84.8),PF0062824=PHD=PU(44.4=72.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAGTGCTAGGGAGGTGTGT
R:
CGACACTTCTCACAGCTGACC
Band lengths:
170-278
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains