HsaINT1026776 @ hg38
Intron Retention
Gene
ENSG00000112511 | PHF1
Description
PHD finger protein 1 [Source:HGNC Symbol;Acc:HGNC:8919]
Coordinates
chr6:33412248-33412589:+
Coord C1 exon
chr6:33412248-33412422
Coord A exon
chr6:33412423-33412507
Coord C2 exon
chr6:33412508-33412589
Length
85 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TGTTTGCTCACCCATTCCAGGTG
3' ss Score
9.35
Exon sequences
Seq C1 exon
GCCCCCCCAGGATGCAATGGCGCAGCCCCCCCGGCTGAGCCGCTCTGGTGCCTCCTCACTTTGGGACCCAGCTTCTCCTGCTCCCACCTCTGGCCCCAGGCCTCGGCTTTGGGAGGGTCAAGATGTGCTGGCCAGATGGACTGATGGGCTGCTATACTTGGGTACCATCAAAAAG
Seq A exon
GTAAGACCTTCTACCTCTGACCTTCTTCCTAGTTCCCTTATCTAATTCTGGTTCCCATTTCATCCTGTTTGCTCACCCATTCCAG
Seq C2 exon
GTGGACAGTGCTAGGGAGGTGTGTCTGGTCCAGTTTGAGGATGATTCGCAGTTTCTGGTTCTATGGAAAGACATTAGCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000112511:ENST00000374512:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.461 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF150571=DUF4537=PU(33.3=35.8)
A:
NA
C2:
PF150571=DUF4537=FE(47.4=100)
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:
CTCTGGTGCCTCCTCACTTTG
R:
AACTGGACCAGACACACCTCC
Band lengths:
168-253
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains