HsaINT0123882 @ hg38
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28908783-28910369:-
Coord C1 exon
chr17:28910226-28910369
Coord A exon
chr17:28908882-28910225
Coord C2 exon
chr17:28908783-28908881
Length
1344 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCGC
5' ss Score
9.05
3' ss Seq
TTCCTATGTTTGTCTTGTAGTGC
3' ss Score
8.82
Exon sequences
Seq C1 exon
AAATCGAGATAAATATGCTGGACGAGAAGCTGATCAAGTTTCTGGCCTTGCAGAGAATACATCAGCTTTTCCCCTCCCGGGTCCAACCTTCACCGGGCAGTGTCGGGACACATCAGCTGGCTTCTGGAGGGCACCACATAGAAG
Seq A exon
GTGCGCATGTACACACCTGTCACCACATCATCAGATCTCCCCTCTACGTGTGCGAATGGTCACCTTGCCTCCATGGAGAATCTGAGCTTCCAGTATCTCAAACCTCCTTGTGTGCTTTTCATGGGCTTAATAAAGCACCATGGTTTTTTTCTGAAGAGAGCAGGAACAAGATGGCAACCACAGCTTTCTGATCAGACTTGGGGAAGTCTGCTGTAACTTTCTTTCATATATAAGTCCACTTCGAGACACAGCAAAGCAGCTACCAGTACCTTTGGGTATATGTAGTGTACTTTCTGCTTACTTGCTTTCAAATATTTGAATTAGAAGGGCTTCCCGACTGAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACACAGTGAGACCCTATCTCTACAAATAATTTTAAACTTACCCAGGCATGGTGGCATACACCTGTAATCCCAGCTGCTTGGAAGGCTAAGATGGGAGGATCGCTTGAGTCTGGGAGGTCAAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCAAATAAATAAGTAAATAAATAAATAAAATTTTAAAAAGAATGGCTTCCCAAGAGGGAACTTTTCAAGTTCAAGTTGAGAAATAGAATAACACTAGGCCAACCTTCTGGAAATTTTCCCCAAGTGGTTAACTCTGTTTCAGATATGTCTGAGCATTGGCCATTAAGAGCCTTGCTGCTTCAAAGTGTGGTTCGCAGACCAGCAGCATCAGCAGCCCCTGAGAGCTTGTTAGAAATGCAGAGCTCAATGCATTGGTTTTTTGCCTATTTTTAAAGAAAACAGCAAAAGAAATGCAGAGCTAAGGCCCCTCCTCAGACCTATTGAATCAGAATCTGCATTTCAACAAGATCTGTAGGCGATTCTTATGCACATTAAAGTTTGAGAAACACTGGTCCATGCCGTCTGTTTTTCCATATTCTCCCTATAGTACCAGCTGGAATATCCCGGATTAGCCAGCCAGGAGCCCAGGAACTTACACAGTACTGTCATCTCTGACTTCTCTGACCATCTTCAAAGATGGTCCTCTGTACCCTGTGTTGGAAATGCTGTGGGTGGGGAGAGAAAGCCTTACCCTGCCGCAGCTCAGTGTTGGATGTGAGTTTGGAAAGATGAGTCATCCAGCGGGATTTTCTCCAGGCCATGAGCCAAAGGTCCAGATTTTGTTGGTTTATGTTTGGATCACAGGATCTGAGTTTCTGAATGATCCTATTCCTATGTTTGTCTTGTAG
Seq C2 exon
TGCAAAGAAAGGAGGTACAGGCCCGAGCTGTGTTCTACCCCCTCTTAGGGTTGGGAGGAGCTGTGAACATGTGCTATCGAACCCTCTACATCGGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118:ENST00000332830:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.321 A=NA C2=0.239
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0049821=FHA=PU(7.7=14.7)
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:
AAATCGAGATAAATATGCTGGACGA
R:
CCGATGTAGAGGGTTCGATAGC
Band lengths:
238-1582
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