HsaINT0123891 @ hg38
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28917285-28919275:-
Coord C1 exon
chr17:28919143-28919275
Coord A exon
chr17:28917450-28919142
Coord C2 exon
chr17:28917285-28917449
Length
1693 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGC
5' ss Score
8.15
3' ss Seq
TGTGTCTGCTTTGTCCCTAGCTG
3' ss Score
10.64
Exon sequences
Seq C1 exon
GAGTTGCCGTGTGGCTCCTCTCATCCAGTGTGACTATTGCCCTCTCCTGTTTCACATGGATTGCCTCGAGCCGCCGCTCACTGCCATGCCCCTGGGCAGATGGATGTGTCCGAATCACATCGAACATGTGGTG
Seq A exon
GTAAGCACAGCAGTGTCCATTCAGTCCTCAATGGGCATAGCTGGAGCGTGGACTGATTAGCAGAAAGCATATTAAGGTCAGCTTGGTGCCAAGTTCACCACATTGTCATAGGTACTGGTTTCTGCAGGCCACCCTACTCAATTCTGATCATTTTGACATATTTCAGCTATGCTTTTTCTCACAATGTTTTGTTTCAGCTGCCCATACAGACTTAACTCACTAGTGCTTGGTTGTTTGTAAGTGACTTATAGGGAATTAAGCAGTTGATGTTATAGCCCTAAAAGGGGAGTATATTAGATCCAACCTTAAGGAAATAAATCGTTGGCTGTCTGGGGTACATGTGTCCCAGGCACCAAATGAAGTTTAGTAAATAAGCTGTTGAATGAATAATAGTGTGAAGGTCCTATTGCTTTCTCTTCCAAGAGTCTTGGGTTTATTTTCCAGACTGAGGCTAGAAAAGAGCTGTCACTTGCTATCTCCAAAAGAAGTTTAGGACATCTCTTTATAGGCAGTTAGAACAGTCACTCACAAGATTGAATGGGAGAGGATTTGAGGAGGAGGAGCTCCCTCATAAGAGCAGCCTTCCAAATTAAAAAGGCTACTGCTTAAGACATTGTCTGTCAAATGATGATAACCATGGAATGACCGTTGGCCTTCATGGCAGTGTGCTGCTGACCTTGCACTGAGAGGAACCTCGGTTAAAGACTTGCACACATGGAAGAGAAGAGTTACTTTGTGTTCTTTTGACTCATGCCAGTCAAAGATTTTTCTAGGAGGAAAATCTAGTCTTGTTTTGCTTCCTTGTTTCTCTCCTAGTCTTGTTTTGCTTCCTGATGAACCAGAAAAAAAATGACCATAAGCAGTTTACCCAAATGTGAAACTTAAAGAGCAGCTTTCTAGCAGTTGAGAAATTCTTAGTGGGTTAAATTTTTGTTAGCCACTTAAAGGTTTTTCCTGATTTATGAATTAGGCAGCTGCCACAGCAGGTCCTTTCTTTTGAATTAAAATGTAGGAGCCCAGATGTAGAATAGGAAAAGTGGCATAATTTCTGTATGCCTTCGTATATTATTGCAGAAACTCTTCTTTCTTTTCTCCTTTTGGCTTCTAAGAGCAATCCAAGGTTTTCCCTTCCAGTAGAGGAAGACTGATATCAAGATGGGTTAACTTATGCTCCTTGGTACCACGGAGTAGGAGTAGAGCAGAGCACACGGATTTCTGGTTCTGACCCAGTTGTCAGCCAAGCTCCTATGTAGGACACAGTCCTGCTTTTCCTATTAGAGAGAGGCCCTTCCTGGGAAGGGAGTGTGGGTCTCTTAAGGGTCGAAGCATACGTCTTCTCTGAAACCTGTGCTGCTATTAGAGGGCCCTGACAGAGGCTTCTCTGAGCTGGAACAGAAGACTGTCAGAGGCCGAATTTGGAAGGGCACGTCTTGGCTAATTTCTCCTGCCTTCCTTAAGGCTCTCTAGGGAACAGGAACATATTGGCTCTCTTCCACTGGACTGGGCAGGGCTGAGTAGGAAGTCTCATCCATGTTCCCTTGCTCTCTGACAAAGAGTGCCGACATCCTGGTCCCTAATTGAGGGAACCTATGTGGCTGAGGGCTTCTAGTTTTTAAACACAGGGAATGGGGTTAACTGGGATAGGAGGTGCCTTTTGAGGCTCACCACAAGGTTGTGTCTGCTTTGTCCCTAG
Seq C2 exon
CTGAACCAGAAGAATATGACACTGAGCAATCGGTGCCAGGTGTTTGATCGTTTCCAGGACACCGTTTCGCAGCATGTCGTCAAAGTGGACTTCCTGAACCGAATCCACAAGAAGCACCCCCCTAACCGGCGTGTGCTCCAGTCGGTCAAAAGAAGAAGCTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118:ENST00000332830:6
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=0.104
Domain overlap (PFAM):
C1:
PF0013017=C1_1=PD(71.8=62.2),PF0062824=PHD=PD(84.8=86.7)
A:
NA
C2:
NO
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:
CGTGTGGCTCCTCTCATCCAG
R:
AGCTTCTTCTTTTGACCGACTGG
Band lengths:
286-1979
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development