HsaINT1026789 @ hg38
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28911112-28913277:-
Coord C1 exon
chr17:28912482-28913277
Coord A exon
chr17:28911238-28912481
Coord C2 exon
chr17:28911112-28911237
Length
1244 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TCTTCCTGCTCCGTCCCCAGATG
3' ss Score
12.16
Exon sequences
Seq C1 exon
TGGCTCTGTAGTGTTGTTGCGCTCCAGTGCAGCATATTGAAACATTTATCTGCTAAGCAGATGCCTTCGCATTGGGACTCTGAACAGACAGAGAAGGCTGATATTAAGCCTGTTATTGTGACTGACAGCTCAGTCACCACCTCCCTGCAAACAGCTGACAAGACACCTACACCTTCCCACTACCCCTTGTCCTGCCCCTCAGGGATTAGCACCCAGAATTCCCTGAGCTGCTCTCCACCCCACCAGTCCCCAGCCCTAGAGGACATCGGCTGCAGTTCTTGTGCGGAAAAATCCAAGAAAACCCCTTGTGGGACTGCCAATGGGCCAGTGAACACAGAGGTGAAAGCTAATGGCCCACACCTCTACAGCAGCCCTACTGATTCCACGGACCCCCGGCGACTTCCAGGCGCTAACACCCCACTACCAGGCCTCTCACACCGGCAAGGCTGGCCCCGGCCCCTCACGCCACCAGCGGCTGGGGGCCTTCAGAACCACACCGTCGGCATCATTGTGAAGACAGAGAATGCCACTGGCCCCAGCTCTTGCCCCCAGAGGAGTTTGGTTCCTGTCCCAAGCCTGCCCCCTTCCATTCCCAGCTCTTGTGCCAGCATCGAGAACACCAGCACTTTGCAAAGAAAGACTGTCCAATCACAGATAGGACCTCCGTTGACAGATTCAAGGCCACTGGGCTCACCCCCAAACGCCACCCGGGTGCTCACTCCCCCGCAAGCAGCAGGAGATGGTATCTTGGCCACAACAGCCAACCAACGATTCAGCTCACCAGCGCCATCGTCAG
Seq A exon
GTGAGTGCTGCTCAGCCTTGGGTTGATTTGGAATAATTTTATGCTCTTTCTGGCAAATAAGATTCTAAAAGCACTTATATCCCTGTGAATACTTCAGAGGACTTTGGCCTTTGTATTGTTTGTCTTACTCTCATTTCCGTAATAGAAGAGGAAGCACATGTTAACTTGTCCCGTTTATAAATGGGACTGCTTAGGCTCTGAAAGCTTCAGTGATTTCCTTAAAATGACCTACTGAGTCAGTGGCAGGATTGGAACCACAGCCCAGGTCTCCTGACTCCATCCCATACCTTCCAGGCCTAGGCCTCTGCCTGTTTTGTTCTGTCACCTTAAAAGAAGGCAGGGTGCTCTCTGGAATTACTATGATCAGCCTGAGGTTCTGCGTGATGGCCTCAGTATTGTCAGATCCACACAAAAGAATGGATTCATGCCTGATGCATATTCTCAGAAAGAGTTAATCTGATGAACTTCCATGTCAGGAAGCAGGGCTAGACAGCAGCACTGTCTTTCAGAGGAGCTGTAGAGTGGGATGCCCACAGGGATTGTTCTAGCCCAGAAGCGTGCCCTCAGGCCACATGCCAAAGGGCGGTCCTTCAGGTCTGTACTTGGCCTACTGTGGACCTGCTCTCTCAGCTGTCCCCAGAGAGCACTCAGGACCTTGAAGTTGCTGACCCCAGCATCTGAACCAGGTTTCAGATGCTGCCGGAACCCTCTGTGGTCTCTCCCGTCTGAACTGAAGCCGGCCTCCTAGTCAGCTGGGAGTCTCGGTAACCAGATGATTGTGATTTCTCTGCATGGGAGCCCCTGGTCCCAGGATGGCCCCGCTCCCAGGCTGTTTTCCTATCTCTGTTTATCGCTTAAAACCAGCGTGGGTAGATTCTCCACGCCGTGAGTCATATTTCAGTAGGCAAGAATTATAAGGGCAGGCACTACTTATTTTAAAGTAGAGGCAGCAGGGAGGTGGTCATGGCCCAAAGAATGAAGCTGCCCCACCACTTTCCCCAGAGCAGTGGATTTCAGTGGTTCTCAGTGCTCTGGAGACTCCTGCGTGCCTGGGTGCTTTGTCGTTCCATCTGCCCTTCCTCACCACACGTTTTTAGCTCTAGGAGTTCCAGAGCCTATGGGTTGAGAATCAAGAAGGGAACATCACCTTGGGTCCGAAATCCAGACCTGTCTCAGCAGTGGGGGATTGGACGGTGGGTTTCCCTCAGGCGACGTAAGTAACAGTCTTCCTGCTCCGTCCCCAG
Seq C2 exon
ATGGCAAGGTCAGCCCCGGCACGTTATCCATAGGAAGCGCTTTAACCGTACCCTCTTTCCCAGCCAACTCTACTGCCATGGTGGACCTCACCAACTCACTTCGAGCATTTATGGATGTCAATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118:ENST00000332830:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.848 A=NA C2=0.379
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO


Other Inclusion Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTCGGCATCATTGTGAAGA
R:
GGTACGGTTAAAGCGCTTCCT
Band lengths:
352-1596
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains