HsaINT0123888 @ hg19
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:20816]
Coordinates
chr17:27250927-27254081:-
Coord C1 exon
chr17:27254009-27254081
Coord A exon
chr17:27251321-27254008
Coord C2 exon
chr17:27250927-27251320
Length
2688 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATA
5' ss Score
8.49
3' ss Seq
CCACCTGTTCATTTGCACAGAAA
3' ss Score
6.47
Exon sequences
Seq C1 exon
TAACCCTCCACTGAGTGAAGAAATGTTGCCTCCTGGAGAGTGGATGTGTCACCGGTGCACTGTTCGCCGAAAG
Seq A exon
GTAATAATGCTGCTTTCTGAAGACTGTCCAGAAAGCCTGATCCAGAGCACTGATATGCTAGAGCTAAGACGGCCTAGCCCTGAAGGCATTCTTGTCCCTTCTTCTTGTCTCTTCCAGCCCTGGAATCACCCCACTCTTCCCATGGTGACTGTTTGGAATCCAGTAGGGCCTAAAAATCCAAACATGGGCTGCTGAAATGGGCAGAAGAGGTGTGTTAACTTACTGAGCCATGTTTAGTCACTAGTGACAGGAGTAGTCTTACCTTCTTGTTGTCCTCCTAATAAGTGGCCTTATCCATGGCTGAAAAACAAAGGCTGCTTCTCCAGCTTGATGGAAAATGGAGTTTTCTCTCACCCCAGGGCAAATAAGTCACTGGTATCCAGAGACTTGGCATACTGACGGAGAGGATTTTGAACGCATTTGTACCCCAAGTTGCCTAATCTTTCTTTAGCTTCCCTTCCTTCAGCTTTGATAATTCAGTACTGGCTTCAAGAACATGGTTTATTATTTTCTACTTTGAGAACTCTTGTGGGTAACAAGAGCTAAATTCTCCCTTATTAAAAAAGGAAGTAGGTGTGCTTGCACCCAAATTATGATTGACCCAACCCTCAAATTACAGGCTATGGATTAGAATTTGTCTGTGCATTGTAATCCACCCCCCTGTGCTCCCCACACTAATTATACACCAAGCAACTTTCCTATGTTGTGACCTCACCTCTATTTGCCTGGTCCCCGAACATGATGTCACAATGAATGATGACTTCCTTGGTTGCAGAAACAGGATGAGATGATTAAGATTGTGGTTTATGTGTGTAACAGTTTCAGCCTTTAAGAAAGAAAGTAAACAAGCAGACATTATTTTTCAAATACGTGCATAAGGGTTCATATTTAAAAGCAAGCCAAAGCCAGGTCAACCACCTAACCACAGCTGTAGTTAAATTTCTCCATAAACCAGGCTGTCTTCCAGCCTCTCCACCTTCCAAGATCCTTTCCTGTGCATCCCTAATTAGGTTAGAGCAGGGCCTGTTAGAGGCACCTGCCAGCCAGGAGCCCTCTCAAACTTGCCACTCAAAAAAGCTGGACCTGAAAAGGTTTAGGGGAGCTGAAGGAAAAGGGGTAAAGACGGTGGAGAAAAGGAAATATTATGTTAGTGCCCATCGTGTGCCAGGTGTTTTAATTACGTTATCCCATTATCTATCCATCCAGCCATAGATGGATACCGAATGCTGGCCGTAGGTTTCCATTTTAGAAAGGAAGAAACGGAGGCTCAAAAATGTAGATTAACTTTCCCAAGGACTCAAAGGTATTGACAGAACCAATGTTTGAACCAAATTCTCTCATTCCAAACCTCTGTTACCTCTTCATCAGTTTTCTAGAAGGAGAGCTACTTGTTGGGGATTACAGTATGCCCTTTTCTAACATGGCACTTCTCCTGAGATGCCTCTCTTACCTTTCACATGGACCTCTGCCTACCAGTGCCAAGTCTGCCTTTTCCACCATCACCAGCACTACTCCCCTTTGGCCTCTTGTATTTACACTGAAGTGGATTGAAATAATACATCCTCTGGCCTTCATCAGCTCCTGACATTCAGGCCCTATCATGATTCGTAGTGGAAGACTAGGTCCTACTCCAACTCCAAATTATCCCTTTCGTATATATGACCCTTTTTATCTCCCTCCACCATATCCCTGAGAGGAGGAGGAGAAAGATTTTTCTGTCTCATTTTACAGATGAAGAAATTCCTGCCCACCAGCCTGAGTCACCACAAGGTCAGAGGGGATCCGTGGCAGAAATAGGACAAGATCACAGGTCTCCTACCTGGAGATCAGTGTTAAACCTTCATTTGACCACTCTATTTGGAGTCCTGGAGGAAAATGTACTATCAGATATCCAGTCCTACTGAGTACACTTAATCTTTTTCCATTTCCCCACTTTCTAAGAAGTGTCACTTATTTTGAGCAAAGTTTTTATTTTTAAAACCATTCAGGAGGTCAGAAGGCTCTATAGTGATCTCACTGATTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTCGCCCAAGCTGGAGTGCAATGGCGCAATCTCAGTTCACTGCAATCTTTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGTGCCTGCCCCATTGATTTTTACTATTGGTCTCACTAAATTTATTCTCACTGTGTTACCTTTTTAGCCCTTTACCCTATACTTTATAGATGTTGTATGTCATACAATGAGTTAATGTTAATGATATATATTTTGTATAGTTATTCCTAACTTACCATGCTTTTTGGTGATTCTCTGATGCAACAGTTTTGTCAGCTTTAGTTCAGTTAGAGTTGTGTCAACTTTAACAGACCAGTGTTCCAAGTGACCAGGTAGATGAGTCTGTGATATGTGAAGGCCTTTTACAGTTTTGATTAGTGGTCTACCAGGACTTTGTAGCACCCATCTCTTTGTTTCATGGTACTTTTCATGATGGGCCCACCTGTTCATTTGCACAG
Seq C2 exon
AAACGAGAGCAGAAAAAGGAGCTGGGTCATGTCAATGGACTGGTGGACAAATCTGGCAAACGGACTACATCCCCCAGCAGTGACACTGACTTGTTGGACAGATCGGCCAGCAAAACTGAACTAAAGGCCATTGCCCATGCCCGGATCCTGGAAAGGAGAGCCAGCAGGCCTGGCACACCCACATCCAGCGCCAGCACAGAGACTCCCACCTCTGAGCAGAATGATGTCGACGAAGACATCATTGACGTGGATGAGGAACCAGTAGCAGCGGAGCCAGACTATGTGCAGCCCCAGCTGAGGCGGCCCTTTGAGCTGCTGATTGCTGCCGCCATGGAGCGGAACCCCACCCAATTTCAGTTGCCCAATGAACTGACTTGTACCACTGCACTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118-PHF12:NM_020889:3
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.080 A=NA C2=0.774
Domain overlap (PFAM):
C1:
PF0062824=PHD=PD(45.8=88.0)
A:
NA
C2:
PF057218=PhyH=PU(23.4=84.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)