HsaINT0123891 @ hg19
Intron Retention
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:20816]
Coordinates
chr17:27244303-27246293:-
Coord C1 exon
chr17:27246161-27246293
Coord A exon
chr17:27244468-27246160
Coord C2 exon
chr17:27244303-27244467
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-PHF12:NM_020889:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.073
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
Other Skipping Isoforms:
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
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)