HsaEX0046942 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28905250-28907672:-
Coord C1 exon
chr17:28907590-28907672
Coord A exon
chr17:28906856-28906994
Coord C2 exon
chr17:28905250-28906517
Length
139 bp
Sequences
Splice sites
3' ss Seq
TCTCCCCTCCTCCTCCTCAGAAT
3' ss Score
10.53
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
GAGCTGACATGGATGTGTGCCTTACAAACTATGGTCACTGTAACTACGTGTCCGGGAAACATGCCTGCATATTCTACGATGAG
Seq A exon
AATACCAAACATTATGAGCTGTTAAACTACAGTGAGCATGGGACAACGGTGGACAATGTGCTGTATTCATGTGACTTCTCGGAGAAGACCCCGCCAACCCCCCCAAGCAGTATTGTTGCCAAAGTGCAGAGTGTCATCA
Seq C2 exon
GGCGCCGCCGGCACCAGAAACAGGACGAAGAGCCAAGTGAGGAGGCAGCCATGATGAGTTCCCAGGCCCAGGGGCCGCAGCGGAGACCCTGCAATTGCAAAGCCAGCAGCTCGAGCTTGATTGGGGGCAGTGGGGCCGGCTGGGAGGGCACAGCCTTACTGCACCATGGCAGCTACATCAAGCTGGGCTGCCTGCAGTTTGTCTTCAGCATCACTGAGTTTGCGACCAAACAGCCCAAAGGCGATGCCAGCCTGCTGCAGGATGGGGTCTTGGCCGAGAAGCTCTCTCTCAAGCCCCACCAGGGCCCTGTGCTGCGCTCCAACTCTGTTCCTTAGGACTGGCGGCTACCCCGCCACTGGCCTGTACACCCACCCAAGACTCCTGCAATGCAAAAATGTACACAAACCAAGCCCGGGTGTTTTCTATACTCTACCAGAAACCCTTCAACTACAATCTTTGCATGAAATGAAGAAAACCTTTTGACTGTTTTTTAAAAATCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_MULTIEX2-10/10=9-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.067 A=0.170 C2=0.351
Domain overlap (PFAM):
C1:
PF0049821=FHA=FE(41.5=100)
A:
PF0049821=FHA=PD(47.7=66.0)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGACATGGATGTGTGCCTT
R:
GTAGCTGCCATGGTGCAGTAA
Band lengths:
257-396
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