HsaEX0046945 @ hg19
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:20816]
Coordinates
chr17:27238130-27240295:-
Coord C1 exon
chr17:27239500-27240295
Coord A exon
chr17:27238348-27238402
Coord C2 exon
chr17:27238130-27238255
Length
55 bp
Sequences
Splice sites
3' ss Seq
TCCTCACCACACGTTTTTAGCTC
3' ss Score
5.14
5' ss Seq
TGGGTCCGA
5' ss Score
-3.43
Exon sequences
Seq C1 exon
GAAAACCCCTTGTGGGACTGCCAATGGGCCAGTGAACACAGAGGTGAAAGCTAATGGCCCACACCTCTACAGCAGCCCTACTGATTCCACGGACCCCCGGCGACTTCCAGGCGCTAACACCCCACTACCAGGCCTCTCACACCGGCAAGGCTGGCCCCGGCCCCTCACGCCACCAGCGGCTGGGGGCCTTCAGAACCACACCGTCGGCATCATTGTGAAGACAGAGAATGCCACTGGCCCCAGCTCTTGCCCCCAGAGGAGTTTGGTTCCTGTCCCAAGCCTGCCCCCTTCCATTCCCAGCTCTTGTGCCAGCATCGAGAACACCAGCACTTTGCAAAGAAAGACTGTCCAATCACAGATAGGACCTCCGTTGACAGATTCAAGGCCACTGGGCTCACCCCCAAACGCCACCCGGGTGCTCACTCCCCCGCAAGCAGCAGGAGATGGTATCTTGGCCACAACAGCCAACCAACGATTCAGCTCACCAGCGCCATCGTCAG
Seq A exon
CTCTAGGAGTTCCAGAGCCTATGGGTTGAGAATCAAGAAGGGAACATCACCTTGG
Seq C2 exon
ATGGCAAGGTCAGCCCCGGCACGTTATCCATAGGAAGCGCTTTAACCGTACCCTCTTTCCCAGCCAACTCTACTGCCATGGTGGACCTCACCAACTCACTTCGAGCATTTATGGATGTCAATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.845 A=1.000 C2=0.337
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTATCTTGGCCACAACAGC
R:
CATGGCAGTAGAGTTGGCTGG
Band lengths:
136-191
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)