HsaEX0046945 @ hg38
Exon Skipping
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
chr17:28911330-28911384
Coord C2 exon
chr17:28911112-28911237
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_MULTIEX2-4/10=3-5
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.848 A=1.000 C2=0.379
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