HsaEX6021720 @ hg38
Exon Skipping
Gene
ENSG00000109118 | PHF12
Description
PHD finger protein 12 [Source:HGNC Symbol;Acc:HGNC:20816]
Coordinates
chr17:28911112-28914037:-
Coord C1 exon
chr17:28913879-28914037
Coord A exon
chr17:28912482-28913277
Coord C2 exon
chr17:28911112-28911237
Length
796 bp
Sequences
Splice sites
3' ss Seq
CTCCTCTCCTTCCATTGCAGTGG
3' ss Score
9.79
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GTTCCTGATGCTATAAAATCTCAGTACCAGTTTCCACCCCCTCTCATTGCACCCGCGGCCATTCGGGACGGGGAGCTGATCTGCAATGGGATCCCTGAGGAATCACAGATGCACCTTTTGAACTCTGAGCACTTAGCCACCCAAGCAGAGCAGCAAGAG
Seq A exon
TGGCTCTGTAGTGTTGTTGCGCTCCAGTGCAGCATATTGAAACATTTATCTGCTAAGCAGATGCCTTCGCATTGGGACTCTGAACAGACAGAGAAGGCTGATATTAAGCCTGTTATTGTGACTGACAGCTCAGTCACCACCTCCCTGCAAACAGCTGACAAGACACCTACACCTTCCCACTACCCCTTGTCCTGCCCCTCAGGGATTAGCACCCAGAATTCCCTGAGCTGCTCTCCACCCCACCAGTCCCCAGCCCTAGAGGACATCGGCTGCAGTTCTTGTGCGGAAAAATCCAAGAAAACCCCTTGTGGGACTGCCAATGGGCCAGTGAACACAGAGGTGAAAGCTAATGGCCCACACCTCTACAGCAGCCCTACTGATTCCACGGACCCCCGGCGACTTCCAGGCGCTAACACCCCACTACCAGGCCTCTCACACCGGCAAGGCTGGCCCCGGCCCCTCACGCCACCAGCGGCTGGGGGCCTTCAGAACCACACCGTCGGCATCATTGTGAAGACAGAGAATGCCACTGGCCCCAGCTCTTGCCCCCAGAGGAGTTTGGTTCCTGTCCCAAGCCTGCCCCCTTCCATTCCCAGCTCTTGTGCCAGCATCGAGAACACCAGCACTTTGCAAAGAAAGACTGTCCAATCACAGATAGGACCTCCGTTGACAGATTCAAGGCCACTGGGCTCACCCCCAAACGCCACCCGGGTGCTCACTCCCCCGCAAGCAGCAGGAGATGGTATCTTGGCCACAACAGCCAACCAACGATTCAGCTCACCAGCGCCATCGTCAG
Seq C2 exon
ATGGCAAGGTCAGCCCCGGCACGTTATCCATAGGAAGCGCTTTAACCGTACCCTCTTTCCCAGCCAACTCTACTGCCATGGTGGACCTCACCAACTCACTTCGAGCATTTATGGATGTCAATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109118-'44-49,'44-44,48-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.140 A=0.848 C2=0.379
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGATGCTATAAAATCTCAGTACCA
R:
TCCATTGACATCCATAAATGCTCGA
Band lengths:
281-1077
Functional annotations
There are 2 annotated functions for this event
PMID: 24782567
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: detection by mass spectrometry. ELM ID: ELMI002883; ELM sequence: EKADIKPV; Overlap: FULL
PMID: 25218447
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: Identification by mass spectrometry, detection by mass spectrometry, his tag, pull down. ELM ID: ELMI002883; ELM sequence: EKADIKPV; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains