HsaEX6093994 @ hg38
Exon Skipping
Gene
ENSG00000105701 | FKBP8
Description
FK506 binding protein 8 [Source:HGNC Symbol;Acc:HGNC:3724]
Coordinates
chr19:18539551-18542972:-
Coord C1 exon
chr19:18542888-18542972
Coord A exon
chr19:18541679-18541995
Coord C2 exon
chr19:18539551-18539720
Length
317 bp
Sequences
Splice sites
3' ss Seq
TCTCTGCCCCCCACTTCCAGGGC
3' ss Score
11.49
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
GAATTGTGCGGGCGCGGGGAATTATGGGGGTGGGGGCTGGGAGGGTCTCTCAAAGTGGGGCTCCGAGCCCGGGAGGAGCAGGCAG
Seq A exon
GGCCAATTCCTGTCCCCCCAGCAGCATGGCATCGTGTGCTGAACCCTCTGAGCCCTCTGCCCCACTGCCCGCCGGGGTCCCACCGCTCGAGGACTTCGAGGTACTGGATGGGGTTGAGGATGCAGAGGGTGAGGAGGAAGAGGAGGAGGAAGAGGAGGAAGAGGATGACCTGAGTGAGCTGCCACCGCTGGAGGACATGGGACAACCCCCGGCGGAGGAGGCTGAGCAGCCTGGGGCCCTGGCCCGAGAGTTCCTTGCTGCCATGGAGCCCGAGCCCGCCCCAGCCCCGGCCCCAGAAGAGTGGCTGGACATTCTGG
Seq C2 exon
GGAACGGGCTGTTGAGGAAGAAGACGCTGGTCCCAGGGCCGCCAGGTTCGAGCCGCCCGGTCAAGGGCCAGGTGGTCACCGTACATCTGCAGACGTCGCTGGAGAATGGCACACGGGTGCAGGAGGAGCCGGAGCTGGTGTTCACTCTGGGTGACTGTGACGTCATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105701-'6-12,'6-8,13-12
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.983 C2=0.660
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0025423=FKBP_C=PU(46.1=71.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCGGGGAATTATGGGG
R:
TGACGTCACAGTCACCCAGAG
Band lengths:
239-556
Functional annotations
There are 2 annotated functions for this event
PMID: 19546213
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, anti tag coimmunoprecipitation, colocalization, competition binding, detection by mass spectrometry, fluorescence polarization spectroscopy, fluorescent resonance energy transfer, glutathione s tranferase tag, isothermal titration calorimetry, mutation analysis, protein array, pull down, subcellular preparation. ELM ID: ELMI002479; ELM sequence: LPPLE; Overlap: FULL
PMID: 23413029
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, anti tag coimmunoprecipitation, colocalization, competition binding, detection by mass spectrometry, fluorescence polarization spectroscopy, fluorescent resonance energy transfer, glutathione s tranferase tag, isothermal titration calorimetry, mutation analysis, protein array, pull down, subcellular preparation. ELM ID: ELMI002479; ELM sequence: LPPLE; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains