HsaEX6063448 @ hg19
Exon Skipping
Gene
ENSG00000187239 | FNBP1
Description
formin binding protein 1 [Source:HGNC Symbol;Acc:17069]
Coordinates
chr9:132662244-132665280:-
Coord C1 exon
chr9:132665148-132665280
Coord A exon
chr9:132662705-132662826
Coord C2 exon
chr9:132662244-132662380
Length
122 bp
Sequences
Splice sites
3' ss Seq
CTCATTGCTTTTGTCTCCAGGCC
3' ss Score
9.8
5' ss Seq
GAGGTACAG
5' ss Score
6.62
Exon sequences
Seq C1 exon
AGATGCCATAACAAAAATGAAAGATGTCTACCTAAAGAATCCTCAGATGGGAGACCCAGCCAGTTTGGATCACAAATTAGCAGAAGTCAGCCAAAATATAGAGAAACTGCGAGTAGAGACCCAGAAATTTGAG
Seq A exon
GCCTGGCTGGCTGAGGTTGAAGGCCGGCTCCCAGCACGCAGCGAGCAGGCGCGCCGGCAGAGCGGACTGTACGACAGCCAGAACCCACCCACAGTCAACAACTGCGCCCAGGACCGTGAGAG
Seq C2 exon
CCCAGATGGCAGTTACACAGAGGAGCAGAGTCAGGAGAGTGAGATGAAGGTGCTGGCCACGGATTTTGACGACGAGTTTGATGATGAGGAGCCCCTCCCTGCCATAGGGACGTGCAAAGCTCTCTACACATTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187239-'25-33,'25-31,26-33=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.731 A=0.809 C2=0.760
Domain overlap (PFAM):
C1:
PF039618=DUF342=FE(35.2=100),PF136541=AAA_32=FE(29.3=100),PF143891=Lzipper-MIP1=FE(53.0=100),PF0396210=Mnd1=FE(45.8=100),PF154561=Uds1=FE(48.9=100),PF0043516=Spectrin=FE(54.3=100),PF0218511=HR1=FE(60.3=100)
A:
PF039618=DUF342=PD(22.4=68.3),PF136541=AAA_32=FE(26.7=100),PF143891=Lzipper-MIP1=PD(9.6=19.5),PF0396210=Mnd1=PD(24.0=56.1),PF154561=Uds1=PD(11.1=24.4),PF0043516=Spectrin=PD(11.1=22.0),PF0218511=HR1=PD(5.5=9.8)
C2:
PF136541=AAA_32=PD(16.0=51.1),PF146041=SH3_9=PU(11.8=12.8)
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:
TGCCATAACAAAAATGAAAGATGTCT
R:
GTAGAGAGCTTTGCACGTCCC
Band lengths:
257-379
Functional annotations
There are 2 annotated functions for this event
PMID: 14596906
This event
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, mutation analysis, two hybrid, x-ray crystallography. ELM ID: ELMI002056; ELM sequence: DRESPDGS; Overlap: PARTIAL_RIGHT
PMID: 22153077
This event
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, mutation analysis. ELM ID: ELMI002056; ELM sequence: DRESPDGS; Overlap: PARTIAL_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)