HsaEX6063448 @ hg38
Exon Skipping
Gene
ENSG00000187239 | FNBP1
Description
formin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:17069]
Coordinates
chr9:129895268-129903001:-
Coord C1 exon
chr9:129902869-129903001
Coord A exon
chr9:129900426-129900547
Coord C2 exon
chr9:129895268-129895996
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
GTCAGAATGAAGGAACGATTTCCGTAGTTGAAGGAGAAACATTGTATGTCATAGAGGAAGACAAAGGCGATGGCTGGACCCGCATTCGGAGAAATGAAGATGAAGAGGGTTATGTCCCCACTTCATATGTCGAAGTCTGTTTGGACAAAAATGCCAAAGGTGCTAAGACTTATATTTAATACCATAAAAAAAAAAAACTTAAAAAAAATGGAGTTGTTTCTCCCCACAACCATGACTGTTACAGGCAGTTCCTCAAGAGACTGGCTGGCAAGCACCATAATGCACGTTCTCCTGTAGTCTCACGTGGACTTCAGGGTCTGGGCACCTGAATTGCCTTGTCTAGTTTGGGCTGTAATCAAGTTTCACTTGCTGATGAAATTTTATGTGGAAAGCTGCCAACCGCCAACTTACAGCTATGTCATTCAAAATCTGATAAACATTTCTTCTTTTGGCGGTATCTGTAGATTAAAAAAAAAGTTGCATTGTAGCTTCTCATCTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187239_MULTIEX1-9/10=8-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.747 A=0.806 C2=0.387
Domain overlap (PFAM):
C1:
PF154561=Uds1=FE(49.4=100),PF0218511=HR1=FE(69.8=100)
A:
PF154561=Uds1=PD(11.2=24.4),PF0218511=HR1=PD(1.6=2.4)
C2:
PF146041=SH3_9=PD(86.3=73.3)
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:
CCCAGCCAGTTTGGATCACAA
R:
GCACCTTTGGCATTTTTGTCCA
Band lengths:
242-364
Functional annotations
There are 2 annotated functions for this event
PMID: 14596906
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
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