Special

HsaEX6064123 @ hg19

Exon Skipping

Gene
Description
F-box and WD repeat domain containing 5 [Source:HGNC Symbol;Acc:13613]
Coordinates
chr9:139836999-139837958:-
Coord C1 exon
chr9:139837801-139837958
Coord A exon
chr9:139837221-139837395
Coord C2 exon
chr9:139836999-139837147
Length
175 bp
Sequences
Splice sites
3' ss Seq
CAGCCGCCCCTGCCGAACAGATC
3' ss Score
5
5' ss Seq
TAGGTGAGC
5' ss Score
7.96
Exon sequences
Seq C1 exon
CGGCCATGTCCTGGTACGAGGAGTTCCAGCGGCTGTATGACACGGTGCCCTGCGTGGAGGTGCAGACGCTGCGGGAACACACAGACCAGGTCCTGCACCTCAGCTTCTCCCATTCCGGGTACCAGTTCGCGTCCTGCTCCAAGGACTGCACTGTGAAG
Seq A exon
ATCTGGAGCAACGACCTGACCATCTCGCTGCTGCACAGCGCGGACATGCGGCCCTACAACTGGAGCTACACCCAGTTCTCCCAGTTCAACAAGGACGACTCGCTACTGCTGGCCTCGGGGGTGTTCCTGGGGCCGCACAACTCCTCATCCGGCGAGATTGCTGTCATCAGCCTAG
Seq C2 exon
ACTCCTTCGCGCTGCTGTCCCGCGTGCGGAACAAGCCCTATGACGTGTTTGGCTGTTGGCTCACCGAGACCAGCCTCATCTCGGGGAACCTGCACCGCATCGGAGATATCACCTCCTGCTCGGTGCTGTGGCTCAACAATGCCTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159069-'2-8,'2-6,4-8=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=0.000 A=0.000 C2=0.009
Domain overlap (PFAM):

C1:
PF0040027=WD40=PU(89.7=66.0)
A:
PF0040027=WD40=PD(5.1=3.4)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTTCCAGCGGCTGTATGAC
R:
GGAGGTGATATCTCCGATGCG
Band lengths:
254-429
Functional annotations
There are 1 annotated functions for this event
PMID: 21725316
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, coimmunoprecipitation, protein kinase assay, western blot. ELM ID: ELMI003387; ELM sequence: KDDSLLL; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains