Special

HsaEX6064123 @ hg38

Exon Skipping

Gene
Description
F-box and WD repeat domain containing 5 [Source:HGNC Symbol;Acc:HGNC:13613]
Coordinates
chr9:136942547-136943506:-
Coord C1 exon
chr9:136943349-136943506
Coord A exon
chr9:136942769-136942943
Coord C2 exon
chr9:136942547-136942695
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-'3-16,'3-14,6-16=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=0.000
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:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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
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