Special

HsaEX6062997 @ hg19

Exon Skipping

Gene
Description
WD repeat domain 38 [Source:HGNC Symbol;Acc:23745]
Coordinates
chr9:127616484-127618237:+
Coord C1 exon
chr9:127616484-127616604
Coord A exon
chr9:127617913-127618029
Coord C2 exon
chr9:127618140-127618237
Length
117 bp
Sequences
Splice sites
3' ss Seq
GACTGTGGCCACCCGCCCAGGCC
3' ss Score
3.07
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
GTCAACTCTTCTGCCTTCTCCCCTGATGGCCAGATGCTGCTCACAGGCTCAGAAGATGGCTGCGTGTATGGCTGGGAGACCCGGAGTGGGCAGCTGCTGTGGAGGCTGGGTGGCCACACAG
Seq A exon
GCCCCGTGAAGTTCTGCCGCTTCTCCCCTGATGGCCACCTCTTCGCCAGCGCCTCCTGTGACTGCACTGTCCGCCTGTGGGATGTGGCAAGAGCGAAGTGTCTGCGGGTCCTGAAGG
Seq C2 exon
GTCACCAACGGAGTGTGGAGACGGTCAGCTTCAGCCCTGACTCGAGACAGCTGGCATCAGGTGGCTGGGACAAGCGGGTGATGCTCTGGGATGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136918-'1-2,'1-1,2-2=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0040027=WD40=PD(65.8=61.0),PF0040027=WD40=PU(28.2=26.8)
A:
PF0040027=WD40=PD(69.2=67.5),PF146551=RAB3GAP2_N=PU(25.8=42.5),PF0040027=WD40=PU(20.5=20.0)
C2:
PF146551=RAB3GAP2_N=FE(48.5=100),PF0040027=WD40=PD(76.9=90.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAACTCTTCTGCCTTCTCCC
R:
CTGCACATCCCAGAGCATCAC
Band lengths:
219-336
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains