Special

HsaEX0058025 @ hg38

Exon Skipping

Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129010120-129012298:-
Coord C1 exon
chr9:129012236-129012298
Coord A exon
chr9:129010670-129010693
Coord C2 exon
chr9:129010120-129010209
Length
24 bp
Sequences
Splice sites
3' ss Seq
TCCTGCTGCCGTCTCCACAGCTC
3' ss Score
9.13
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
ACGGTGCCTGACTTTCAGGAGACTAGACCTCGTAATTACATTCTCTCGGCCAGCGCCTCCGCG
Seq A exon
CTCTGGAATGATGAAGTGGACAAG
Seq C2 exon
GCCGAGCAGGAGCTCCGCGTGGCCCAGACAGAGTTTGACCGGCAAGCAGAAGTGACCCGTCTCTTGCTGGAGGGAATCAGTAGCACTCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341-'24-31,'24-28,30-31
Average complexity
S
Mappability confidence:
100%=100=67%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.143 A=0.000 C2=0.167
Domain overlap (PFAM):

C1:
PF0311413=BAR=FE(7.1=100)
A:
PF0311413=BAR=FE(2.7=100),PF0313112=bZIP_Maf=FE(7.8=100)
C2:
PF0311413=BAR=FE(11.4=100),PF0313112=bZIP_Maf=PD(24.4=73.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
ATTACATTCTCTCGGCCAGCG
R:
TGCTACTGATTCCCTCCAGCA
Band lengths:
114-138
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development