HsaEX0058034 @ hg38
Exon Skipping
Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129010670-129014503:-
Coord C1 exon
chr9:129014411-129014503
Coord A exon
chr9:129012236-129012298
Coord C2 exon
chr9:129010670-129010693
Length
63 bp
Sequences
Splice sites
3' ss Seq
TGAACTCTGTTCCCCGCCAGACG
3' ss Score
7.2
5' ss Seq
GCGGTAAGC
5' ss Score
8.99
Exon sequences
Seq C1 exon
AAGGAGAGGCGGCTCCTCCAAAACCGGCGTCTGGACTTGGATGCCTGCAAAGCGAGGCTGAAGAAGGCCAAGGCTGCAGAAGCCAAAGCCACG
Seq A exon
ACGGTGCCTGACTTTCAGGAGACTAGACCTCGTAATTACATTCTCTCGGCCAGCGCCTCCGCG
Seq C2 exon
CTCTGGAATGATGAAGTGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341_MULTIEX3-3/4=1-4
Average complexity
C1*
Mappability confidence:
92%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.019 A=0.143 C2=0.000
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(11.8=100),PF0313112=bZIP_Maf=FE(33.3=100)
A:
PF0311413=BAR=FE(7.1=100)
C2:
PF0311413=BAR=FE(2.7=100),PF0313112=bZIP_Maf=FE(7.8=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCGGCTCCTCCAAAACC
R:
TGTCCACTTCATCATTCCAGAG
Band lengths:
108-171
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development