HsaEX0058030 @ hg38
Exon Skipping
Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129012236-129014503:-
Coord C1 exon
chr9:129014411-129014503
Coord A exon
chr9:129013008-129013019
Coord C2 exon
chr9:129012236-129012298
Length
12 bp
Sequences
Splice sites
3' ss Seq
CTTTGGGTAACTTGGCTCAGTGT
3' ss Score
1.14
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
AAGGAGAGGCGGCTCCTCCAAAACCGGCGTCTGGACTTGGATGCCTGCAAAGCGAGGCTGAAGAAGGCCAAGGCTGCAGAAGCCAAAGCCACG
Seq A exon
TGTGAGGGAGAT
Seq C2 exon
ACGGTGCCTGACTTTCAGGAGACTAGACCTCGTAATTACATTCTCTCGGCCAGCGCCTCCGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341_MULTIEX3-2/4=1-3
Average complexity
C1
Mappability confidence:
100%=100=80%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.019 A=0.500 C2=0.143
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(11.8=100),PF0313112=bZIP_Maf=FE(33.3=100)
A:
PF0311413=BAR=FE(1.1=100)
C2:
PF0311413=BAR=FE(7.1=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAAGCGAGGCTGAAGAAG
R:
CGCTGGCCGAGAGAATGTAAT
Band lengths:
103-115
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