HsaEX0058029 @ hg38
Exon Skipping
Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129009106-129009792:-
Coord C1 exon
chr9:129009692-129009792
Coord A exon
chr9:129009453-129009467
Coord C2 exon
chr9:129009106-129009346
Length
15 bp
Sequences
Splice sites
3' ss Seq
TTTTCCCTTTGTGCTGCCAGCTC
3' ss Score
8.11
5' ss Seq
CATGTGAGT
5' ss Score
7.83
Exon sequences
Seq C1 exon
ACTTGCAGAAGCAGCTGGGCAGGTGCGGGGCCAGCACTGCTGAACCCACTGGGGCCCCCTGGCTCCCATACCCTGTCCGTGGGCAGCATGAGCTCCTCTGG
Seq A exon
CTCCCAGGGTGCCAT
Seq C2 exon
ATTTCCCGGCACCTTCGTGGGCACCACAGAGCCCGCCTCCCCACCCCTGAGCAGCACCTCACCCACCACTGCTGCGGCCACTATGCCTGTGGTGCCCTCTGTGGCCAGCCTGGCCCCTCCGGGGGAGGCCTCGCTCTGCCTGGAAGAGGTGGCCCCCCCTGCCAGTGGGACCCGCAAAGCTCGGGTGCTCTATGACTACGAGGCAGCCGACAGCAGTGAGCTGGCCCTGCTGGCTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341-'36-35,'36-34,37-35
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.304
Domain overlap (PFAM):
C1:
NA
A:
PF0311413=BAR=PD(0.1=0.0)
C2:
PF0311413=BAR=PD(0.1=0.0),PF146041=SH3_9=PU(35.3=22.2)
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCATACCCTGTCCGTGG
R:
AGTGGTGGGTGAGGTGCTG
Band lengths:
109-124
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