HsaEX0058032 @ hg38
Exon Skipping
Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129014771-129021219:-
Coord C1 exon
chr9:129021091-129021219
Coord A exon
chr9:129015740-129015864
Coord C2 exon
chr9:129014771-129014904
Length
125 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTCTTTTTTTTAAAGACA
3' ss Score
7.32
5' ss Seq
CAGGTGTGA
5' ss Score
5.29
Exon sequences
Seq C1 exon
GTGCCCGAGTGGAGGAGTTCCTGTATGAGAAGCTGGACAGGAAGGTCCCCTCAAGGGTCACCAACGGGGAGCTGCTGGCTCAGTACATGGCAGACGCGGCCAGTGAGCTGGGGCCGACCACCCCCTATG
Seq A exon
ACAGGATCTTGCTGTGTCACCCAGACTGGAGTGCAGTGGTGCAATCATAGCTTACTACTATAGCCTCAAACTCCTGGGTTCAAATGATCCTTCCGCCTGGGCCTCCCAGAGTATTGGGATTACAG
Seq C2 exon
GGAAGACACTGATCAAGGTGGCAGAAGCTGAAAAGCAACTGGGAGCCGCGGAGAGGGATTTTATCCACACGGCCTCCATCAGCTTCCTCACACCCTTGCGCAACTTCCTGGAGGGGGACTGGAAGACCATCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341_MULTIEX2-2/2=C1-C2
Average complexity
ME(1-2[95=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(15.4=100)
A:
NO
C2:
PF0311413=BAR=FE(17.3=100),PF0313112=bZIP_Maf=PU(30.0=60.0)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCCGAGTGGAGGAGTTC
R:
CAGTCCCCCTCCAGGAAGTTG
Band lengths:
249-374
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