Special

HsaEX0058032 @ hg19

Exon Skipping

Gene
ENSG00000148341 | SH3GLB2
Description
SH3-domain GRB2-like endophilin B2 [Source:HGNC Symbol;Acc:10834]
Coordinates
chr9:131777050-131783498:-
Coord C1 exon
chr9:131783370-131783498
Coord A exon
chr9:131778019-131778143
Coord C2 exon
chr9:131777050-131777183
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[94=100])
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0311413=BAR=FE(15.4=100)
A:
PF139001=GVQW=WD(100=75.0)
C2:
PF0311413=BAR=FE(17.3=100),PF0313112=bZIP_Maf=PU(30.0=60.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
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