Special

HsaEX0058026 @ hg38

Exon Skipping

Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129014771-129022423:-
Coord C1 exon
chr9:129022282-129022423
Coord A exon
chr9:129021091-129021219
Coord C2 exon
chr9:129014771-129014904
Length
129 bp
Sequences
Splice sites
3' ss Seq
TGGCTGCTGTCTCCCCACAGGTG
3' ss Score
13.92
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
TTCACGGAGGAGAAATTTGGCCAGGCTGAGAAGACTGAGCTTGATGCCCACTTTGAAAACCTTCTGGCCCGGGCAGACAGCACCAAGAACTGGACAGAGAAGATCTTGAGGCAGACAGAGGTGCTGCTGCAGCCCAACCCCA
Seq A exon
GTGCCCGAGTGGAGGAGTTCCTGTATGAGAAGCTGGACAGGAAGGTCCCCTCAAGGGTCACCAACGGGGAGCTGCTGGCTCAGTACATGGCAGACGCGGCCAGTGAGCTGGGGCCGACCACCCCCTATG
Seq C2 exon
GGAAGACACTGATCAAGGTGGCAGAAGCTGAAAAGCAACTGGGAGCCGCGGAGAGGGATTTTATCCACACGGCCTCCATCAGCTTCCTCACACCCTTGCGCAACTTCCTGGAGGGGGACTGGAAGACCATCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341-'9-13,'9-3,11-13
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.005 C2=0.000
Domain overlap (PFAM):

C1:
PF0311413=BAR=FE(16.8=100)
A:
PF0311413=BAR=FE(15.4=100)
C2:
PF0311413=BAR=FE(17.3=100),PF0313112=bZIP_Maf=PU(30.0=60.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGAAATTTGGCCAGGCTG
R:
CAGTCCCCCTCCAGGAAGTTG
Band lengths:
256-385
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development