Special

HsaINT0149372 @ hg38

Intron Retention

Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129010120-129010693:-
Coord C1 exon
chr9:129010670-129010693
Coord A exon
chr9:129010210-129010669
Coord C2 exon
chr9:129010120-129010209
Length
460 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
GGCTGCCCTGCCCTGCCCAGGCC
3' ss Score
6.96
Exon sequences
Seq C1 exon
CTCTGGAATGATGAAGTGGACAAG
Seq A exon
GTAAGTTGGGGCCTGGGGGGCTGGGCTCGAGGAAGAAGGGGTGGCGGGGTGCAGGCACACTTGCTGCTGTGGGGTCTGATCTGTTTCTCACTCTGCCCCACACCCACTGGGGAGGGGTTACTGCTTTCCCTCCCTGGGCCTCAGTTTCCCCTCTGTGGGGAAATGTTTTCTCCACAGTACCCTGTAGCACACAGTAGGCCCTCAGGATGCACTTGCTGGGTGGATTTCTCCGATGGGTGATGGAGGAAGGGTCTGTCACTGCAGCTGCCTGTGGGGTCCTGAGTGGGGCTCTAGCTTCTCTGGGGTTGGGGCTCCAGGTGTGAAGTCAGGCATAGACCCAGAAGGCTCTCTGTGTTCCCAGGGGAAAGGGACAGGCGGCTCCCAGGTAGGCTCCAGGAGAAGACTGCGGGGAAGCTGGTGGGTGGTGTGTGGGTGCTCATGGCTGCCCTGCCCTGCCCAG
Seq C2 exon
GCCGAGCAGGAGCTCCGCGTGGCCCAGACAGAGTTTGACCGGCAAGCAGAAGTGACCCGTCTCTTGCTGGAGGGAATCAGTAGCACTCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341:ENST00000372564:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.167
Domain overlap (PFAM):

C1:
PF0311413=BAR=FE(2.7=100),PF0313112=bZIP_Maf=FE(7.8=100)
A:
NA
C2:
PF0311413=BAR=FE(11.4=100),PF0313112=bZIP_Maf=PD(24.4=73.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains