HsaINT0149374 @ hg38
Intron Retention
Gene
ENSG00000148341 | SH3GLB2
Description
SH3 domain containing GRB2 like endophilin B2 [Source:HGNC Symbol;Acc:HGNC:10834]
Coordinates
chr9:129009106-129009871:-
Coord C1 exon
chr9:129009771-129009871
Coord A exon
chr9:129009347-129009770
Coord C2 exon
chr9:129009106-129009346
Length
424 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGG
5' ss Score
9.13
3' ss Seq
GATGTATCCCTCCTCTCCAGATT
3' ss Score
8.33
Exon sequences
Seq C1 exon
GTGAACCACCTGCGCTGCCTCCACGAGTTCGTCAAGTCTCAGACAACCTACTACGCACAGTGCTACCGCCACATGCTGGACTTGCAGAAGCAGCTGGGCAG
Seq A exon
GTGCGGGGCCAGCACTGCTGAACCCACTGGGGCCCCCTGGCTCCCATACCCTGTCCGTGGGCAGCATGAGCTCCTCTGGGCAAGTCCTGTGACACAAAGCTGGGTTGGAGGGCTCTGCTGGAACCCACTCTGGGTGCGGGCATCTCATGTGTATGAGGGTGGAGTGGCTGGCCTTACTGACGGCCAAGTCCCCTGGAGCCCCTGAGGGTTTCTAGGGAATGCCTGGGTGGGGAGGATGGCAGGGACCAGGGGGTGGGGCCATCTCACCCTTCCCTTGCTTTGCTTTTCCCTTTGTGCTGCCAGCTCCCAGGGTGCCATGTGAGTAGCCGGGGCTGGAGTGGGGCTCCTGGGGCTGGGGAGGGGAGTTTGCCTCTGGGGTCCCTTCTGGGACTCCCACCTGCTAAGATGTATCCCTCCTCTCCAG
Seq C2 exon
ATTTCCCGGCACCTTCGTGGGCACCACAGAGCCCGCCTCCCCACCCCTGAGCAGCACCTCACCCACCACTGCTGCGGCCACTATGCCTGTGGTGCCCTCTGTGGCCAGCCTGGCCCCTCCGGGGGAGGCCTCGCTCTGCCTGGAAGAGGTGGCCCCCCCTGCCAGTGGGACCCGCAAAGCTCGGGTGCTCTATGACTACGAGGCAGCCGACAGCAGTGAGCTGGCCCTGCTGGCTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148341:ENST00000372564:9
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=0.304
Domain overlap (PFAM):
C1:
PF0311413=BAR=FE(11.8=100)
A:
NA
C2:
PF0311413=BAR=PD(0.1=0.0),PF146041=SH3_9=PU(35.3=22.2)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAACCACCTGCGCTGC
R:
AGCAGGGCCAGCTCACTG
Band lengths:
332-756
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains