HsaEX6025983 @ hg38
Exon Skipping
Gene
ENSG00000186716 | BCR
Description
BCR, RhoGEF and GTPase activating protein [Source:HGNC Symbol;Acc:HGNC:1014]
Coordinates
chr22:23268408-23295155:+
Coord C1 exon
chr22:23268408-23268515
Coord A exon
chr22:23271532-23271592
Coord C2 exon
chr22:23295024-23295155
Length
61 bp
Sequences
Splice sites
3' ss Seq
ATGCGCTTTTCTCTCTGCAGAAC
3' ss Score
11.93
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GCCAGCCAGCTGGGTGTGTACCGGGCCTTCGTGGACAACTACGGAGTTGCCATGGAAATGGCTGAGAAGTGCTGTCAGGCCAATGCTCAGTTTGCAGAAATCTCCGAG
Seq A exon
AACCTGAGAGCCAGAAGCAACAAAGATGCCAAGGATCCAACGACCAAGAACTCTCTGGAAA
Seq C2 exon
GAATTTGAGATAGAGCTGGAGGGCTCCCAGACCCTGAGGATACTGTGCTATGAAAAGTGTTACAACAAGACGAAGATCCCCAAGGAGGACGGCGAGAGCACGGACAGACTCATGGGGAAGGGCCAGGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716_MULTIEX1-3/15=2-13
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.590 C2=0.144
Domain overlap (PFAM):
C1:
PF0062115=RhoGEF=FE(18.5=100)
A:
PF0062115=RhoGEF=PD(8.7=38.1),PF0062115=RhoGEF=PU(28.6=95.2)
C2:
PF0016825=C2=PD(44.3=88.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGTGCTGTCAGGCCAATG
R:
CCTCCTTGGGGATCTTCGTCT
Band lengths:
132-193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains