Special

HsaEX0007949 @ hg38

Exon Skipping

Gene
Description
BCR, RhoGEF and GTPase activating protein [Source:HGNC Symbol;Acc:HGNC:1014]
Coordinates
chr22:23261355-23271592:+
Coord C1 exon
chr22:23261355-23261540
Coord A exon
chr22:23268408-23268515
Coord C2 exon
chr22:23271532-23271592
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCTTCCTTCCTCCCCCTCAGGCC
3' ss Score
11.66
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
CCCATGAAGCCTTTGAAAGCCGCTGCCACCACCTCTCAGCCGGTGCTGACGAGTCAGCAGATCGAGACCATCTTCTTCAAAGTGCCTGAGCTCTACGAGATCCACAAGGAGTTCTATGATGGGCTCTTCCCCCGCGTGCAGCAGTGGAGCCACCAGCAGCGGGTGGGCGACCTCTTCCAGAAGCTG
Seq A exon
GCCAGCCAGCTGGGTGTGTACCGGGCCTTCGTGGACAACTACGGAGTTGCCATGGAAATGGCTGAGAAGTGCTGTCAGGCCAATGCTCAGTTTGCAGAAATCTCCGAG
Seq C2 exon
AACCTGAGAGCCAGAAGCAACAAAGATGCCAAGGATCCAACGACCAAGAACTCTCTGGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716_MULTIEX1-2/15=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.030 A=0.000 C2=0.590
Domain overlap (PFAM):

C1:
PF0062115=RhoGEF=FE(32.3=100)
A:
PF0062115=RhoGEF=FE(18.5=100)
C2:
PF0062115=RhoGEF=PD(8.7=38.1),PF0062115=RhoGEF=PU(28.6=95.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(BCR)
Chicken
(galGal3)
HIGH PSI
(BCR)
Zebrafish
(danRer10)
ALTERNATIVE
(bcr)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGAAGCCTTTGAAAGCCGC
R:
CCAGAGAGTTCTTGGTCGTTGG
Band lengths:
242-350
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