Special

HsaEX0007946 @ hg38

Exon Skipping

Gene
Description
BCR, RhoGEF and GTPase activating protein [Source:HGNC Symbol;Acc:HGNC:1014]
Coordinates
chr22:23290339-23295155:+
Coord C1 exon
chr22:23290339-23290413
Coord A exon
chr22:23292541-23292638
Coord C2 exon
chr22:23295024-23295155
Length
98 bp
Sequences
Splice sites
3' ss Seq
ATGTCCACTTCTCCCCACAGATC
3' ss Score
12.19
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
ATGATGAGTCTCCGGGGCTCTATGGGTTTCTGAATGTCATCGTCCACTCAGCCACTGGATTTAAGCAGAGTTCAA
Seq A exon
ATCTGTACTGCACCCTGGAGGTGGATTCCTTTGGGTATTTTGTGAATAAAGCAAAGACGCGCGTCTACAGGGACACAGCTGAGCCAAACTGGAACGAG
Seq C2 exon
GAATTTGAGATAGAGCTGGAGGGCTCCCAGACCCTGAGGATACTGTGCTATGAAAAGTGTTACAACAAGACGAAGATCCCCAAGGAGGACGGCGAGAGCACGGACAGACTCATGGGGAAGGGCCAGGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716_MULTIEX1-12/15=11-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.144
Domain overlap (PFAM):

C1:
PF0016825=C2=PU(17.0=57.7)
A:
PF0016825=C2=FE(36.4=100)
C2:
PF0016825=C2=PD(44.3=88.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
CGGGGCTCTATGGGTTTCTGA
R:
CTTCCCCATGAGTCTGTCCGT
Band lengths:
183-281
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