Special

HsaEX6025981 @ hg38

Exon Skipping

Gene
Description
BCR, RhoGEF and GTPase activating protein [Source:HGNC Symbol;Acc:HGNC:1014]
Coordinates
chr22:23273081-23295155:+
Coord C1 exon
chr22:23273081-23273133
Coord A exon
chr22:23273634-23273774
Coord C2 exon
chr22:23295024-23295155
Length
141 bp
Sequences
Splice sites
3' ss Seq
AGTCTTTCTTCCTGGGGCAGGAC
3' ss Score
6.14
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
CTCTGCTCTACAAGCCTGTGGACCGTGTGACGAGGAGCACGCTGGTCCTCCAT
Seq A exon
GACTTGCTGAAGCACACTCCTGCCAGCCACCCTGACCACCCCTTGCTGCAGGACGCCCTCCGCATCTCACAGAACTTCCTGTCCAGCATCAATGAGGAGATCACACCCCGACGGCAGTCCATGACGGTGAAGAAGGGAGAG
Seq C2 exon
GAATTTGAGATAGAGCTGGAGGGCTCCCAGACCCTGAGGATACTGTGCTATGAAAAGTGTTACAACAAGACGAAGATCCCCAAGGAGGACGGCGAGAGCACGGACAGACTCATGGGGAAGGGCCAGGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716_MULTIEX1-5/15=4-13
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.272 C2=0.144
Domain overlap (PFAM):

C1:
PF0062115=RhoGEF=FE(24.3=100)
A:
PF0062115=RhoGEF=PD(16.4=66.0),PF0016924=PH=PU(0.6=2.1)
C2:
PF0016825=C2=PD(44.3=88.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(BCR)
Chicken
(galGal3)
HIGH PSI
(BCR)
Zebrafish
(danRer10)
HIGH PSI
(bcr)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTACAAGCCTGTGGACCGT
R:
CTGGACCTGGCCCTTCCC
Band lengths:
180-321
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains