Special

HsaEX6025985 @ hg19

Exon Skipping

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23595986-23603615:+
Coord C1 exon
chr22:23595986-23596167
Coord A exon
chr22:23603137-23603241
Coord C2 exon
chr22:23603542-23603615
Length
105 bp
Sequences
Splice sites
3' ss Seq
TCTGTCTATTTCTCCTGCAGAGT
3' ss Score
11.51
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
Exon sequences
Seq C1 exon
ATGGCTCGTTCGGAACACCACCTGGATACGGCTGCGCTGCAGACCGGGCAGAGGAGCAGCGCCGGCACCAAGATGGGCTGCCCTACATTGATGACTCGCCCTCCTCATCGCCCCACCTCAGCAGCAAGGGCAGGGGCAGCCGGGATGCGCTGGTCTCGGGAGCCCTGGAGTCCACTAAAGCG
Seq A exon
AGTGAGCTGGACTTGGAAAAGGGCTTGGAGATGAGAAAATGGGTCCTGTCGGGAATCCTGGCTAGCGAGGAGACTTACCTGAGCCACCTGGAGGCACTGCTGCTG
Seq C2 exon
CCCATGAAGCCTTTGAAAGCCGCTGCCACCACCTCTCAGCCGGTGCTGACGAGTCAGCAGATCGAGACCATCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-'10-17,'10-16,12-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.831 A=0.003 C2=0.032
Domain overlap (PFAM):

C1:
NO
A:
PF0062115=RhoGEF=PU(10.6=57.1)
C2:
PF0062115=RhoGEF=FE(32.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGTTCGGAACACCACCTG
R:
TCTCGATCTGCTGACTCGTCA
Band lengths:
245-350
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains