Special

HsaEX6025977 @ hg19

Exon Skipping

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23653884-23656260:+
Coord C1 exon
chr22:23653884-23654023
Coord A exon
chr22:23655074-23655208
Coord C2 exon
chr22:23656155-23656260
Length
135 bp
Sequences
Splice sites
3' ss Seq
CATTTCCGTGCTCTTTCCAGATA
3' ss Score
10.19
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
Exon sequences
Seq C1 exon
GAGAGAGAGGTCCAAGGTGCCCTACATCGTGCGCCAGTGCGTGGAGGAGATCGAGCGCCGAGGCATGGAGGAGGTGGGCATCTACCGCGTGTCCGGTGTGGCCACGGACATCCAGGCACTGAAGGCAGCCTTCGACGTCA
Seq A exon
ATAACAAGGACGTGTCGGTGATGATGAGCGAGATGGACGTGAACGCCATCGCAGGCACGCTGAAGCTGTACTTCCGTGAGCTGCCCGAGCCCCTCTTCACTGACGAGTTCTACCCCAACTTCGCAGAGGGCATCG
Seq C2 exon
CTCTTTCAGACCCGGTTGCAAAGGAGAGCTGCATGCTCAACCTGCTGCTGTCCCTGCCGGAGGCCAACCTGCTCACCTTCCTTTTCCTTCTGGACCACCTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-'42-51,'42-50,44-51=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0062022=RhoGAP=PU(26.1=83.3)
A:
PF0062022=RhoGAP=FE(29.4=100)
C2:
PF0062022=RhoGAP=FE(22.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
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:
GAGAGAGAGGTCCAAGGTGCC
R:
CTTTTCAGGTGGTCCAGAAGGA
Band lengths:
246-381
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains