Special

HsaEX6025982 @ hg19

Exon Skipping

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23613719-23615961:+
Coord C1 exon
chr22:23613719-23613779
Coord A exon
chr22:23615268-23615320
Coord C2 exon
chr22:23615821-23615961
Length
53 bp
Sequences
Splice sites
3' ss Seq
CCTCCCCTCTCTCTCCACAGCTC
3' ss Score
14.45
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
AACCTGAGAGCCAGAAGCAACAAAGATGCCAAGGATCCAACGACCAAGAACTCTCTGGAAA
Seq A exon
CTCTGCTCTACAAGCCTGTGGACCGTGTGACGAGGAGCACGCTGGTCCTCCAT
Seq C2 exon
GACTTGCTGAAGCACACTCCTGCCAGCCACCCTGACCACCCCTTGCTGCAGGACGCCCTCCGCATCTCACAGAACTTCCTGTCCAGCATCAATGAGGAGATCACACCCCGACGGCAGTCCATGACGGTGAAGAAGGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-'20-22,'20-21,21-22=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.571 A=0.000 C2=0.268
Domain overlap (PFAM):

C1:
PF0062115=RhoGEF=PD(8.7=38.1),PF0062115=RhoGEF=PU(28.6=95.2)
A:
PF0062115=RhoGEF=FE(24.3=100)
C2:
PF0062115=RhoGEF=PD(16.4=66.0),PF0016924=PH=PU(0.6=2.1)


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:
GATGCCAAGGATCCAACGACC
R:
TCGGGGTGTGATCTCCTCATT
Band lengths:
148-201
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains