Special

HsaEX0007950 @ hg19

Exon Skipping

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23615821-23627388:+
Coord C1 exon
chr22:23615821-23615961
Coord A exon
chr22:23626164-23626285
Coord C2 exon
chr22:23627220-23627388
Length
122 bp
Sequences
Splice sites
3' ss Seq
AGCCTTCCCTGTGCCTGCAGCAC
3' ss Score
8.23
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
GACTTGCTGAAGCACACTCCTGCCAGCCACCCTGACCACCCCTTGCTGCAGGACGCCCTCCGCATCTCACAGAACTTCCTGTCCAGCATCAATGAGGAGATCACACCCCGACGGCAGTCCATGACGGTGAAGAAGGGAGAG
Seq A exon
CACCGGCAGCTGCTGAAGGACAGCTTCATGGTGGAGCTGGTGGAGGGGGCCCGCAAGCTGCGCCACGTCTTCCTGTTCACCGACCTGCTTCTCTGCACCAAGCTCAAGAAGCAGAGCGGAGG
Seq C2 exon
CAAAACGCAGCAGTATGACTGCAAATGGTACATTCCGCTCACGGATCTCAGCTTCCAGATGGTGGATGAACTGGAGGCAGTGCCCAACATCCCCCTGGTGCCCGATGAGGAGCTGGACGCTTTGAAGATCAAGATCTCCCAGATCAAGAATGACATCCAGAGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.268 A=0.000 C2=0.012
Domain overlap (PFAM):

C1:
PF0062115=RhoGEF=PD(16.4=66.0),PF0016924=PH=PU(0.6=2.1)
A:
PF154111=PH_10=PU(78.0=95.1)
C2:
PF154111=PH_10=PD(20.0=35.7)


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)
HIGH PSI
(bcr)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAAGCACACTCCTGCCAG
R:
CGTCCAGCTCCTCATCGGG
Band lengths:
254-376
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