Special

HsaEX6025980 @ hg19

Exon Skipping

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23626164-23629465:+
Coord C1 exon
chr22:23626164-23626285
Coord A exon
chr22:23627220-23627388
Coord C2 exon
chr22:23629346-23629465
Length
169 bp
Sequences
Splice sites
3' ss Seq
TCTTCTCTCCCCATCCCCAGCAA
3' ss Score
8.65
5' ss Seq
AAGGTGCAC
5' ss Score
4.22
Exon sequences
Seq C1 exon
CACCGGCAGCTGCTGAAGGACAGCTTCATGGTGGAGCTGGTGGAGGGGGCCCGCAAGCTGCGCCACGTCTTCCTGTTCACCGACCTGCTTCTCTGCACCAAGCTCAAGAAGCAGAGCGGAGG
Seq A exon
CAAAACGCAGCAGTATGACTGCAAATGGTACATTCCGCTCACGGATCTCAGCTTCCAGATGGTGGATGAACTGGAGGCAGTGCCCAACATCCCCCTGGTGCCCGATGAGGAGCTGGACGCTTTGAAGATCAAGATCTCCCAGATCAAGAATGACATCCAGAGAGAGAAG
Seq C2 exon
AGGGCGAACAAGGGCAGCAAGGCTACGGAGAGGCTGAAGAAGAAGCTGTCGGAGCAGGAGTCACTGCTGCTGCTTATGTCTCCCAGCATGGCCTTCAGGGTGCACAGCCGCAACGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-'24-31,'24-30,26-31=AN
Average complexity
A_S
Mappability confidence:
88%=100=75%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.012 C2=0.250
Domain overlap (PFAM):

C1:
PF154111=PH_10=PU(78.0=95.1)
A:
PF0016924=PH=FE(34.4=100)
C2:
PF0016924=PH=FE(23.9=100)


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:
GGCAGCTGCTGAAGGACA
R:
CGGCTGTGCACCCTGAAG
Band lengths:
228-397
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains