Special

HsaEX6021731 @ hg38

Exon Skipping

Gene
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28957947-28959472:-
Coord C1 exon
chr17:28959334-28959472
Coord A exon
chr17:28959025-28959221
Coord C2 exon
chr17:28957947-28958141
Length
197 bp
Sequences
Splice sites
3' ss Seq
CTGACGCTCCTCCTTCACAGGCT
3' ss Score
9.38
5' ss Seq
TTGGTGAGC
5' ss Score
7.43
Exon sequences
Seq C1 exon
CCGTGTGCAGCGGGGAGATCACAGACTCGGCTGGCGTGGTACTCTCTCCCAACTGGCCAGAGCCCTACGGTCGTGGGCAGGATTGTATCTGGGGTGTGCATGTGGAAGAGGACAAGCGCATCATGCTGGACATCCGAGT
Seq A exon
GCTGCGCATAGGCCCTGGTGATGTGCTTACCTTCTATGATGGGGATGACCTGACGGCCCGGGTTCTGGGCCAGTACTCAGGGCCCCGTAGCCACTTCAAGCTCTTTACCTCCATGGCTGATGTCACCATTCAGTTCCAGTCGGACCCCGGGACCTCAGTGCTGGGCTACCAGCAGGGCTTCGTCATCCACTTCTTTG
Seq C2 exon
AGGTGCCCCGCAATGACACATGTCCGGAGCTGCCTGAGATCCCCAATGGCTGGAAGAGCCCATCGCAGCCTGAGCTAGTGCACGGCACCGTGGTCACTTACCAGTGCTACCCTGGCTACCAGGTAGTGGGATCCAGTGTCCTCATGTGCCAGTGGGACCTAACTTGGAGTGAGGACCTGCCCTCATGCCAGAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015-'18-27,'18-26,19-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.009 A=0.000 C2=0.121
Domain overlap (PFAM):

C1:
PF0043115=CUB=PU(40.4=93.6)
A:
PF0043115=CUB=PD(58.7=95.5)
C2:
PF0008415=Sushi=WD(100=84.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTACTCTCTCCCAACTGGC
R:
ACACTGGATCCCACTACCTGG
Band lengths:
242-439
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains