Special

HsaEX6021729 @ hg38

Exon Skipping

Gene
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28959334-28960671:-
Coord C1 exon
chr17:28960505-28960671
Coord A exon
chr17:28959698-28959892
Coord C2 exon
chr17:28959334-28959472
Length
195 bp
Sequences
Splice sites
3' ss Seq
CTGGGACCTGTGGTTTACAGCCT
3' ss Score
4.2
5' ss Seq
GAGGTCAGT
5' ss Score
7.7
Exon sequences
Seq C1 exon
GCTCATCATTCGCAATGGGGACAACGTGGAGGCCCCACCAGTGTATGATTCCTATGAGGTGGAATACCTGCCCATTGAGGGCCTGCTCAGCTCTGGCAAACACTTCTTTGTTGAGCTCAGTACTGACAGCAGCGGGGCAGCTGCAGGCATGGCCCTGCGCTATGAGG
Seq A exon
CCTTCCAGCAGGGCCATTGCTATGAGCCCTTTGTCAAATACGGTAACTTCAGCAGCAGCACACCCACCTACCCTGTGGGTACCACTGTGGAGTTCAGCTGCGACCCTGGCTACACCCTGGAGCAGGGCTCCATCATCATCGAGTGTGTTGACCCCCACGACCCCCAGTGGAATGAGACAGAGCCAGCCTGCCGAG
Seq C2 exon
CCGTGTGCAGCGGGGAGATCACAGACTCGGCTGGCGTGGTACTCTCTCCCAACTGGCCAGAGCCCTACGGTCGTGGGCAGGATTGTATCTGGGGTGTGCATGTGGAAGAGGACAAGCGCATCATGCTGGACATCCGAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015-'14-25,'14-22,17-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.006 A=0.032 C2=0.009
Domain overlap (PFAM):

C1:
PF0043115=CUB=PD(49.5=94.7)
A:
PF0008415=Sushi=WD(100=87.9)
C2:
PF0043115=CUB=PU(40.4=93.6)


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:
AGGCCCCACCAGTGTATGATT
R:
CCACATGCACACCCCAGATAC
Band lengths:
243-438
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains