HsaEX0057559 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29878287-29885749:-
Coord C1 exon
chr16:29885586-29885749
Coord A exon
chr16:29879864-29880064
Coord C2 exon
chr16:29878287-29878425
Length
201 bp
Sequences
Splice sites
3' ss Seq
TATGACTGACTCCTTCCCAGCCT
3' ss Score
4.14
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GCTGATGGTGCGCTCAGGGGGCAGCCCCCTATCCCCCGTGATCTATGATTCGGACATGGACGATGTCCCCGAGCGGGGTCTCATCAGTGACGCCCAGTCCCTCTACGTGGAGCTGCTGTCAGAGACACCTGCCAATCCCCTGCTGTTAAGCCTTCGATTTGAAG
Seq A exon
CCTTTGAGGAGGATCGCTGCTTCGCCCCCTTCCTGGCACATGGAAATGTCACTACCACGGACCCTGAGTATCGCCCAGGGGCACTGGCAACCTTCTCGTGCCTCCCAGGATATGCCCTGGAGCCCCCTGGGCCCCCCAATGCCATCGAATGTGTGGATCCCACAGAACCCCACTGGAACGACACAGAGCCGGCCTGCAAAG
Seq C2 exon
CCATGTGTGGAGGGGAGCTGTCGGAACCAGCTGGCGTGGTCCTCTCTCCCGACTGGCCCCAGAGCTATAGCCCGGGCCAAGACTGCGTGTGGGGCGTGCACGTCCAGGAAGAGAAGCGCATCTTGCTCCAAGTTGAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX2-1/7=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.163 A=0.294 C2=0.103
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(43.3=75.0)
A:
PF0008415=Sushi=WD(100=88.2)
C2:
PF0043115=CUB=PU(40.4=93.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGATGGTGCGCTCAGG
R:
TCTCAACTTGGAGCAAGATGC
Band lengths:
302-503
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development