HsaEX0057557 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29873538-29877467:-
Coord C1 exon
chr16:29877271-29877467
Coord A exon
chr16:29876756-29876950
Coord C2 exon
chr16:29873538-29873729
Length
195 bp
Sequences
Splice sites
3' ss Seq
TCGCCTTCCCTCCCCTGCAGAGG
3' ss Score
11.1
5' ss Seq
AGAGTGAGC
5' ss Score
4.22
Exon sequences
Seq C1 exon
ATTGAATGTGCGGGAAGGGGACATGCTGACGCTGTTCGACGGGGACGGTCCCAGCGCCCGAGTCTTGGCCCAGCTGCGGGGACCTCAGCCGCGCCGCCGCCTTCTCTCCTCTGGGCCCGACCTCACACTGCAGTTTCAGGCACCGCCCGGGCCCCCAAATCCAGGCCTGGGCCAGGGCTTCGTATTGCACTTCAAAG
Seq A exon
AGGTCCCGAGGAACGACACGTGCCCCGAGCTGCCACCTCCGGAGTGGGGCTGGAGAACGGCATCCCACGGGGACCTGATCCGGGGCACGGTGCTCACCTACCAGTGCGAGCCTGGCTACGAGCTGCTAGGCTCCGACATTCTCACTTGCCAGTGGGACCTGTCTTGGAGCGCCGCGCCGCCCGCCTGCCAAAAGA
Seq C2 exon
TCATGACTTGTGCTGACCCTGGCGAGATTGCCAACGGGCACCGCACCGCCTCGGACGCCGGCTTCCCCGTTGGCTCCCACGTCCAGTACCGCTGCCTGCCAGGGTACAGCCTCGAGGGGGCAGCCATGCTCACCTGCTACAGCCGGGACACAGGCACACCCAAGTGGAGCGATAGGGTCCCCAAATGCGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX2-4/7=3-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.481 A=0.123 C2=0.046
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(58.7=95.5)
A:
PF0008415=Sushi=WD(100=84.8)
C2:
PF0008415=Sushi=WD(100=92.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCACACTGCAGTTTCAGGCA
R:
CTATCGCTCCACTTGGGTGTG
Band lengths:
251-446
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