HsaEX0057552 @ hg38
Exon Skipping
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog like [Source:HGNC Symbol;Acc:HGNC:10763]
Coordinates
chr22:26347719-26365566:+
Coord C1 exon
chr22:26347719-26347913
Coord A exon
chr22:26351052-26351243
Coord C2 exon
chr22:26365372-26365566
Length
192 bp
Sequences
Splice sites
3' ss Seq
TCTGGTTTCATCCCGTGTAGTTA
3' ss Score
5.48
5' ss Seq
TTTGTGAGT
5' ss Score
5.91
Exon sequences
Seq C1 exon
AGGTATCAAGGAATGACTCCTGCTCGGATTTACCCGAGATCCAGAATGGCTGGAAAACCACTTCTCACACGGAGTTGGTGCGGGGAGCCAGAATCACCTACCAGTGTGACCCCGGCTATGACATCGTGGGGAGTGACACCCTCACCTGCCAGTGGGACCTCAGCTGGAGCAGCGACCCCCCATTTTGTGAGAAAA
Seq A exon
TTATGTACTGCACCGACCCCGGAGAGGTGGATCACTCGACCCGCTTAATTTCGGATCCTGTGCTGCTGGTGGGGACCACCATCCAATACACCTGCAACCCCGGTTTTGTGCTTGAAGGGAGTTCTCTTCTGACCTGCTACAGCCGTGAAACAGGGACTCCCATCTGGACGTCTCGCCTGCCCCACTGCGTTT
Seq C2 exon
CGGAGGAGTCCCTGGCATGTGACAACCCAGGGCTGCCTGAAAATGGATACCAAATCCTGTACAAGCGACTCTACCTGCCAGGAGAGTCCCTCACCTTCATGTGCTACGAAGGCTTTGAGCTCATGGGTGAAGTGACCATCCGCTGCATCCTGGGACAGCCATCCCACTGGAACGGGCCCCTGCCCGTGTGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095_MULTIEX1-2/5=1-3
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=84.8)
A:
PF0008415=Sushi=WD(100=92.3)
C2:
PF0008415=Sushi=WD(100=87.9)
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:
ATCACCTACCAGTGTGACCCC
R:
CGGATGGTCACTTCACCCATG
Band lengths:
245-437
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