HsaEX6026175 @ hg38
Exon Skipping
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog like [Source:HGNC Symbol;Acc:HGNC:10763]
Coordinates
chr22:26313764-26347913:+
Coord C1 exon
chr22:26313764-26313902
Coord A exon
chr22:26340436-26340632
Coord C2 exon
chr22:26347719-26347913
Length
197 bp
Sequences
Splice sites
3' ss Seq
CCTCTTCTCTGCCCTCCAAGCCT
3' ss Score
4.9
5' ss Seq
TAGGTAGGT
5' ss Score
7.92
Exon sequences
Seq C1 exon
CCATGTGTGGTGGGGAGCTCTCTGCTGTGGCTGGGGTGGTATTGTCCCCAAACTGGCCCGAGCCCTACGTGGAAGGTGAAGATTGTATCTGGAAGATCCACGTGGGAGAAGAGAAACGGATCTTCTTAGATATCCAGTT
Seq A exon
CCTGAATCTGAGCAACAGTGACATCTTGACCATCTACGATGGCGACGAGGTCATGCCCCACATCTTGGGGCAGTACCTTGGGAACAGTGGCCCCCAGAAACTGTACTCCTCCACGCCAGACTTAACCATCCAGTTCCATTCGGACCCTGCTGGCCTCATCTTTGGAAAGGGCCAGGGATTTATCATGAACTACATAG
Seq C2 exon
AGGTATCAAGGAATGACTCCTGCTCGGATTTACCCGAGATCCAGAATGGCTGGAAAACCACTTCTCACACGGAGTTGGTGCGGGGAGCCAGAATCACCTACCAGTGTGACCCCGGCTATGACATCGTGGGGAGTGACACCCTCACCTGCCAGTGGGACCTCAGCTGGAGCAGCGACCCCCCATTTTGTGAGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095-'15-22,'15-18,17-22
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.000 C2=0.000
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 Skipping Isoform:
ENST00000248933fB25553
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:
GGGTGGTATTGTCCCCAAACT
R:
TGTCACTCCCCACGATGTCAT
Band lengths:
244-441
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains