HsaEX6026177 @ hg38
Exon Skipping
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog like [Source:HGNC Symbol;Acc:HGNC:10763]
Coordinates
chr22:26310670-26313902:+
Coord C1 exon
chr22:26310670-26310836
Coord A exon
chr22:26311768-26311962
Coord C2 exon
chr22:26313764-26313902
Length
195 bp
Sequences
Splice sites
3' ss Seq
CCTCTCTTTCCCTTCCTCAGCGT
3' ss Score
10.12
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GATGACGGTTCACAGCGGGCAGACCAACAAGTCAGCTCTTCTCTACGACTCCCTTCAAACCGAGAGTGTCCCTTTTGAGGGCCTGCTGAGCGAAGGCAACACCATCCGCATCGAGTTCACGTCCGACCAGGCCCGGGCGGCCTCCACCTTCAACATCCGATTTGAAG
Seq A exon
CGTTTGAGAAAGGCCACTGCTATGAGCCCTACATCCAGAATGGGAACTTCACTACATCCGACCCGACCTATAACATTGGGACTATAGTGGAGTTCACCTGCGACCCCGGCCACTCCCTGGAGCAGGGCCCGGCCATCATCGAATGCATCAATGTGCGGGACCCATACTGGAATGACACAGAGCCCCTGTGCAGAG
Seq C2 exon
CCATGTGTGGTGGGGAGCTCTCTGCTGTGGCTGGGGTGGTATTGTCCCCAAACTGGCCCGAGCCCTACGTGGAAGGTGAAGATTGTATCTGGAAGATCCACGTGGGAGAAGAGAAACGGATCTTCTTAGATATCCAGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095-'12-16,'12-15,13-16=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.018 A=0.002 C2=0.005
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(50.0=94.7)
A:
PF0008415=Sushi=WD(100=87.9)
C2:
PF0043115=CUB=PU(40.4=93.6)
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:
ACGACTCCCTTCAAACCGAGA
R:
CCGTTTCTCTTCTCCCACGTG
Band lengths:
242-437
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains