HsaEX6043109 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29873538-29880064:-
Coord C1 exon
chr16:29879864-29880064
Coord A exon
chr16:29878287-29878425
Coord C2 exon
chr16:29873538-29873729
Length
139 bp
Sequences
Splice sites
3' ss Seq
TGACACCCCTTTTTCCCTAGCCA
3' ss Score
7.16
5' ss Seq
GATGTATGT
5' ss Score
6.31
Exon sequences
Seq C1 exon
CCTTTGAGGAGGATCGCTGCTTCGCCCCCTTCCTGGCACATGGAAATGTCACTACCACGGACCCTGAGTATCGCCCAGGGGCACTGGCAACCTTCTCGTGCCTCCCAGGATATGCCCTGGAGCCCCCTGGGCCCCCCAATGCCATCGAATGTGTGGATCCCACAGAACCCCACTGGAACGACACAGAGCCGGCCTGCAAAG
Seq A exon
CCATGTGTGGAGGGGAGCTGTCGGAACCAGCTGGCGTGGTCCTCTCTCCCGACTGGCCCCAGAGCTATAGCCCGGGCCAAGACTGCGTGTGGGGCGTGCACGTCCAGGAAGAGAAGCGCATCTTGCTCCAAGTTGAGAT
Seq C2 exon
TCATGACTTGTGCTGACCCTGGCGAGATTGCCAACGGGCACCGCACCGCCTCGGACGCCGGCTTCCCCGTTGGCTCCCACGTCCAGTACCGCTGCCTGCCAGGGTACAGCCTCGAGGGGGCAGCCATGCTCACCTGCTACAGCCGGGACACAGGCACACCCAAGTGGAGCGATAGGGTCCCCAAATGCGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX2-2/7=1-5
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.294 A=0.103 C2=0.046
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=88.2)
A:
PF0043115=CUB=PU(40.4=93.6)
C2:
PF0008415=Sushi=WD(100=92.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCAATGCCATCGAATGTGT
R:
CTATCGCTCCACTTGGGTGTG
Band lengths:
243-382
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains