HsaEX0057560 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29872705-29873729:-
Coord C1 exon
chr16:29873538-29873729
Coord A exon
chr16:29873240-29873431
Coord C2 exon
chr16:29872705-29872743
Length
192 bp
Sequences
Splice sites
3' ss Seq
GACTGGCATGCTCCCCGCAGTGA
3' ss Score
6.22
5' ss Seq
AAGGTGCCT
5' ss Score
5.39
Exon sequences
Seq C1 exon
TCATGACTTGTGCTGACCCTGGCGAGATTGCCAACGGGCACCGCACCGCCTCGGACGCCGGCTTCCCCGTTGGCTCCCACGTCCAGTACCGCTGCCTGCCAGGGTACAGCCTCGAGGGGGCAGCCATGCTCACCTGCTACAGCCGGGACACAGGCACACCCAAGTGGAGCGATAGGGTCCCCAAATGCGCCT
Seq A exon
TGAAGTACGAGCCGTGCCTGAACCCGGGGGTTCCCGAGAATGGCTACCAGACGCTGTACAAGCACCACTACCAGGCGGGCGAGTCTCTGCGCTTCTTCTGCTATGAGGGCTTTGAGCTTATCGGCGAGGTCACCATCACCTGTGTGCCCGGCCACCCCTCCCAGTGGACCAGCCAGCCCCCACTCTGCAAAG
Seq C2 exon
TTGCCTATGAGGAGCTCCTGGACAACCGAAAACTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX2-6/7=5-7
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.046 A=0.012 C2=0.143
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=92.3)
A:
PF0008415=Sushi=WD(100=89.2)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGACTTGTGCTGACCCTGG
R:
CCAGTTTTCGGTTGTCCAGGA
Band lengths:
227-419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development