HsaEX0057561 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29872409-29873431:-
Coord C1 exon
chr16:29873240-29873431
Coord A exon
chr16:29872705-29872743
Coord C2 exon
chr16:29872409-29872526
Length
39 bp
Sequences
Splice sites
3' ss Seq
TCCCCCTCCTCTCCCTGCAGTTG
3' ss Score
12.54
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
Exon sequences
Seq C1 exon
TGAAGTACGAGCCGTGCCTGAACCCGGGGGTTCCCGAGAATGGCTACCAGACGCTGTACAAGCACCACTACCAGGCGGGCGAGTCTCTGCGCTTCTTCTGCTATGAGGGCTTTGAGCTTATCGGCGAGGTCACCATCACCTGTGTGCCCGGCCACCCCTCCCAGTGGACCAGCCAGCCCCCACTCTGCAAAG
Seq A exon
TTGCCTATGAGGAGCTCCTGGACAACCGAAAACTGGAAG
Seq C2 exon
TGACCCAGACCACAGATCCATCACGGCAGCTGGAAGGGGGGAACCTGGCCCTGGCCATCCTGCTGCCTCTAGGCTTGGTCATTGTCCTCGGCAGTGGCGTTTACATCTACTACACCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX2-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.012 A=0.143 C2=0.135
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=89.2)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCTTCTTCTGCTATGAGGGC
R:
ATGGATCTGTGGTCTGGGTCA
Band lengths:
124-163
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