HsaEX0057553 @ hg19
Exon Skipping
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog (mouse)-like [Source:HGNC Symbol;Acc:10763]
Coordinates
chr22:26747018-26769449:+
Coord C1 exon
chr22:26747018-26747209
Coord A exon
chr22:26761338-26761532
Coord C2 exon
chr22:26769417-26769449
Length
195 bp
Sequences
Splice sites
3' ss Seq
CCTTCTGGCTTGCATTTCAGCGG
3' ss Score
8.85
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
TTATGTACTGCACCGACCCCGGAGAGGTGGATCACTCGACCCGCTTAATTTCGGATCCTGTGCTGCTGGTGGGGACCACCATCCAATACACCTGCAACCCCGGTTTTGTGCTTGAAGGGAGTTCTCTTCTGACCTGCTACAGCCGTGAAACAGGGACTCCCATCTGGACGTCTCGCCTGCCCCACTGCGTTT
Seq A exon
CGGAGGAGTCCCTGGCATGTGACAACCCAGGGCTGCCTGAAAATGGATACCAAATCCTGTACAAGCGACTCTACCTGCCAGGAGAGTCCCTCACCTTCATGTGCTACGAAGGCTTTGAGCTCATGGGTGAAGTGACCATCCGCTGCATCCTGGGACAGCCATCCCACTGGAACGGGCCCCTGCCCGTGTGTAAAG
Seq C2 exon
TTAATCAAGACAGTTTTGAACATGCTTTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095_MULTIEX1-2/4=1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=92.3)
A:
PF0008415=Sushi=WD(100=87.9)
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTATGTACTGCACCGACCCCG
R:
AAGCATGTTCAAAACTGTCTTGA
Band lengths:
219-414
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)