HsaEX0057558 @ hg19
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29906580-29908442:-
Coord C1 exon
chr16:29908143-29908442
Coord A exon
chr16:29907042-29907181
Coord C2 exon
chr16:29906580-29906781
Length
140 bp
Sequences
Splice sites
3' ss Seq
AGCCATTTGTATCTCCTCAGTTC
3' ss Score
6.39
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
GATCTGATCGGGACCCCACGCTAGCCACCCCTCCGGCCGGCCAGACTCTCGCAGTGCCCTCCCTGCCACGGGCCACTGAGCCGGGGACAGGGCCTCTGACAACAGCCGTCACCCCTAACGGGGTCAGGGGGGCAGGCCCCACTGCGCCAGAACTGCTGACCCCGCCCCCAGGAACCACAGCCCCACCCCCACCCAGCCCTGCCTCCCCAGGGCCTCCCCTTGGGCCTGAGGGAGGAGAGGAGGAGACGACGACCACCATCATCACCACGACAACTGTTACCACTACGGTGACCAGCCCAG
Seq A exon
TTCTGTGTAATAACAACATCTCCGAGGGCGAAGGGTATGTGGAGTCTCCAGATCTGGGGAGCCCCGTCAGCCGCACCCTGGGGCTCCTGGACTGCACTTACAGCATCCATGTCTACCCTGGCTACGGCATTGAGATCCAG
Seq C2 exon
GTGCAGACGCTGAACCTGTCACAGGAAGAGGAGCTCCTGGTGCTGGCTGGTGGGGGATCCCCAGGCCTGGCCCCCCGACTCCTGGCCAACTCATCCATGCTTGGAGAAGGACAAGTCCTTCGGAGCCCAACCAACCGGCTGCTTCTGCACTTCCAGAGCCCACGGGTCCCAAGGGGCGGTGGCTTCAGGATCCACTATCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938-'2-4,'2-3,3-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.958 A=0.340 C2=0.074
Domain overlap (PFAM):
C1:
NO
A:
PF0043115=CUB=PU(39.6=93.6)
C2:
PF0043115=CUB=PD(58.6=95.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCACCATCATCACCACGAC
R:
TAGTGGATCCTGAAGCCACCG
Band lengths:
247-387
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)