Special

HsaEX0057561 @ hg19

Exon Skipping

Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29883730-29884752:-
Coord C1 exon
chr16:29884561-29884752
Coord A exon
chr16:29884026-29884064
Coord C2 exon
chr16:29883730-29883847
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_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.021 A=0.143 C2=0.125
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=89.2)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
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