Special

HsaEX0057559 @ hg19

Exon Skipping

Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29889608-29897070:-
Coord C1 exon
chr16:29896907-29897070
Coord A exon
chr16:29891185-29891385
Coord C2 exon
chr16:29889608-29889746
Length
201 bp
Sequences
Splice sites
3' ss Seq
TATGACTGACTCCTTCCCAGCCT
3' ss Score
4.14
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GCTGATGGTGCGCTCAGGGGGCAGCCCCCTATCCCCCGTGATCTATGATTCGGACATGGACGATGTCCCCGAGCGGGGTCTCATCAGTGACGCCCAGTCCCTCTACGTGGAGCTGCTGTCAGAGACACCTGCCAATCCCCTGCTGTTAAGCCTTCGATTTGAAG
Seq A exon
CCTTTGAGGAGGATCGCTGCTTCGCCCCCTTCCTGGCACATGGAAATGTCACTACCACGGACCCTGAGTATCGCCCAGGGGCACTGGCAACCTTCTCGTGCCTCCCAGGATATGCCCTGGAGCCCCCTGGGCCCCCCAATGCCATCGAATGTGTGGATCCCACAGAACCCCACTGGAACGACACAGAGCCGGCCTGCAAAG
Seq C2 exon
CCATGTGTGGAGGGGAGCTGTCGGAACCAGCTGGCGTGGTCCTCTCTCCCGACTGGCCCCAGAGCTATAGCCCGGGCCAAGACTGCGTGTGGGGCGTGCACGTCCAGGAAGAGAAGCGCATCTTGCTCCAAGTTGAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.143 A=0.294 C2=0.106
Domain overlap (PFAM):

C1:
PF0043115=CUB=PD(43.3=75.0)
A:
PF0008415=Sushi=WD(100=88.2)
C2:
PF0043115=CUB=PU(40.4=93.6)


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:
GCTGATGGTGCGCTCAGG
R:
TCTCAACTTGGAGCAAGATGC
Band lengths:
302-503
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