Special

HsaEX0057557 @ hg19

Exon Skipping

Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29884859-29888788:-
Coord C1 exon
chr16:29888592-29888788
Coord A exon
chr16:29888077-29888271
Coord C2 exon
chr16:29884859-29885050
Length
195 bp
Sequences
Splice sites
3' ss Seq
TCGCCTTCCCTCCCCTGCAGAGG
3' ss Score
11.1
5' ss Seq
AGAGTGAGC
5' ss Score
4.22
Exon sequences
Seq C1 exon
ATTGAATGTGCGGGAAGGGGACATGCTGACGCTGTTCGACGGGGACGGTCCCAGCGCCCGAGTCTTGGCCCAGCTGCGGGGACCTCAGCCGCGCCGCCGCCTTCTCTCCTCTGGGCCCGACCTCACACTGCAGTTTCAGGCACCGCCCGGGCCCCCAAATCCAGGCCTGGGCCAGGGCTTCGTATTGCACTTCAAAG
Seq A exon
AGGTCCCGAGGAACGACACGTGCCCCGAGCTGCCACCTCCGGAGTGGGGCTGGAGAACGGCATCCCACGGGGACCTGATCCGGGGCACGGTGCTCACCTACCAGTGCGAGCCTGGCTACGAGCTGCTAGGCTCCGACATTCTCACTTGCCAGTGGGACCTGTCTTGGAGCGCCGCGCCGCCCGCCTGCCAAAAGA
Seq C2 exon
TCATGACTTGTGCTGACCCTGGCGAGATTGCCAACGGGCACCGCACCGCCTCGGACGCCGGCTTCCCCGTTGGCTCCCACGTCCAGTACCGCTGCCTGCCAGGGTACAGCCTCGAGGGGGCAGCCATGCTCACCTGCTACAGCCGGGACACAGGCACACCCAAGTGGAGCGATAGGGTCCCCAAATGCGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938-'10-12,'10-11,11-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.507 A=0.121 C2=0.046
Domain overlap (PFAM):

C1:
PF0043115=CUB=PD(58.7=95.5)
A:
PF0008415=Sushi=WD(100=84.8)
C2:
PF0008415=Sushi=WD(100=92.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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:
CTCACACTGCAGTTTCAGGCA
R:
CTATCGCTCCACTTGGGTGTG
Band lengths:
251-446
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