Special

HsaEX6043105 @ hg19

Exon Skipping

Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29899861-29907181:-
Coord C1 exon
chr16:29907042-29907181
Coord A exon
chr16:29906580-29906781
Coord C2 exon
chr16:29899861-29900046
Length
202 bp
Sequences
Splice sites
3' ss Seq
TCTGTGTCTGGCTTCTCTAGGTG
3' ss Score
11.69
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
TTCTGTGTAATAACAACATCTCCGAGGGCGAAGGGTATGTGGAGTCTCCAGATCTGGGGAGCCCCGTCAGCCGCACCCTGGGGCTCCTGGACTGCACTTACAGCATCCATGTCTACCCTGGCTACGGCATTGAGATCCAG
Seq A exon
GTGCAGACGCTGAACCTGTCACAGGAAGAGGAGCTCCTGGTGCTGGCTGGTGGGGGATCCCCAGGCCTGGCCCCCCGACTCCTGGCCAACTCATCCATGCTTGGAGAAGGACAAGTCCTTCGGAGCCCAACCAACCGGCTGCTTCTGCACTTCCAGAGCCCACGGGTCCCAAGGGGCGGTGGCTTCAGGATCCACTATCAGG
Seq C2 exon
CCTACCTCCTGAGCTGTGGCTTCCCTCCCCGGCCGGCCCATGGGGACGTGAGTGTGACGGACCTGCACCCTGGGGGCACTGCCACCTTTCACTGTGATTCGGGCTACCAGCTGCAGGGAGAGGAGACCCTCATCTGCCTCAATGGCACCCGGCCATCCTGGAACGGTGAAACCCCCAGCTGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938-'3-5,'3-4,4-5=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.340 A=0.074 C2=0.275
Domain overlap (PFAM):

C1:
PF0043115=CUB=PU(39.6=93.6)
A:
PF0043115=CUB=PD(58.6=95.6)
C2:
PF0008415=Sushi=WD(100=88.9)


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:
TAACAACATCTCCGAGGGCGA
R:
GGTTTCACCGTTCCAGGATGG
Band lengths:
303-505
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains