Special

HsaEX6043109 @ hg19

Exon Skipping

Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29888592-29891385:-
Coord C1 exon
chr16:29891185-29891385
Coord A exon
chr16:29889608-29889746
Coord C2 exon
chr16:29888592-29888788
Length
139 bp
Sequences
Splice sites
3' ss Seq
TGACACCCCTTTTTCCCTAGCCA
3' ss Score
7.16
5' ss Seq
GATGTATGT
5' ss Score
6.31
Exon sequences
Seq C1 exon
CCTTTGAGGAGGATCGCTGCTTCGCCCCCTTCCTGGCACATGGAAATGTCACTACCACGGACCCTGAGTATCGCCCAGGGGCACTGGCAACCTTCTCGTGCCTCCCAGGATATGCCCTGGAGCCCCCTGGGCCCCCCAATGCCATCGAATGTGTGGATCCCACAGAACCCCACTGGAACGACACAGAGCCGGCCTGCAAAG
Seq A exon
CCATGTGTGGAGGGGAGCTGTCGGAACCAGCTGGCGTGGTCCTCTCTCCCGACTGGCCCCAGAGCTATAGCCCGGGCCAAGACTGCGTGTGGGGCGTGCACGTCCAGGAAGAGAAGCGCATCTTGCTCCAAGTTGAGAT
Seq C2 exon
ATTGAATGTGCGGGAAGGGGACATGCTGACGCTGTTCGACGGGGACGGTCCCAGCGCCCGAGTCTTGGCCCAGCTGCGGGGACCTCAGCCGCGCCGCCGCCTTCTCTCCTCTGGGCCCGACCTCACACTGCAGTTTCAGGCACCGCCCGGGCCCCCAAATCCAGGCCTGGGCCAGGGCTTCGTATTGCACTTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938-'8-10,'8-9,9-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.294 A=0.106 C2=0.507
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=88.2)
A:
PF0043115=CUB=PU(40.4=93.6)
C2:
PF0043115=CUB=PD(58.7=95.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTCGTGCCTCCCAGGATA
R:
TGCCTGAAACTGCAGTGTGAG
Band lengths:
252-391
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains