Special

HsaEX6043111 @ hg19

Exon Skipping

Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29884561-29888271:-
Coord C1 exon
chr16:29888077-29888271
Coord A exon
chr16:29884859-29885050
Coord C2 exon
chr16:29884561-29884752
Length
192 bp
Sequences
Splice sites
3' ss Seq
CCTTGTTCTTCTGCCACCAGTCA
3' ss Score
7.45
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
AGGTCCCGAGGAACGACACGTGCCCCGAGCTGCCACCTCCGGAGTGGGGCTGGAGAACGGCATCCCACGGGGACCTGATCCGGGGCACGGTGCTCACCTACCAGTGCGAGCCTGGCTACGAGCTGCTAGGCTCCGACATTCTCACTTGCCAGTGGGACCTGTCTTGGAGCGCCGCGCCGCCCGCCTGCCAAAAGA
Seq A exon
TCATGACTTGTGCTGACCCTGGCGAGATTGCCAACGGGCACCGCACCGCCTCGGACGCCGGCTTCCCCGTTGGCTCCCACGTCCAGTACCGCTGCCTGCCAGGGTACAGCCTCGAGGGGGCAGCCATGCTCACCTGCTACAGCCGGGACACAGGCACACCCAAGTGGAGCGATAGGGTCCCCAAATGCGCCT
Seq C2 exon
TGAAGTACGAGCCGTGCCTGAACCCGGGGGTTCCCGAGAATGGCTACCAGACGCTGTACAAGCACCACTACCAGGCGGGCGAGTCTCTGCGCTTCTTCTGCTATGAGGGCTTTGAGCTTATCGGCGAGGTCACCATCACCTGTGTGCCCGGCCACCCCTCCCAGTGGACCAGCCAGCCCCCACTCTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938-'11-13,'11-12,12-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.121 A=0.046 C2=0.021
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=84.8)
A:
PF0008415=Sushi=WD(100=92.3)
C2:
PF0008415=Sushi=WD(100=89.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
CCGACATTCTCACTTGCCAGT
R:
CTTTGCAGAGTGGGGGCTG
Band lengths:
255-447
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains