HsaEX6043111 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29872409-29876950:-
Coord C1 exon
chr16:29876756-29876950
Coord A exon
chr16:29873538-29873729
Coord C2 exon
chr16:29872409-29872526
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
TGACCCAGACCACAGATCCATCACGGCAGCTGGAAGGGGGGAACCTGGCCCTGGCCATCCTGCTGCCTCTAGGCTTGGTCATTGTCCTCGGCAGTGGCGTTTACATCTACTACACCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX2-5/7=4-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.123 A=0.046 C2=0.135
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=84.8)
A:
PF0008415=Sushi=WD(100=92.3)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGAGAACGGCATCCCAC
R:
TAGATGTAAACGCCACTGCCG
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