HsaEX6043105 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29888540-29896911:-
Coord C1 exon
chr16:29896822-29896911
Coord A exon
chr16:29895259-29895460
Coord C2 exon
chr16:29888540-29888725
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
GGCCTCCCCTTGGGCCTGAGGGAGGAGAGGAGGAGACGACGACCACCATCATCACCACGACAACTGTTACCACTACGGTGACCAGCCCAG
Seq A exon
GTGCAGACGCTGAACCTGTCACAGGAAGAGGAGCTCCTGGTGCTGGCTGGTGGGGGATCCCCAGGCCTGGCCCCCCGACTCCTGGCCAACTCATCCATGCTTGGAGAAGGACAAGTCCTTCGGAGCCCAACCAACCGGCTGCTTCTGCACTTCCAGAGCCCACGGGTCCCAAGGGGCGGTGGCTTCAGGATCCACTATCAGG
Seq C2 exon
CCTACCTCCTGAGCTGTGGCTTCCCTCCCCGGCCGGCCCATGGGGACGTGAGTGTGACGGACCTGCACCCTGGGGGCACTGCCACCTTTCACTGTGATTCGGGCTACCAGCTGCAGGGAGAGGAGACCCTCATCTGCCTCAATGGCACCCGGCCATCCTGGAACGGTGAAACCCCCAGCTGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938_MULTIEX1-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.924 A=0.079 C2=0.206
Domain overlap (PFAM):
C1:
NO
A:
PF0043115=CUB=PD(58.6=95.6)
C2:
PF0008415=Sushi=WD(100=88.9)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGGGCCTGAGGGAGGAG
R:
CCATGCAGCTGGGGGTTTC
Band lengths:
268-470
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains