HsaEX0057556 @ hg38
Exon Skipping
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29896822-29899064:-
Coord C1 exon
chr16:29898941-29899064
Coord A exon
chr16:29897853-29897984
Coord C2 exon
chr16:29896822-29896911
Length
132 bp
Sequences
Splice sites
3' ss Seq
CACACAACTTCACCTCCTAGGTC
3' ss Score
7.66
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GATTACTTAGAGAGGCACAGAGGAGAGAGATCGGGGTGAGTCGCCATGGGGACTCCCAGGGCCCAGCACCCGCCGCCTCCCCAGCTGCTGTTCCTAATTCTGCTGAGCTGTCCCTGGATCCAGG
Seq A exon
GTCTGCCCCTGAAGGAGGAGGAGATATTGCCAGAGCCTGGAAGTGAGACCCCCACGGTGGCCTCTGAGGCCCTGGCTGAACTGCTTCATGGGGCCCTGCTGAGGAGGGGCCCAGAGATGGGCTACCTGCCAG
Seq C2 exon
GGCCTCCCCTTGGGCCTGAGGGAGGAGAGGAGGAGACGACGACCACCATCATCACCACGACAACTGTTACCACTACGGTGACCAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938-'0-6,'0-0,4-6
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.457 A=0.782 C2=0.924
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTAGAGAGGCACAGAGGAGA
R:
CTGGGCTGGTCACCGTAGT
Band lengths:
210-342
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development