HsaEX0056831 @ hg38
Exon Skipping
Gene
ENSG00000148396 | SEC16A
Description
SEC16 homolog A, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:29006]
Coordinates
chr9:136463340-136463740:-
Coord C1 exon
chr9:136463679-136463740
Coord A exon
chr9:136463586-136463601
Coord C2 exon
chr9:136463340-136463440
Length
16 bp
Sequences
Splice sites
3' ss Seq
ACTGTGTGTTCTTTCTGCAGAGA
3' ss Score
11.39
5' ss Seq
AAGGTGGAT
5' ss Score
3.2
Exon sequences
Seq C1 exon
GCCTTGCTGCAGCACACGTCTGAGCAGGAGGAGATGCGGGCGTTCCCGGGACCCCTGGCCAA
Seq A exon
AGACGACACCCATAAG
Seq C2 exon
AGTGTTTCTTCTTGCTGGTCTTCATTTCGTCTTGGGAATGCTCAGCCTCCCGAAGGAGCAGGGCGGGATCCGCGTGGCCAGCTATGGGAGCCTCGAGGGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148396-'25-27,'25-26,26-27
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.667 A=0.000 C2=NA
Domain overlap (PFAM):
C1:
PF129322=Sec16=FE(19.4=100)
A:
PF129322=Sec16=FE(44.7=100)
C2:
NA
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:
ACGTCTGAGCAGGAGGAGATG
R:
CTTCGGGAGGCTGAGCATTC
Band lengths:
102-118
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development