HsaEX0056826 @ hg38
Exon Skipping
Gene
ENSG00000148396 | SEC16A
Description
SEC16 homolog A, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:29006]
Coordinates
chr9:136464420-136466462:-
Coord C1 exon
chr9:136466264-136466462
Coord A exon
chr9:136465962-136466136
Coord C2 exon
chr9:136464420-136464562
Length
175 bp
Sequences
Splice sites
3' ss Seq
CGTTTGCTTTGTTTTCTAAGAGT
3' ss Score
6.04
5' ss Seq
AAGGTGTGT
5' ss Score
6.64
Exon sequences
Seq C1 exon
GCCCGAGAAACGTGACAACAACTGGAGGTACGATCCTCGCTTCACGGGGAGTTTTGACGATGACCCCGATCCGCACAGAGACCCTTATGGGGAAGAGGTGGACCGGCGCAGCGTCCACAGCGAGCACTCGGCACGGAGCCTGCACAGCGCACACAGCCTGGCCAGCCGCCGCAGCAGCCTCAGCTCCCACTCGCACCAG
Seq A exon
AGTCAGATTTACAGAAGCCACAATGTGGCTGCCGGTTCCTACGAGGCCCCGCTTCCTCCAGGCTCCTTTCACGGCGATTTTGCCTACGGCACCTACCGCAGCAATTTCAGCAGTGGCCCCGGCTTCCCAGAGTATGGCTACCCTGCCGACACCGTCTGGCCTGCCATGGAGCAAG
Seq C2 exon
TTTCATCAAGACCAACTTCTCCTGAAAAATTTTCAGTGCCTCATGTCTGTGCCAGGTTTGGCCCTGGCGGTCAGCTTATCAAAGTGATTCCCAATCTGCCTTCAGAAGGACAGCCGGCCTTGGTGGAGGTCCACAGCATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148396_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.945 A=0.350 C2=0.188
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF129322=Sec16=PU(33.0=70.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCACGGGGAGTTTTGACGA
R:
TTTGATAAGCTGACCGCCAGG
Band lengths:
243-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development