HsaEX0056840 @ hg38
Exon Skipping
Gene
ENSG00000120341 | SEC16B
Description
SEC16 homolog B, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:30301]
Coordinates
chr1:177958840-177960939:-
Coord C1 exon
chr1:177960791-177960939
Coord A exon
chr1:177960342-177960403
Coord C2 exon
chr1:177958840-177958975
Length
62 bp
Sequences
Splice sites
3' ss Seq
ATCTGATTGTTTTATTCCAGGTT
3' ss Score
8.53
5' ss Seq
TAGGTATAG
5' ss Score
5.16
Exon sequences
Seq C1 exon
ATGTCTCCTCAGCTGGTCCCAAAGCACCCATGAAGTTCTACATCCCTCATGTTCCTGTGAGTTTCGGGCCAGGAGGTCAGCTGGTGCATGTAGGTCCCAGCTCTCCCACTGACGGGCAAGCAGCCCTTGTTGAACTGCACAGCATGGAG
Seq A exon
GTTATTCTTAATGATTCCGAAGAGCAAGAGGAGATGAGAAGTTTCTCAGGACCCTTGATTAG
Seq C2 exon
GGAAGATGTACATAAGGTGGATATTATGACGTTTTGCCAGCAGAAAGCAGCTCAGAGCTGCAAATCTGAGACACTGGGGAGCAGAGACTCAGCTCTACTGTGGCAGCTCTTGGTTCTCCTTTGTCGCCAGAATGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120341-'9-13,'9-12,10-13=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.521 A=0.500 C2=0.010
Domain overlap (PFAM):
C1:
PF129322=Sec16=PU(33.3=68.0)
A:
PF129322=Sec16=FE(19.6=100)
C2:
PF129322=Sec16=FE(44.1=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTTGAACTGCACAGCATGGA
R:
CAAGAGCTGCCACAGTAGAGC
Band lengths:
134-196
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