HsaEX0056844 @ hg38
Exon Skipping
Gene
ENSG00000120341 | SEC16B
Description
SEC16 homolog B, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:30301]
Coordinates
chr1:177947825-177954376:-
Coord C1 exon
chr1:177954279-177954376
Coord A exon
chr1:177951914-177951995
Coord C2 exon
chr1:177947825-177947942
Length
82 bp
Sequences
Splice sites
3' ss Seq
GACTATCCTTCTCTCCGCAGCTT
3' ss Score
11.11
5' ss Seq
ACGGTACCC
5' ss Score
6.32
Exon sequences
Seq C1 exon
GAAGCCTTGGAGTGGGCCATGAAGAACCACTTGTGGGGCCATGCTTTGTTCCTGTCCAGCAAGATGGACCCACAGACCTACAGCTGGGTCATGAGTGG
Seq A exon
CTTCACCAGCACGCTGGCGCTCAATGACCCACTGCAGACCCTCTTCCAGCTCATGTCGGGGAGGATTCCACAGGCAGCCACG
Seq C2 exon
TGTTGTGGAGAAAAGCAGTGGGGAGACTGGAGGCCTCACTTGGCTGTGATTCTGTCGAATCAGGCTGGGGACCCAGAGCTGTATCAGCGTGCGATTGTTGCCATTGGGGACACCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120341-'13-20,'13-18,14-20=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF129312=Sec16_C=FE(11.7=100)
A:
PF129312=Sec16_C=FE(16.9=100)
C2:
PF129312=Sec16_C=FE(14.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGAAGAACCACTTGTGGGGC
R:
GCAACAATCGCACGCTGATAC
Band lengths:
181-263
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