Special

HsaEX0056845 @ hg38

Exon Skipping

Gene
ENSG00000120341 | SEC16B
Description
SEC16 homolog B, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:30301]
Coordinates
chr1:177941900-177946531:-
Coord C1 exon
chr1:177946420-177946531
Coord A exon
chr1:177944561-177944666
Coord C2 exon
chr1:177941900-177942040
Length
106 bp
Sequences
Splice sites
3' ss Seq
TTGTTATTCTCTGGTTTTAGTCA
3' ss Score
7.17
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
CTGGGAAGGGGCTTGTGGAGGCAGCTCACTTCTGCTATCTCATGGCTCACGTGCCCTTTGGCCACTACACCGTGAAGACAGACCATCTGGTCTTGCTGGGCAGCAGCCACAG
Seq A exon
TCAAGAGTTTTTGAAATTTGCAACAACTGAGGCAATCCAGAGGACGGAAATCTTCGAGTACTGTCAGATGCTGGGCCGCCCCAAATCCTTCATCCCTTCTTTCCAG
Seq C2 exon
GTGTATAAGCTCCTTTATGCTTCCCGTCTGGCAGATTATGGCCTCGTGTCCCAGGCTTTGCATTACTGCGAAGCCATTGGTGCAGCTGTCTTGAGCCAGGGAGAGAGCAGTCACCCTGTGCTATTAGTGGAACTCATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120341-'17-23,'17-22,19-23=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(13.6=100)
A:
PF129312=Sec16_C=FE(12.8=100)
C2:
PF129312=Sec16_C=FE(16.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGAAGGGGCTTGTGGAG
R:
TCCACTAATAGCACAGGGTGACT
Band lengths:
243-349
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