Special

HsaEX0056842 @ hg38

Exon Skipping

Gene
ENSG00000120341 | SEC16B
Description
SEC16 homolog B, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:30301]
Coordinates
chr1:177958132-177960403:-
Coord C1 exon
chr1:177960342-177960403
Coord A exon
chr1:177958840-177958975
Coord C2 exon
chr1:177958132-177958362
Length
136 bp
Sequences
Splice sites
3' ss Seq
CCTAAATTTTTTCCATGTAGGGA
3' ss Score
7.46
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GTTATTCTTAATGATTCCGAAGAGCAAGAGGAGATGAGAAGTTTCTCAGGACCCTTGATTAG
Seq A exon
GGAAGATGTACATAAGGTGGATATTATGACGTTTTGCCAGCAGAAAGCAGCTCAGAGCTGCAAATCTGAGACACTGGGGAGCAGAGACTCAGCTCTACTGTGGCAGCTCTTGGTTCTCCTTTGTCGCCAGAATGGG
Seq C2 exon
TCCATGGTGGGGTCTGACATCGCTGAGCTGCTAATGCAAGACTGCAAGAAGCTGGAGAAGTACAAGCGGCAGCCCCCTGTGGCCAACCTCATCAACCTGACCGATGAGGACTGGCCAGTGCTGAGCTCTGGGACCCCGAACCTGCTCACGGGAGAGATCCCCCCCAGTGTGGAGACACCTGCGCAGATCGTGGAGAAATTCACTAGGCTGCTCTACTATGGAAGGAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120341-'10-16,'10-13,11-16=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.500 A=0.010 C2=0.013
Domain overlap (PFAM):

C1:
PF129322=Sec16=FE(19.6=100)
A:
PF129322=Sec16=FE(44.1=100)
C2:
PF129322=Sec16=PD(0.1=0.0),PF129312=Sec16_C=PU(4.0=14.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCGAAGAGCAAGAGGAGATGA
R:
ATTTCTCCACGATCTGCGCAG
Band lengths:
246-382
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development