Special

HsaEX0056832 @ hg38

Exon Skipping

Gene
ENSG00000148396 | SEC16A
Description
SEC16 homolog A, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:29006]
Coordinates
chr9:136461177-136464562:-
Coord C1 exon
chr9:136464420-136464562
Coord A exon
chr9:136462887-136463132
Coord C2 exon
chr9:136461177-136461274
Length
246 bp
Sequences
Splice sites
3' ss Seq
GTTCCTGTTGACCCAAACAGACC
3' ss Score
5.58
5' ss Seq
AAGGTGCGC
5' ss Score
9.05
Exon sequences
Seq C1 exon
TTTCATCAAGACCAACTTCTCCTGAAAAATTTTCAGTGCCTCATGTCTGTGCCAGGTTTGGCCCTGGCGGTCAGCTTATCAAAGTGATTCCCAATCTGCCTTCAGAAGGACAGCCGGCCTTGGTGGAGGTCCACAGCATGGAG
Seq A exon
ACCGTGGTAGGGACCGACATTGCGGAGCTTCTGTTACGAGACCACAGAACAGTGTGGCTTCCTGGGAAGTCGCCCAATGAAGCAAACCTGATTGATTTCACGAATGAGGCAGTGGAGCAGGTGGAAGAGGAGGAGTCTGGTGAGGCCCAGCTCTCTTTCCTCACTGGTGGTCCGGCGGCTGCCGCCAGCTCGCTCGAGAGAGAGACCGAGAGGTTCAGGGAGCTGTTGCTGTATGGCCGTAAGAAG
Seq C2 exon
GATGCTTTGGAGTCTGCAATGAAGAATGGCCTGTGGGGTCACGCTCTGCTACTTGCAAGTAAGATGGACAGCCGGACACACGCCCGAGTCATGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148396_MULTIEX3-3/3=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.188 A=0.172 C2=0.000
Domain overlap (PFAM):

C1:
PF129322=Sec16=PU(33.0=70.8)
A:
PF129322=Sec16=PD(0.1=0.0),PF129312=Sec16_C=PU(4.2=13.4)
C2:
PF129312=Sec16_C=FE(12.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCAAGACCAACTTCTCCTGA
R:
GTCATGACTCGGGCGTGTG
Band lengths:
236-482
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