Special

HsaEX0056824 @ hg38

Exon Skipping

Gene
ENSG00000148396 | SEC16A
Description
SEC16 homolog A, endoplasmic reticulum export factor [Source:HGNC Symbol;Acc:HGNC:29006]
Coordinates
chr9:136440096-136446949:-
Coord C1 exon
chr9:136446855-136446949
Coord A exon
chr9:136443823-136443900
Coord C2 exon
chr9:136440096-136441823
Length
78 bp
Sequences
Splice sites
3' ss Seq
GACTTCTCTGTGCTTCTCAGGCT
3' ss Score
7.74
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
ATGCAGAAGAACCACAGCTTCCAGACGGGACTGGCAGGGAAGGGCCTGCAGCAGCTAGGGGCCTGGCCAATCCAGAGCCTGCCCCAGAGCCCAAG
Seq A exon
GCTCCTGGCGACCTCCCTGCTGCAGGGGGCCCTCCCAGCGGGGCCATGCCCTTCTACAACCCTGCTCAGCTGGCACAG
Seq C2 exon
GCCTGCGCCACCTCCGGGAGCTCAAGGCTAGGGAGGATTGGCCAGAGGAAGCACCTGGTGCTGAACTAGGCTTGCCCTGCTGTGAACTTGCACTTGGAGCCCTGACGCTGCTGTTCTCCCCGAAGAACCCGACCGACCTCCGCGATCTCCGTCCCGCCCCCAGGGAGACACAGCAGTGACTCAGAGCTGGTCGCACACTGTGCCTCCCTCCTCACCGCCCATCGTAATGAATTATTTTGAAAATTAATTCCACCATCCTTTCAGATTCTGGATGGAAAGACTGAATCTTTGACTCAGAATTGTTTGCCGAAAAGAATGATGTGACTTTCTTAGTCATTTAGGATGATTTAAGGATATAGTATTCCTGGTCATTTAAGAATGTTCATTCATTGAAGCCGGAGCTGTCTCTGCCACAGGAGAGCCACATGGTCGGTAGTAACCAGGGCCTCTCCAAGCCCAGCTGTGAGTCACTGCCCAGTGAGTCCCGCGCTTCCTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148396-'59-78,'59-75,63-78
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.990 C2=0.926
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAAGAACCACAGCTTCCA
R:
CAAGCCTAGTTCAGCACCAGG
Band lengths:
167-245
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