Special

HsaEX0056831 @ hg19

Exon Skipping

Gene
ENSG00000148396 | SEC16A
Description
SEC16 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:29006]
Coordinates
chr9:139355629-139359014:-
Coord C1 exon
chr9:139358872-139359014
Coord A exon
chr9:139357915-139358053
Coord C2 exon
chr9:139355629-139355726
Length
139 bp
Sequences
Splice sites
3' ss Seq
ACTGTGTGTTCTTTCTGCAGAGA
3' ss Score
11.39
5' ss Seq
GGGGTATGT
5' ss Score
7.48
Exon sequences
Seq C1 exon
TTTCATCAAGACCAACTTCTCCTGAAAAATTTTCAGTGCCTCATGTCTGTGCCAGGTTTGGCCCTGGCGGTCAGCTTATCAAAGTGATTCCCAATCTGCCTTCAGAAGGACAGCCGGCCTTGGTGGAGGTCCACAGCATGGAG
Seq A exon
AGACGACACCCATAAGGTGGATGTCATTAATTTTGCACAGAACAAAGCTATGAAATGTTTGCAGAATGAAAACTTAATTGACAAAGAGTCTGCAAGTCTTCTTTGGAATTTTATTGTTCTCTTATGCAGACAAAATGGG
Seq C2 exon
GATGCTTTGGAGTCTGCAATGAAGAATGGCCTGTGGGGTCACGCTCTGCTACTTGCAAGTAAGATGGACAGCCGGACACACGCCCGAGTCATGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148396_MULTIEX2-2/3=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF129322=Sec16=PU(33.0=70.8)
A:
PF129322=Sec16=FE(44.7=100)
C2:
PF129312=Sec16_C=FE(12.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCAAGACCAACTTCTCCTGA
R:
CATGACTCGGGCGTGTGTC
Band lengths:
234-373
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