Special

HsaEX0016336 @ hg38

Exon Skipping

Gene
ENSG00000084636 | COL16A1
Description
collagen type XVI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2193]
Coordinates
chr1:31668802-31671659:-
Coord C1 exon
chr1:31671615-31671659
Coord A exon
chr1:31670602-31670646
Coord C2 exon
chr1:31668802-31668855
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTGCCTGTTTCTCCCACCAGGGC
3' ss Score
11.94
5' ss Seq
CCTGTAAGA
5' ss Score
4.07
Exon sequences
Seq C1 exon
GGTCCGCCTGGCATGAGGGGCTCCCCGGGTCCTCCAGGCCCTATC
Seq A exon
GGCCCCCCAGGTTTTCCTGGTGCTGTTGGCTCCCCCGGATTGCCT
Seq C2 exon
GGCCTTCAAGGAGAGCGAGGTCTCACGGGCCTGACTGGAGACAAGGGGGAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084636-'77-84,'77-80,78-84
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0139113=Collagen=FE(20.6=100)
A:
PF0139113=Collagen=FE(20.3=100),PF0139113=Collagen=PU(15.7=73.3)
C2:
PF0139113=Collagen=PD(13.0=50.0),PF0139113=Collagen=FE(24.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCGCCTGGCATGAGGG
R:
CTCCCCCTTGTCTCCAGTCAG
Band lengths:
95-140
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