Special

HsaEX0016350 @ hg38

Exon Skipping

Gene
ENSG00000084636 | COL16A1
Description
collagen type XVI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2193]
Coordinates
chr1:31697906-31699930:-
Coord C1 exon
chr1:31699813-31699930
Coord A exon
chr1:31698483-31698606
Coord C2 exon
chr1:31697906-31698172
Length
124 bp
Sequences
Splice sites
3' ss Seq
CCTCCCTGCTCCATCTCCAGAAG
3' ss Score
9.49
5' ss Seq
CAGGTGAAC
5' ss Score
5.56
Exon sequences
Seq C1 exon
GCTTCAACCTCATCCACCGACTCAGCCTCATGAAGACGTCTGCCATCAAGAAGATCCGCAACCCCAAGGGGCCTCTCATCCTGCGCCTGGGGGCGGCCCCCGTGACCCAGCCCACGCG
Seq A exon
AAGAGTATTCCCTCGGGGTCTCCCGGAGGAGTTTGCCCTGGTGCTGACACTACTGCTGAAGAAACACACCCACCAGAAGACGTGGTATCTGTTTCAAGTGACCGATGCAAATGGGTATCCACAG
Seq C2 exon
ATATCCCTGGAAGTCAACAGCCAAGAGCGGAGCCTGGAGCTCAGGGCCCAGGGCCAGGATGGCGACTTTGTGTCCTGCATCTTCCCAGTGCCCCAGCTCTTCGACTTGCGTTGGCACAAGCTGATGCTGAGTGTGGCTGGACGTGTGGCCTCTGTGCACGTGGACTGCAGCTCAGCCTCCTCCCAGCCTCTGGGGCCCCGACGACCCATGAGGCCTGTGGGCCATGTATTTCTAGGCTTGGATGCTGAGCAGGGCAAGCCTGTCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084636_MULTIEX4-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.079
Domain overlap (PFAM):

C1:
NO
A:
PF0221019=Laminin_G_2=PU(17.4=45.2)
C2:
PF0221019=Laminin_G_2=PD(80.6=97.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCGACTCAGCCTCATGAAGA
R:
GTCCAGCCACACTCAGCATC
Band lengths:
245-369
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