HsaEX6029679 @ hg38
Exon Skipping
Gene
ENSG00000084636 | COL16A1
Description
collagen type XVI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2193]
Coordinates
chr1:31698483-31700115:-
Coord C1 exon
chr1:31700041-31700115
Coord A exon
chr1:31699813-31699930
Coord C2 exon
chr1:31698483-31698606
Length
118 bp
Sequences
Splice sites
3' ss Seq
ACCTGATGTCTCCCCCAAAGGCT
3' ss Score
7.19
5' ss Seq
GCGGTAAAT
5' ss Score
6.76
Exon sequences
Seq C1 exon
GTGCACAATGCCCACCTTCACAGCAGGAAGGACTCAAATTGGAACACAGTAGTAGCCTGCCAGCCAACGTGACTG
Seq A exon
GCTTCAACCTCATCCACCGACTCAGCCTCATGAAGACGTCTGCCATCAAGAAGATCCGCAACCCCAAGGGGCCTCTCATCCTGCGCCTGGGGGCGGCCCCCGTGACCCAGCCCACGCG
Seq C2 exon
AAGAGTATTCCCTCGGGGTCTCCCGGAGGAGTTTGCCCTGGTGCTGACACTACTGCTGAAGAAACACACCCACCAGAAGACGTGGTATCTGTTTCAAGTGACCGATGCAAATGGGTATCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084636-'6-6,'6-3,7-6=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.538 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0221019=Laminin_G_2=PU(17.4=45.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAATGCCCACCTTCACAGC
R:
TGTGGATACCCATTTGCATCGG
Band lengths:
194-312
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains