HsaEX6029692 @ hg38
Exon Skipping
Gene
ENSG00000084636 | COL16A1
Description
collagen type XVI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2193]
Coordinates
chr1:31684523-31685770:-
Coord C1 exon
chr1:31685639-31685770
Coord A exon
chr1:31684821-31684856
Coord C2 exon
chr1:31684523-31684630
Length
36 bp
Sequences
Splice sites
3' ss Seq
TGGAAATGCTTTCTCCTCAGGGC
3' ss Score
8.32
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGGGAGCCCTGTGAGCCGTGCCCAGCCCTGTCCAACCTTCAGGATGGGGATGTCCGTGTGGTGGCCTTGCCTGGCCCATCCGGAGAGAAGGGGGAACCTGGGCCTCCAGGCTTTGGCTTGCCAGGAAAACAG
Seq A exon
GGCAAGGCTGGAGAGCGTGGACTGAAGGGGCAGAAG
Seq C2 exon
GGTGATGCTGGGAATCCTGGAGACCCTGGAACGCCGGGCACCACAGGGCGGCCAGGACTGTCAGGAGAGCCTGGAGTTCAGGGCCCCGCGGGGCCAAAAGGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084636-'47-52,'47-51,49-52
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.985 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(9.5=13.6),PF0139113=Collagen=PU(46.7=63.6),PF0139113=Collagen=PU(9.7=13.6)
A:
PF0139113=Collagen=FE(18.3=100),PF0139113=Collagen=FE(17.7=100)
C2:
PF0139113=Collagen=PD(30.0=50.0),PF0139113=Collagen=FE(56.5=100)
Main Skipping Isoform:
ENST00000373672fB1730
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTTCAGGATGGGGATGTCC
R:
TCTCCAGGATTCCCAGCATCA
Band lengths:
121-157
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains