Special

HsaEX0016298 @ hg38

Exon Skipping

Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69919062-69921935:+
Coord C1 exon
chr10:69919062-69919088
Coord A exon
chr10:69919665-69919701
Coord C2 exon
chr10:69921882-69921935
Length
37 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTTCTTACCCCAAAGGGA
3' ss Score
8.82
5' ss Seq
CAGGTTTGC
5' ss Score
4.86
Exon sequences
Seq C1 exon
GGTGAGCCAGGGATCCCAGGAACCAAG
Seq A exon
GGAGACCCAGGAGCAGAAGGGAAGCCGGGGCCCCCAG
Seq C2 exon
GGTGAGAAGGGGGCTGAAGGCTCCCCTGGGCTTCCTGGCCTCCTGGGGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'33-38,'33-37,34-38
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0139113=Collagen=FE(11.9=100)
A:
PF0139113=Collagen=FE(14.8=100)
C2:
PF0139113=Collagen=FE(25.4=100)


Main Inclusion Isoform:
ENST00000398978fB1727


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAGCCAGGGATCCCAGG
R:
CTTCTGCCCCAGGAGGCC
Band lengths:
80-117
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