HsaEX0016315 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69895550-69898762:+
Coord C1 exon
chr10:69895550-69895576
Coord A exon
chr10:69897475-69897531
Coord C2 exon
chr10:69898697-69898762
Length
57 bp
Sequences
Splice sites
3' ss Seq
TCCATCCCCTCCCAAACTAGGAG
3' ss Score
8.78
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
GGTCAGTGTGGAGAGTACCCACACCGG
Seq A exon
GAGTGCCTAAGCAGCATGCCAGCAGCTCTGCGCTCCAGCCAAATAATTGCCCTGAAG
Seq C2 exon
CTGCTGCCTCTCCTCAATTCAGTGCGACTGGCTCCACCCCCGGTCATAAAAAGGCGGACGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'20-28,'20-27,22-28
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.816 C2=0.818
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(8.2=55.6)
A:
PF0139113=Collagen=PU(1.5=5.3)
C2:
PF0139113=Collagen=PU(4.4=13.6)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCAGTGTGGAGAGTACCCA
R:
TGGAACGTCCGCCTTTTTATGA
Band lengths:
92-149
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