HsaEX0016311 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69932560-69936782:+
Coord C1 exon
chr10:69932560-69932604
Coord A exon
chr10:69935350-69935391
Coord C2 exon
chr10:69936756-69936782
Length
42 bp
Sequences
Splice sites
3' ss Seq
GGCTCCCCTTTGGCTTTTAGGTT
3' ss Score
9.1
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
GGAGAGAAAGGAGAAGCCGGGGAGAAGGGCAATCCAGGAGCAGAG
Seq A exon
GTTCCTGGGCTGCCAGGGCCAGAGGGGCCTCCCGGACCTCCG
Seq C2 exon
GGGCTCCAAGGTGTTCCTGGACCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'47-54,'47-53,49-54
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=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(23.3=100),PF0139113=Collagen=PU(0.1=0.0)
A:
PF0139113=Collagen=PD(1.6=7.1),PF0139113=Collagen=PU(21.7=92.9)
C2:
PF0139113=Collagen=PD(14.3=80.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAGAAAGGAGAAGCCGGGG
R:
TTGGTCCAGGAACACCTTGGA
Band lengths:
69-111
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