HsaEX0016301 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69875128-69887491:+
Coord C1 exon
chr10:69875128-69875163
Coord A exon
chr10:69880503-69880553
Coord C2 exon
chr10:69887456-69887491
Length
51 bp
Sequences
Splice sites
3' ss Seq
CCCTTCCTCTCTCCCCGCAGGGG
3' ss Score
14.96
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGGGACAAAGGTGCCATTGGGATGCCTGGACGTGTG
Seq A exon
GGGTCCCCCGGAGACGCTGGGCTGTCCATCATTGGTCCCCGCGGCCCCCCT
Seq C2 exon
GGTCAACCAGGAACTAGAGGTTTCCCTGGATTTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'7-16,'7-15,11-16
Average complexity
C2
Mappability confidence:
91%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.933 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(23.9=100)
A:
PF0139113=Collagen=PD(17.4=47.1),PF0139113=Collagen=PU(9.8=35.3)
C2:
PF0139113=Collagen=FE(18.0=100)
Main Skipping Isoform:
ENST00000479733fB12718
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:
GGACAAAGGTGCCATTGGGAT
R:
ACCTCTAGTTCCTGGTTGACC
Band lengths:
55-106
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