HsaEX6088742 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69930400-69935391:+
Coord C1 exon
chr10:69930400-69930552
Coord A exon
chr10:69931160-69931256
Coord C2 exon
chr10:69935350-69935391
Length
97 bp
Sequences
Splice sites
3' ss Seq
AAATCATTGTCAGTCTGTAGGGT
3' ss Score
0.4
5' ss Seq
ACAGTGAAG
5' ss Score
-5.46
Exon sequences
Seq C1 exon
GGACCTCGCGGTAAACCAGGAGACATGGGCCCTCCTGGTCCCCAAGGCCCCCCAGGAAAGGATGGACCTCCAGGAGTGAAGGGAGAAAACGGGCACCCAGGGAGCCCAGGAGAGAAGGGGGAAAAAGGGGAGACAGGACAAGCAGGCTCACCG
Seq A exon
GGTCTAGATGGCCCAACTGGGGAGAGGAGAACATGGTGGCCAGAGCAGACCCAGAGTGGCAGGATTGCCTAATCCAGCTGGGCTCCTGAGGTTTACA
Seq C2 exon
GTTCCTGGGCTGCCAGGGCCAGAGGGGCCTCCCGGACCTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'45-53,'45-51,46-53=AN
Average complexity
A_C2
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=PD(36.7=43.1),PF0139113=Collagen=PU(71.0=86.3)
A:
PF0139113=Collagen=PD(17.5=41.7)
C2:
PF0139113=Collagen=PD(1.6=7.1),PF0139113=Collagen=PU(21.7=92.9)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains