Special

HsaEX0016309 @ hg38

Exon Skipping

Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69930043-69932604:+
Coord C1 exon
chr10:69930043-69930087
Coord A exon
chr10:69930400-69930552
Coord C2 exon
chr10:69932560-69932604
Length
153 bp
Sequences
Splice sites
3' ss Seq
GTTTTTGGTATTTTCTAAAGGGA
3' ss Score
5.63
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAG
Seq A exon
GGACCTCGCGGTAAACCAGGAGACATGGGCCCTCCTGGTCCCCAAGGCCCCCCAGGAAAGGATGGACCTCCAGGAGTGAAGGGAGAAAACGGGCACCCAGGGAGCCCAGGAGAGAAGGGGGAAAAAGGGGAGACAGGACAAGCAGGCTCACCG
Seq C2 exon
GGAGAGAAAGGAGAAGCCGGGGAGAAGGGCAATCCAGGAGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'44-52,'44-49,45-52
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(22.6=100),PF0139113=Collagen=PU(2.4=13.3)
A:
PF0139113=Collagen=PD(36.7=43.1),PF0139113=Collagen=PU(71.0=86.3)
C2:
PF0139113=Collagen=FE(23.3=100),PF0139113=Collagen=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
Primers PCR
Suggestions for RT-PCR validation
F:
GAGATTGGACTGCCAGGCC
R:
TGCTCCTGGATTGCCCTTCTC
Band lengths:
84-237
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