Special

HsaEX0016312 @ hg38

Exon Skipping

Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69935350-69937715:+
Coord C1 exon
chr10:69935350-69935391
Coord A exon
chr10:69936756-69936782
Coord C2 exon
chr10:69937635-69937715
Length
27 bp
Sequences
Splice sites
3' ss Seq
TTGCTTTATTCCAAATGCAGGGG
3' ss Score
6.39
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GTTCCTGGGCTGCCAGGGCCAGAGGGGCCTCCCGGACCTCCG
Seq A exon
GGGCTCCAAGGTGTTCCTGGACCAAAG
Seq C2 exon
GGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'49-55,'49-54,51-55
Average complexity
C1
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=PD(1.6=7.1),PF0139113=Collagen=PU(21.7=92.9)
A:
PF0139113=Collagen=PD(14.3=80.0)
C2:
PF0139113=Collagen=FE(43.3=100),PF0139113=Collagen=PU(21.2=63.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
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
  • Pre-implantation embryo development