Special

HsaEX6088757 @ hg38

Exon Skipping

Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69801931-69927110:+
Coord C1 exon
chr10:69801931-69802147
Coord A exon
chr10:69887456-69887491
Coord C2 exon
chr10:69927087-69927110
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCTTGTTTTTTTTTTTTCAGGGT
3' ss Score
11.99
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
TGTGTCAAGTTACAGAGGCGCCGGAATCGGCCCCTGCGCTCCTCGCCAGCCGCCACGACCCACCTCTGCCCATGGGGCCCTCCGTGTGCGCCCCTTCGCCCGGGGACTGAAACTGACTGGCCCGGGAGACACGAGGCGCCCAGAAGGACTGACAGCGCGGCACCAACTGCTCTGCAGACACTTGAAGGGAAAGACTGGGCGGAGAGAAGGAGAGCCG
Seq A exon
GGTCAACCAGGAACTAGAGGTTTCCCTGGATTTCCG
Seq C2 exon
GAGATCCGGACGCTGGCCTTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467_MULTIEX1-9/36=C1-30
Average complexity
C3
Mappability confidence:
88%=91=97%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.469 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
PF0139113=Collagen=FE(18.0=100)
C2:
PF0139113=Collagen=PU(1.6=12.5)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000479733fB12718


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAACTGACTGGCCCGGGAG
R:
AAGGCCAGCGTCCGGATC
Band lengths:
128-164
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains