Special

HsaEX6088753 @ 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
chr10:69902748-69902855
Coord C2 exon
chr10:69927087-69927110
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTCGTTTCCATGAACCTCAGGGC
3' ss Score
5.48
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
TGTGTCAAGTTACAGAGGCGCCGGAATCGGCCCCTGCGCTCCTCGCCAGCCGCCACGACCCACCTCTGCCCATGGGGCCCTCCGTGTGCGCCCCTTCGCCCGGGGACTGAAACTGACTGGCCCGGGAGACACGAGGCGCCCAGAAGGACTGACAGCGCGGCACCAACTGCTCTGCAGACACTTGAAGGGAAAGACTGGGCGGAGAGAAGGAGAGCCG
Seq A exon
GGCGAACAGAGCCAGGCCAGCATCCAAGGTCCACCAGGGCCCCCAGGCCCCCCTGGACCAAGTGGACCTCTGGGGCACCCAGGACTGCCAGGGCCTATGGGGCCACCT
Seq C2 exon
GAGATCCGGACGCTGGCCTTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467_MULTIEX1-18/36=C1-30
Average complexity
C3
Mappability confidence:
86%=90=95%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.469 A=0.977 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
PF0139113=Collagen=FE(51.5=100),PF0139113=Collagen=PU(19.6=30.6)
C2:
PF0139113=Collagen=PU(1.6=12.5)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000479733fB12718


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGTCAAGTTACAGAGGCGC
R:
CATCAAGGCCAGCGTCCG
Band lengths:
241-349
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains