Special

HsaEX6079167 @ hg38

Exon Skipping

Gene
ENSG00000101203 | COL20A1
Description
collagen type XX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:14670]
Coordinates
chr20:63313743-63315439:+
Coord C1 exon
chr20:63313743-63313891
Coord A exon
chr20:63314072-63314201
Coord C2 exon
chr20:63315404-63315439
Length
130 bp
Sequences
Splice sites
3' ss Seq
GGCACCCTCCCTTCTCCTAGGTC
3' ss Score
9.13
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCACGGTGAGCAGGAGCCCACCCTCCAACCTGGCCCTGGCCTCGGAGACCCCCGACAGCCTGCAGGTCAGCTGGACGCCCCCGCTTGGCCGCGTGCTCCATTACTGGCTCACCTACGCCCCCGCCTCTGGCTTGGGACCCGAGAAATCC
Seq A exon
GTCTCTGTGCCAGGAGCCAGGAGCCACGTGACACTGCCCGACCTGCAGGCAGCCACGAAGTACAGGGTCCTGGTCTCAGCTATCTATGCAGCAGGCAGGAGTGAGGCTGTGTCTGCCACGGGCCAGACAG
Seq C2 exon
CCTGCCCAGCCCTCCGCCCTGACGGCTCCCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101203-'18-26,'18-23,19-26=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.220 A=0.182 C2=0.154
Domain overlap (PFAM):

C1:
PF0004116=fn3=PU(54.3=88.0)
A:
PF0004116=fn3=PD(43.2=79.5)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
GAGCAGGAGCCCACCCTC
R:
CTGGGAGGGAGCCGTCAG
Band lengths:
178-308
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains