Special

HsaEX0016265 @ hg38

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33167070-33167533:-
Coord C1 exon
chr6:33167426-33167533
Coord A exon
chr6:33167264-33167317
Coord C2 exon
chr6:33167070-33167123
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGGCCCCCTCAAATCTTCAGGGT
3' ss Score
6.74
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GGAGATCCTGGCGCTATAGGTGCCCCGGGGAAGACAGGCCCGGTGGGTCCTGCAGGCCCAGCAGGGAAACCTGGCCCTGATGGTCTGAGGGGGCTCCCAGGCTCAGTG
Seq A exon
GGTCAGCAAGGCCGACCTGGAGCTACAGGCCAGGCTGGGCCCCCAGGTCCTGTG
Seq C2 exon
GGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX2-32/37=31-33
Average complexity
S
Mappability confidence:
79%=100=82%
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:
NO
A:
PF0139113=Collagen=PU(10.5=44.4)
C2:
PF0139113=Collagen=FE(22.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTATAGGTGCCCCGGGGAAG
R:
CTCTCCCTTGGCTCCAGCATC
Band lengths:
146-200
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