Special

HsaEX6046573 @ hg19

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Coordinates
chr6:33133708-33134343:-
Coord C1 exon
chr6:33134290-33134343
Coord A exon
chr6:33133948-33133983
Coord C2 exon
chr6:33133708-33133761
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCTTGTTCCTCATTTCACAGGGA
3' ss Score
9.98
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GGTATCCCAGGAGCATCCGGCCCCATTGGTCCTGGAGGTCCCCCCGGCCTCCCC
Seq A exon
GGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACA
Seq C2 exon
GGCCCAGGCGGACCCAAGGGAGAGAAGGGTGTGCAGGGCCCTCCAGGACACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'64-63,'64-62,65-63=AN
Average complexity
A_S
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(15.8=66.7),PF0139113=Collagen=FE(28.3=100)
A:
PF0139113=Collagen=FE(17.5=100)
C2:
PF0139113=Collagen=FE(27.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
GGTATCCCAGGAGCATCCGG
R:
GTGTCCTGGAGGGCCCTG
Band lengths:
105-141
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains