Special

HsaEX6046566 @ hg19

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Coordinates
chr6:33138587-33139101:-
Coord C1 exon
chr6:33139048-33139101
Coord A exon
chr6:33138891-33138944
Coord C2 exon
chr6:33138587-33138694
Length
54 bp
Sequences
Splice sites
3' ss Seq
GACTCTCTTCTCTTACCCAGGGC
3' ss Score
8.3
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
GGTGAGGTGGGGGACCCCGGACAGAAGGGCACCAAAGGGAACAAGGGTGAACAT
Seq A exon
GGCCCTCCTGGACCCCCTGGACCCATTGGTCCTGTGGGGCAGCCTGGAGCAGCG
Seq C2 exon
GGAGCAGATGGGGAGCCCGGAGCTCGGGGACCCCAGGGACACTTTGGAGCCAAAGGTGATGAAGGAACAAGAGGATTCAATGGGCCCCCAGGACCCATTGGCCTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'48-47,'48-46,49-47=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(0.1=0.0),PF0139113=Collagen=FE(21.0=100),PF0139113=Collagen=PU(6.7=27.8)
A:
PF0139113=Collagen=FE(18.5=100),PF0139113=Collagen=FE(23.6=100)
C2:
PF0139113=Collagen=PD(4.8=11.1),PF0139113=Collagen=FE(46.7=100),PF0139113=Collagen=PU(13.1=30.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCAAAGGGAACAAGGGTGA
R:
CTGTAGGCCAATGGGTCCTGG
Band lengths:
133-187
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains