Special

HsaEX6046556 @ hg19

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Coordinates
chr6:33145189-33145962:-
Coord C1 exon
chr6:33145909-33145962
Coord A exon
chr6:33145439-33145483
Coord C2 exon
chr6:33145189-33145242
Length
45 bp
Sequences
Splice sites
3' ss Seq
ACACCCATCTTGTGTTTCAGGGC
3' ss Score
10.82
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
GGACCTCGAGGTCTCCTTGGCCCCAAAGGCCCACCTGGTATTCCTGGACCCCCT
Seq A exon
GGCGTCCGAGGCATGGATGGTCCCCAGGGCCCCAAAGGGAGCTTG
Seq C2 exon
GGACCCCAGGGAGAGCCAGGACCTCCTGGACAACAGGGCACCCCTGGGACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'21-23,'21-22,23-23=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=0.987 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(20.0=100)
A:
PF0139113=Collagen=FE(16.1=100),PF0139113=Collagen=PU(13.1=73.3)
C2:
PF0139113=Collagen=FE(19.5=100),PF0139113=Collagen=FE(20.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGAGGTCTCCTTGGCCC
R:
GGGTGCCCTGTTGTCCAG
Band lengths:
93-138
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains