Special

HsaEX6046557 @ hg19

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Coordinates
chr6:33144958-33145483:-
Coord C1 exon
chr6:33145439-33145483
Coord A exon
chr6:33145189-33145242
Coord C2 exon
chr6:33144958-33145002
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCCTGGTCACCTGTTTCTAGGGA
3' ss Score
7.12
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGCGTCCGAGGCATGGATGGTCCCCAGGGCCCCAAAGGGAGCTTG
Seq A exon
GGACCCCAGGGAGAGCCAGGACCTCCTGGACAACAGGGCACCCCTGGGACCCAG
Seq C2 exon
GGTCTTCCCGGGCCCCAGGGTGCCATCGGCCCTCATGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'23-24,'23-23,24-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.987 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(16.1=100),PF0139113=Collagen=PU(13.1=73.3)
A:
PF0139113=Collagen=FE(19.5=100),PF0139113=Collagen=FE(20.2=100)
C2:
PF0139113=Collagen=PD(2.3=13.3),PF0139113=Collagen=FE(16.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCGAGGCATGGATGGTCC
R:
CTTCTCTCCATGAGGGCCGAT
Band lengths:
86-140
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains