Special

HsaEX6046574 @ hg19

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Coordinates
chr6:33133326-33133983:-
Coord C1 exon
chr6:33133948-33133983
Coord A exon
chr6:33133708-33133761
Coord C2 exon
chr6:33133326-33133593
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCTGATTTATTCCTTGTCAGGGC
3' ss Score
6.65
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACA
Seq A exon
GGCCCAGGCGGACCCAAGGGAGAGAAGGGTGTGCAGGGCCCTCCAGGACACCCG
Seq C2 exon
GGTCCCCCAGGCGAGGTGATCCAGCCACTGCCCATTCAGATGCCCAAGAAGACTCGGCGCTCGGTGGATGGAAGCCGTCTGATGCAGGAAGATGAGGCCATACCGACCGGGGGAGCCCCCGGCAGTCCTGGGGGGCTGGAGGAGATCTTTGGCTCACTCGACTCCCTGCGGGAGGAGATCGAGCAGATGAGGCGGCCAACAGGGACCCAGGACAGCCCTGCTCGCACCTGCCAGGACCTGAAGCTGTGCCACCCAGAGCTTCCCGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248-'65-64,'65-63,66-64=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=0.927
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(17.5=100)
A:
PF0139113=Collagen=FE(27.0=100)
C2:
PF0139113=Collagen=PD(12.7=8.9),PF0141013=COLFI=PU(41.5=30.0)


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:
CCCAAAGGAGCCAAAGGAGC
R:
GGTCGGTATGGCCTCATCTTC
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains