Special

HsaEX0016266 @ hg38

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33175574-33176303:-
Coord C1 exon
chr6:33176259-33176303
Coord A exon
chr6:33176016-33176069
Coord C2 exon
chr6:33175574-33175681
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCACCTCTATCTTTCTCAGGGT
3' ss Score
10.24
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
GGTGTGGACGGAATTCGGGGTCTGAAGGGTCATAAGGGTGAGAAG
Seq A exon
GGTGAGGATGGCTTTCCTGGGTTCAAAGGTGACATAGGCGTGAAAGGTGACAGG
Seq C2 exon
GGCGAAGTTGGAGTCCCTGGTTCCAGGGGAGAGGATGGTCCTGAGGGGCCAAAGGGACGCACTGGACCGACTGGAGACCCTGGGCCCCCAGGGCTCATGGGCGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX2-4/37=3-5
Average complexity
S*
Mappability confidence:
NA
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=FE(21.9=100)
A:
PF0139113=Collagen=FE(26.6=100)
C2:
PF0139113=Collagen=PD(7.1=16.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCGGGGTCTGAAGGGTCAT
R:
CTTCTCGCCCATGAGCCCT
Band lengths:
141-195
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development