Special

HsaEX0016267 @ hg19

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Coordinates
chr6:33137160-33142357:-
Coord C1 exon
chr6:33142304-33142357
Coord A exon
chr6:33141942-33141995
Coord C2 exon
chr6:33137160-33137267
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCCTTCTCCGTTCTCACCAGGGG
3' ss Score
10.73
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
Exon sequences
Seq C1 exon
GGCAAGCTGGGTGTTCCTGGTCTGCCTGGCTATCCTGGACGTCAGGGACCCAAG
Seq A exon
GGGTCCCTAGGATTTCCTGGCTTTCCTGGTGCCAGTGGAGAGAAGGGAGCCCGG
Seq C2 exon
GGTCCACGCGGGGAACGTGGAGAGAAAGGAGAGTCGGGGCAGCCAGGAGAGCCAGGGCCACCAGGGCCTAAAGGCCCCACAGGCGATGATGGCCCCAAAGGGAACCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX1-7/37=6-26
Average complexity
C2
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=PU(13.3=77.8)
A:
PF0139113=Collagen=FE(16.2=100)
C2:
PF0139113=Collagen=PD(5.2=13.9),PF0139113=Collagen=FE(42.2=100)


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:
CTGGTCTGCCTGGCTATCCT
R:
CTTTGGGGCCATCATCGCC
Band lengths:
138-192
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