Special

HsaEX1009288 @ hg38

Exon Skipping

Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33169383-33176069:-
Coord C1 exon
chr6:33176016-33176069
Coord A exon
chr6:33175574-33175681
Coord C2 exon
chr6:33169383-33169490
Length
108 bp
Sequences
Splice sites
3' ss Seq
TGTCCTTCCCTCTCACACAGGGC
3' ss Score
11.36
5' ss Seq
AAGGTGATG
5' ss Score
5.22
Exon sequences
Seq C1 exon
GGTGAGGATGGCTTTCCTGGGTTCAAAGGTGACATAGGCGTGAAAGGTGACAGG
Seq A exon
GGCGAAGTTGGAGTCCCTGGTTCCAGGGGAGAGGATGGTCCTGAGGGGCCAAAGGGACGCACTGGACCGACTGGAGACCCTGGGCCCCCAGGGCTCATGGGCGAGAAG
Seq C2 exon
GGTCCACGCGGGGAACGTGGAGAGAAAGGAGAGTCGGGGCAGCCAGGAGAGCCAGGGCCACCAGGGCCTAAAGGCCCCACAGGCGATGATGGCCCCAAAGGGAACCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248_MULTIEX2-5/37=4-26
Average complexity
C3
Mappability confidence:
90%=100=88%
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(26.6=100)
A:
PF0139113=Collagen=PD(7.1=16.7)
C2:
PF0139113=Collagen=FE(42.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000341947fB12706


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAGGATGGCTTTCCTGGGT
R:
CCTTTGGGGCCATCATCGC
Band lengths:
154-262
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains