Special

HsaEX6032434 @ hg38

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102974830-102978913:-
Coord C1 exon
chr1:102978860-102978913
Coord A exon
chr1:102978708-102978752
Coord C2 exon
chr1:102974830-102974883
Length
45 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTTTCTTGGTGCCAGGGC
3' ss Score
8.54
5' ss Seq
AGAGTACGT
5' ss Score
6.58
Exon sequences
Seq C1 exon
GGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAG
Seq A exon
GGCACTTCAGGTGGCGATGGCCCTCCTGGCCCTCCAGGTGAAAGA
Seq C2 exon
GGTCCTCAAGGACCTCAGGGTCCAGTTGGATTCCCTGGACCAAAAGGCCCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'51-55,'51-53,52-55=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.911 A=0.912 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(14.9=61.1),PF0139113=Collagen=FE(28.8=100)
A:
PF0139113=Collagen=PU(12.5=53.3)
C2:
PF0139113=Collagen=FE(25.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCCTCGAGGTTCAAGAGGT
R:
GCCTTTTGGTCCAGGGAATCC
Band lengths:
102-147
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains