Special

HsaEX6032435 @ hg38

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102970219-102978752:-
Coord C1 exon
chr1:102978708-102978752
Coord A exon
chr1:102974830-102974883
Coord C2 exon
chr1:102970219-102970272
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCACTGCTTTTTATTTCCAGGGT
3' ss Score
9.37
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGCACTTCAGGTGGCGATGGCCCTCCTGGCCCTCCAGGTGAAAGA
Seq A exon
GGTCCTCAAGGACCTCAGGGTCCAGTTGGATTCCCTGGACCAAAAGGCCCTCCT
Seq C2 exon
GGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'52-57,'52-55,53-57=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0139113=Collagen=PU(12.5=53.3)
A:
PF0139113=Collagen=FE(25.4=100)
C2:
PF0139113=Collagen=FE(22.1=100),PF0139113=Collagen=PU(13.9=61.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
CACTTCAGGTGGCGATGGC
R:
TCTCCCCACGTTGCCCAG
Band lengths:
95-149
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains