Special

HsaEX6032455 @ hg19

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen, type XI, alpha 1 [Source:HGNC Symbol;Acc:2186]
Coordinates
chr1:103356007-103364329:-
Coord C1 exon
chr1:103364222-103364329
Coord A exon
chr1:103363681-103363734
Coord C2 exon
chr1:103356007-103356060
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATCATTTTTATTTTCTCTAGGGA
3' ss Score
9.64
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GGGGAAGCAGGTGCAGAAGGTCCTCCTGGAAAAACCGGCCCAGTCGGTCCTCAGGGACCTGCAGGAAAGCCTGGTCCAGAAGGTCTTCGGGGCATCCCTGGTCCTGTG
Seq A exon
GGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATG
Seq C2 exon
GGACCTCCTGGCTTACCTGGTCTCAAAGGTGACCCTGGCTCCAAGGGTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'64-67,'64-65,65-67=AN
Average complexity
A_S
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=FE(50.7=100),PF0139113=Collagen=PU(42.1=88.9)
A:
PF0139113=Collagen=FE(24.6=100),PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=PU(6.3=27.8)
C2:
PF0139113=Collagen=PD(2.9=11.1),PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=FE(21.5=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:
AAGGTCCTCCTGGAAAAACCG
R:
CTTTTCACCCTTGGAGCCAGG
Band lengths:
146-200
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains