Special

HsaEX6032459 @ hg38

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102888577-102888919:-
Coord C1 exon
chr1:102888866-102888919
Coord A exon
chr1:102888723-102888758
Coord C2 exon
chr1:102888577-102888630
Length
36 bp
Sequences
Splice sites
3' ss Seq
TTTGCATTTGCATTTTGTAGGGT
3' ss Score
7.38
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
GGAATTCCTGGTCCTGCTGGTCCCTTAGGTCCACCTGGTCCTCCAGGTTTACCA
Seq A exon
GGTCCTCAAGGCCCAAAGGGTAACAAAGGCTCTACT
Seq C2 exon
GGACCCGCTGGCCAGAAAGGTGACAGTGGTCTTCCAGGGCCTCCTGGGTCTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'89-91,'89-90,90-91=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=PD(20.8=88.9),PF0139113=Collagen=FE(27.0=100)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(17.5=100)
C2:
PF0139113=Collagen=FE(27.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAATTCCTGGTCCTGCTGGTC
R:
GGAGACCCAGGAGGCCCT
Band lengths:
106-142
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains