Special

HsaEX6048223 @ hg19

Exon Skipping

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75801039-75804895:-
Coord C1 exon
chr6:75804824-75804895
Coord A exon
chr6:75801206-75801241
Coord C2 exon
chr6:75801039-75801105
Length
36 bp
Sequences
Splice sites
3' ss Seq
ATGTAATTCATATTTTTCAGGGT
3' ss Score
8.54
5' ss Seq
AGGGTATGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GGAAGCCCAGGCTCCCCAGGAGTCACAGGACCAAGTGGGAAGCCAGGAAAACCTGGAGATCATGGCAGACCA
Seq A exon
GGTCCATCTGGGTTGAAAGGAGAAAAAGGTGATAGG
Seq C2 exon
GGAGACATTGCTTCCCAGAACATGATGCGAGCAGTTGCAAGACAAGTCTGTGAACAATTGATAAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'83-85,'83-84,84-85=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(3.3=8.7),PF0139113=Collagen=FE(38.6=100)
A:
PF0139113=Collagen=FE(18.6=100)
C2:
PF0139113=Collagen=PD(10.2=26.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCCAGGAGTCACAGGAC
R:
ACAGACTTGTCTTGCAACTGCT
Band lengths:
112-148
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains