HsaEX6048223 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75091323-75095179:-
Coord C1 exon
chr6:75095108-75095179
Coord A exon
chr6:75091490-75091525
Coord C2 exon
chr6:75091323-75091389
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-'100-107,'100-106,101-107=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 Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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