HsaEX6048190 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75151867-75152482:-
Coord C1 exon
chr6:75152333-75152482
Coord A exon
chr6:75152131-75152250
Coord C2 exon
chr6:75151867-75152031
Length
120 bp
Sequences
Splice sites
3' ss Seq
TGCCAGTGGTGTCATTTTAGCTC
3' ss Score
4.34
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGATGGAGTGTCTCACCAGAGCTGAGGCAGACATTGTGTTGCTGGTGGATGGATCATGGAGCATCGGCCGGGCAAATTTTAGAACCGTGAGGAGTTTCATTTCTCGTATTGTGGAAGTCTTTGACATTGGCCCCAAAAGAGTACAAATTG
Seq A exon
CTCTTGCTCAGTATAGTGGGGATCCCAGAACAGAGTGGCAGTTAAATGCACACAGAGACAAGAAGAGCTTGTTGCAAGCTGTGGCAAACTTGCCGTACAAAGGAGGCAATACTCTCACAG
Seq C2 exon
GCATGGCTTTGAATTTCATTCGCCAACAGAACTTCAGGACCCAAGCTGGCATGAGACCTCGAGCTCGAAAAATTGGTGTGCTCATTACTGATGGAAAATCACAAGACGATGTTGAAGCACCTTCAAAGAAACTCAAGGATGAGGGAGTGGAGCTGTTTGCTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'33-41,'33-39,34-41=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.053 C2=0.088
Domain overlap (PFAM):
C1:
PF0009223=VWA=PU(23.1=78.4)
A:
PF0009223=VWA=FE(23.1=100)
C2:
PF0009223=VWA=FE(31.8=100)
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:
TCGGCCGGGCAAATTTTAGAA
R:
CAGCTCCACTCCCTCATCCTT
Band lengths:
242-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains