HsaEX0016281 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75137437-75138580:-
Coord C1 exon
chr6:75138448-75138580
Coord A exon
chr6:75138320-75138340
Coord C2 exon
chr6:75137437-75137579
Length
21 bp
Sequences
Splice sites
3' ss Seq
CAAATTCTGTTTTCTTTTAGTGC
3' ss Score
8.59
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
ACCATCTTAAATGGAGATGAAAACACTTTGGTGTTCGAAAACCTGAACCCCAACACCATCTATGAAGTTTCCATTACTGCCATCTATCCTGATGAGTCAGAAAGTGATGACCTGATTGGCAGTGAGCGCACAC
Seq A exon
TGCCTATCTTAACAACACAAG
Seq C2 exon
CTCCCAAAAGTGGCCCACGAAACCTTCAAGTGTACAATGCAACATCTAACAGCCTGACTGTTAAGTGGGATCCTGCTAGTGGTCGTGTGCAGAAATATAGGATCACTTATCAGCCTTCCACAGGGGAAGGCAATGAGCAAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'50-61,'50-60,51-61
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.536 A=1.000 C2=0.589
Domain overlap (PFAM):
C1:
PF0004116=fn3=PD(43.0=75.6)
A:
NO
C2:
PF0004116=fn3=PU(53.7=91.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGACCTGATTGGCAGTGAGC
R:
GACCACTAGCAGGATCCCACT
Band lengths:
111-132
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development