HsaEX0016277 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75145326-75147804:-
Coord C1 exon
chr6:75147675-75147804
Coord A exon
chr6:75146102-75146244
Coord C2 exon
chr6:75145326-75145455
Length
143 bp
Sequences
Splice sites
3' ss Seq
CTGCTTTTCTGTTTTGGAAGTGC
3' ss Score
3.11
5' ss Seq
GAGGTGAAA
5' ss Score
2.91
Exon sequences
Seq C1 exon
TTTTATGTGAGTCGAATGGAAACTAGCACAGTGCTGAAAGATCTGAAACCTGAAACTGAATATGTTGTCAATGTGTATTCTGTGGTAGAAGATGAATATAGTGAGCCTCTGAAGGGGACAGAAAAAACCT
Seq A exon
TGCCAGTGCCTGTAGTCAGCCTGAATATTTATGATGTTGGCCCTACCACCATGCATGTGCAGTGGCAGCCTGTGGGAGGAGCTACTGGCTACATCTTGTCATACAAACCTGTTAAGGACACAGAGCCAACAAGACCCAAAGAG
Seq C2 exon
GTGCGTTTGGGGCCAACAGTGAATGACATGCAGCTGACTGACCTTGTTCCCAACACGGAGTATGCAGTCACAGTCCAGGCTGTCCTGCACGACCTCACTAGTGAACCTGTCACTGTTCGGGAAGTCACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'39-52,'39-50,42-52
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.066 A=0.187 C2=0.368
Domain overlap (PFAM):
C1:
PF0004116=fn3=PD(43.8=79.5)
A:
PF0004116=fn3=PU(54.9=93.8)
C2:
PF0004116=fn3=PD(42.7=79.5)
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:
CGAATGGAAACTAGCACAGTGC
R:
AGGTGACTTCCCGAACAGTGA
Band lengths:
248-391
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