HsaEX0016280 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75084326-75123404:-
Coord C1 exon
chr6:75123330-75123404
Coord A exon
chr6:75121302-75121441
Coord C2 exon
chr6:75084326-75119473
Length
140 bp
Sequences
Splice sites
3' ss Seq
TCTGCTTTCTTTTTTTGCAGTAT
3' ss Score
10.15
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
Exon sequences
Seq C1 exon
CTGTGAAACCAACAGAAGCCCCTACAGAGCCACCCACACCTCCTCCCCCTCCCACCATTCCACCAGCCCGGGATG
Seq A exon
TATGCAAAGGGGCCAAGGCAGATATTGTGTTCTTGACTGATGCCTCCTGGAGCATTGGGGACGATAATTTTAACAAAGTTGTAAAATTCATCTTCAATACTGTGGGAGGCTTTGATGAAATCAGTCCTGCTGGGATTCAG
Seq C2 exon
GTTTCATTTGTGCAATACAGCGATGAGGTCAAGTCTGAGTTCAAGCTGAACACGTACAATGACAAGGCCCTAGCCCTTGGGGCCCTCCAGAATATTAGGTACAGAGGAGGAAACACAAGAACAGGTATGTGTATATGTAGACCTTTACTCTTCAAGCATTTGTAGTGGCAGAACTGAGTGTATTATCTCATGCTGATATCCAGATTCTTATCAGTTGGGTGTGACTAATGGCATTTGGGTAGTTTTCACTGAAGTGACACTAAAATTTTCCATGCCACATTCTGTAGGCAAGGCCCTCACGTTTATCAAGGAGAAAGTCTTGACTTGGGAGAGCGGCATGAGGAAGAATGTCCCTAAGGTGTTGGTTGTGGTCACGGACGGTCGGTCCCAGGATGAGGTCAAGAAGGCGGCTTTGGTCATCCAGCAGTCAGGCAAGCACATACATGAATTTGATTGCACTTGAAATTTTAACATTTTTAAATGTTCACAAATGATTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'69-80,'69-79,70-80
Average complexity
S
Mappability confidence:
88%=100=75%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.962 A=0.000 C2=0.166
Domain overlap (PFAM):
C1:
NO
A:
PF0009223=VWA=PU(22.4=83.0)
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGAAACCAACAGAAGCCCC
R:
ACACTCAGTTCTGCCACTACA
Band lengths:
255-395
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development