HsaEX6048205 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75125127-75128425:-
Coord C1 exon
chr6:75128296-75128425
Coord A exon
chr6:75126351-75126470
Coord C2 exon
chr6:75125127-75125273
Length
120 bp
Sequences
Splice sites
3' ss Seq
GTGTCAATGTTTGTTTTCAGTGG
3' ss Score
8.03
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
ACCACAGTCCCAGGCAGAAGAAACAATGTAATACTGCAGCCCCTGCAACCTGACACTCCATATAAAATTACTGTTATTGCTGTTTATGAAGATGGAGATGGTGGCCATCTAACAGGAAATGGAAGAACTG
Seq A exon
TGGGACTCCTTCCTCCTCAGAACATACACATCTCTGACGAATGGTATACAAGATTCAGGGTGTCCTGGGATCCTTCACCTTCTCCAGTTCTTGGATATAAAATAGTATATAAGCCAGTGG
Seq C2 exon
GTTCCAATGAGCCCATGGAAGCCTTTGTTGGAGAAATGACATCATATACCTTACACAATCTCAATCCCAGCACCACCTACGATGTGAATGTTTATGCTCAATATGATTCTGGACTCAGTGTCCCCTTGACAGATCAAGGCACTACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'63-74,'63-73,64-74=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.318 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0004116=fn3=PD(44.6=84.1)
A:
PF0004116=fn3=PU(46.8=90.2)
C2:
PF0004116=fn3=PD(51.9=82.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGTCCCAGGCAGAAGAAAC
R:
ACACTGAGTCCAGAATCATATTGAGC
Band lengths:
248-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains