HsaEX0016290 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75189552-75192355:-
Coord C1 exon
chr6:75192212-75192355
Coord A exon
chr6:75191701-75191760
Coord C2 exon
chr6:75189552-75189815
Length
60 bp
Sequences
Splice sites
3' ss Seq
ATAATAAAGTTTTAACTTAGTTC
3' ss Score
-0.86
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
ATGGGCCTACTAAAGAATTTACCCTTTCAGCTAGTACCACTGAAACTTTATTGTCAGAACTTGTACCTGAAACAGAGTATGTGGTGACAATAACTTCATATGATGAAGTAGAAGAAAGTGTACCAGTTATAGGACAACTAACAA
Seq A exon
TTCAAACAGGTAGTTCGACAAAGCCAGTGGAGAAGAAACCTGGAAAAACCGAGATACAAA
Seq C2 exon
AATGCTCTGTCAGTGCCTGGACTGATTTGGTTTTCCTCGTGGATGGCTCTTGGAGTGTGGGAAGAAATAATTTCAAGTACATTTTAGACTTCATTGCTGCTCTTGTGTCTGCTTTTGACATTGGGGAAGAGAAGACAAGAGTTGGAGTTGTTCAATACAGCTCTGATACCAGGACTGAATTTAACTTAAATCAGTACTACCAAAGGGATGAACTTCTTGCTGCAATAAAAAAAATTCCATATAAAGGTGGCAACACAATGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'10-17,'10-12,12-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.110 A=0.448 C2=0.000
Domain overlap (PFAM):
C1:
PF0004116=fn3=PD(51.2=83.7)
A:
NO
C2:
PF0009223=VWA=PU(46.2=89.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTGAAACAGAGTATGTGGTGAC
R:
CACACTCCAAGAGCCATCCAC
Band lengths:
139-199
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