HsaEX6048213 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75109018-75113744:-
Coord C1 exon
chr6:75113602-75113744
Coord A exon
chr6:75113204-75113313
Coord C2 exon
chr6:75109018-75109167
Length
110 bp
Sequences
Splice sites
3' ss Seq
CACTTTTATGTTGATTACAGCTT
3' ss Score
5.8
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
AGACCTACACCCAAATGGACTCCCTCCTTCATACACGATTATATTATTATTCAGACTTCTCCCAGAAACTCCCAGTGACCCTTTTGCAATTTGGCAAATCACAGACAGAGACTACAAACCACAAGTTGGAGTGATTGCAGATC
Seq A exon
CTTCTAGCAAGACGTTATCATTCTTTAACAAGGATACAAGAGGCGAGGTGCAAACTGTTACATTTGACACAGAAGAAGTAAAGACATTATTTTATGGAAGTTTTCACAAG
Seq C2 exon
GTTCATATTGTAGTGACCTCAAAAAGTGTTAAGATTTACATTGACTGCTATGAAATTATAGAAAAAGACATCAAGGAAGCTGGAAATATAACAACTGATGGTTATGAAATTCTTGGAAAACTCCTTAAAGGGGAAAGGAAATCAGCCGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'78-89,'78-88,80-89
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.011 A=0.045 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF079537=Toxin_R_bind_N=PU(35.4=94.6)
C2:
PF079537=Toxin_R_bind_N=FE(49.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
CAGACTTCTCCCAGAAACTCCC
R:
TGCGGCTGATTTCCTTTCCC
Band lengths:
242-352
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains