HsaEX6048199 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75133293-75134855:-
Coord C1 exon
chr6:75134726-75134855
Coord A exon
chr6:75133858-75133997
Coord C2 exon
chr6:75133293-75133422
Length
140 bp
Sequences
Splice sites
3' ss Seq
GGGATTTCTGTGCATTTCAGAAC
3' ss Score
7
5' ss Seq
CTGGTAATT
5' ss Score
5.99
Exon sequences
Seq C1 exon
ACCACAATAGGAGGACGGCAGAACAGTGTGGTCCTGCAGAAACTGAAGCCAGACACTCCTTACACTATCACCGTATCCTCTCTGTATCCTGATGGTGAAGGAGGTCGGATGACGGGAAGAGGCAAGACCA
Seq A exon
AACCTCTAAACACTGTAAGGAACCTGAGAGTGTATGACCCTTCTACCAGCACCTTGAATGTCCGCTGGGACCATGCAGAGGGAAATCCTCGTCAGTACAAGCTCTTCTATGCACCAGCAGCAGGTGGTCCAGAGGAACTG
Seq C2 exon
GTACCAATCCCCGGGAATACCAATTATGCCATTCTTAGGAATCTGCAGCCAGATACCTCATACACTGTGACTGTAGTTCCCGTTTATACTGAAGGTGATGGGGGACGCACATCAGATACTGGAAGGACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'54-66,'54-65,56-66=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.798 A=0.639 C2=0.700
Domain overlap (PFAM):
C1:
PF0004116=fn3=PD(43.9=81.8)
A:
PF0004116=fn3=PU(52.4=91.5)
C2:
PF0004116=fn3=PD(45.1=84.1)
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:
ATAGGAGGACGGCAGAACAGT
R:
TATCTGATGTGCGTCCCCCAT
Band lengths:
242-382
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains