HsaEX1009494 @ hg38
Exon Skipping
Gene
ENSG00000198756 | COLGALT2
Description
collagen beta(1-O)galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16790]
Coordinates
chr1:183963901-183967255:-
Coord C1 exon
chr1:183967155-183967255
Coord A exon
chr1:183966654-183966905
Coord C2 exon
chr1:183963901-183964020
Length
252 bp
Sequences
Splice sites
3' ss Seq
TCCTAAATCTTTCACCCCAGACT
3' ss Score
7.06
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
CTGGCGGTGCAGACCATGAACAGGGCAGGAGTCAAGGCAGGAAAGATTCACTGTCATTTTGGGGAAATGAAAGGTCTTTCTTGACAACTGTGGATTTTAAG
Seq A exon
ACTCTAGCCATTGCCCCATGTGGGTGATGAGTGAGGAGCAATCCAAGTGTGCTGGTGAGCAGGGCTTGGCCACCCTTCTAGCCCAAGAAGAGAGCACATATGGTCATAGGCGCGTCTCTGTTCCTGTAATGAGTCCAGGGTCAAGAGTTCACCTCCCATTGTGGCCAGTGATCTGGGTTCTGTATCATGGCCACAGGAATCATCCCAGTGCCAGCCAGTCGTCTTCCAAATGTCTGATGTGAGTCAAAAGAG
Seq C2 exon
GCATCCAGATGTACCTCTGCAACAGAGAGCACTATGGCTACCTGCCCATCCCCCTGAAGCCCCATCAGACACTGCAGGAAGACATCGAGAACCTCATCCATGTGCAGATTGAAGCAATGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198756-'15-9,'15-7,16-9
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.037 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000361927fB12826
Main Skipping Isoform:
ENST00000361927fB2949
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGCGGTGCAGACCATG
R:
CATTGCTTCAATCTGCACATGGA
Band lengths:
220-472
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains