HsaEX0028909 @ hg38
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:143952773-144007535:-
Coord C1 exon
chr2:144007182-144007535
Coord A exon
chr2:143970653-143970762
Coord C2 exon
chr2:143952773-143952843
Length
110 bp
Sequences
Splice sites
3' ss Seq
TTTTGTGTGTTTATTTCCAGGGA
3' ss Score
10.5
5' ss Seq
CAGGTACCT
5' ss Score
8.16
Exon sequences
Seq C1 exon
ATTCATGCCCAAGCACAAAACAACCCATTTAAAGAAGATGCTCGGCCTTAAAGGAAATGGCGGTGCGGTTCTGTCCATGGCCCTTCCTTTTCAGCCAGAGCAGAGAGATTCAGAGGATTTATTGAAGAATTTTAATTCAGAGTGTGATACACACTGTGGCCTTGATACTGCACGACAAGAATATTTGGGTAACTCATTAAGACAGGAATCAGACTTGAAAAAATCCACCTCGTCAGATAATTCAAGCTCTCATCATGGTGAAAATAAACAAAATCTGACTGTTGATCCCTGTGACATTTTGGGTGGAGTTGATAATCAGCAAAGACTGCTACACATTGTCTGGCCTCACAGGTG
Seq A exon
GGAGCATGATAAAGATCCAGAAAGCTTTTTTAAGGTATTAATGCATCTTAAAGACTTAGGACTCAATTTCCACGTGTCTGTACTTGGAGAAACCTTCACAGATGTCCCAG
Seq C2 exon
GTTGGAAGCTGTGTACTGTGGGTGTTACCCACTTTGTCCTAAAGATTTGGTTTATCCCGAAATATTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964_MULTIEX1-29/31=28-31
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.239 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0053415=Glycos_transf_1=PU(7.2=9.2)
A:
PF0053415=Glycos_transf_1=FE(24.2=100)
C2:
PF0053415=Glycos_transf_1=FE(15.7=100)
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:
GGCCTTGATACTGCACGACAA
R:
ACCAAATCTTTAGGACAAAGTGGGT
Band lengths:
248-358
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