HsaEX0028904 @ hg38
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:143970653-144142055:-
Coord C1 exon
chr2:144141882-144142055
Coord A exon
chr2:144007182-144007535
Coord C2 exon
chr2:143970653-143970762
Length
354 bp
Sequences
Splice sites
3' ss Seq
GCATTCTTTTTTTGTAACAGATT
3' ss Score
9.05
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
CCTGGTGGCTGATGTGGTTGTATTCAACTCAGTTTTTAATATGGAATCATTTCTCACTTCCATGGGAAAATTTATGAAGCTGATTCCTGATCACAGACCCAAGGATCTGGAAAGCATCATCAGACCCAAGTGCCAAGTTATTTACTTTCCCATCAGGTTTCCTGATGTGAGCAG
Seq A exon
ATTCATGCCCAAGCACAAAACAACCCATTTAAAGAAGATGCTCGGCCTTAAAGGAAATGGCGGTGCGGTTCTGTCCATGGCCCTTCCTTTTCAGCCAGAGCAGAGAGATTCAGAGGATTTATTGAAGAATTTTAATTCAGAGTGTGATACACACTGTGGCCTTGATACTGCACGACAAGAATATTTGGGTAACTCATTAAGACAGGAATCAGACTTGAAAAAATCCACCTCGTCAGATAATTCAAGCTCTCATCATGGTGAAAATAAACAAAATCTGACTGTTGATCCCTGTGACATTTTGGGTGGAGTTGATAATCAGCAAAGACTGCTACACATTGTCTGGCCTCACAGGTG
Seq C2 exon
GGAGCATGATAAAGATCCAGAAAGCTTTTTTAAGGTATTAATGCATCTTAAAGACTTAGGACTCAATTTCCACGTGTCTGTACTTGGAGAAACCTTCACAGATGTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964-'34-50,'34-43,52-50
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.239 C2=0.000
Domain overlap (PFAM):
C1:
PF120383=DUF3524=PD(30.5=86.4),PF0053415=Glycos_transf_1=PU(0.6=1.7)
A:
PF0053415=Glycos_transf_1=PU(7.2=9.2)
C2:
PF0053415=Glycos_transf_1=FE(24.2=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGTGGCTGATGTGGTTGTA
R:
GGGACATCTGTGAAGGTTTCTCC
Band lengths:
281-635
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