HsaEX0028907 @ hg38
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:144007182-144145739:-
Coord C1 exon
chr2:144145572-144145739
Coord A exon
chr2:144141882-144142055
Coord C2 exon
chr2:144007182-144007535
Length
174 bp
Sequences
Splice sites
3' ss Seq
TTTGTCTTTTACCTTTACAGCCT
3' ss Score
10.68
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
GACCCTCTTTGCAAGTTCAGTGCTTAACCTGACCGAACTGGCTGCCCTTCGGCCTGACCTTGGGAAACTGAAAAAGATTCTGTATTTTCACGAGAACCAGTTGATATATCCTGTCAAGAAATGTCAGGAGAGGGATTTCCAATATGGATACAACCAAATTCTTTCATG
Seq A exon
CCTGGTGGCTGATGTGGTTGTATTCAACTCAGTTTTTAATATGGAATCATTTCTCACTTCCATGGGAAAATTTATGAAGCTGATTCCTGATCACAGACCCAAGGATCTGGAAAGCATCATCAGACCCAAGTGCCAAGTTATTTACTTTCCCATCAGGTTTCCTGATGTGAGCAG
Seq C2 exon
ATTCATGCCCAAGCACAAAACAACCCATTTAAAGAAGATGCTCGGCCTTAAAGGAAATGGCGGTGCGGTTCTGTCCATGGCCCTTCCTTTTCAGCCAGAGCAGAGAGATTCAGAGGATTTATTGAAGAATTTTAATTCAGAGTGTGATACACACTGTGGCCTTGATACTGCACGACAAGAATATTTGGGTAACTCATTAAGACAGGAATCAGACTTGAAAAAATCCACCTCGTCAGATAATTCAAGCTCTCATCATGGTGAAAATAAACAAAATCTGACTGTTGATCCCTGTGACATTTTGGGTGGAGTTGATAATCAGCAAAGACTGCTACACATTGTCTGGCCTCACAGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964_MULTIEX1-21/31=20-28
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.239
Domain overlap (PFAM):
C1:
PF120383=DUF3524=FE(33.5=100)
A:
PF120383=DUF3524=PD(30.5=86.4),PF0053415=Glycos_transf_1=PU(0.6=1.7)
C2:
PF0053415=Glycos_transf_1=PU(7.2=9.2)
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:
GCTTAACCTGACCGAACTGGC
R:
CTCTGGCTGAAAAGGAAGGGC
Band lengths:
247-421
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development