HsaEX0028916 @ hg38
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:144145572-144211579:-
Coord C1 exon
chr2:144211515-144211579
Coord A exon
chr2:144208603-144208804
Coord C2 exon
chr2:144145572-144145739
Length
202 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTGGTTGTTATTTAGGAT
3' ss Score
8.41
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
ATTGTGCTTCAAGAAGACCATAGGGAAGAACGCATTTTCATCTTGCTGCAAAAGTTGCAATAGAA
Seq A exon
GATCTGAAGGTTTGAATGGGCCAATGAGTATCCTCATCATTGAAGCATTCTATGGAGGCTCCCATAAACAGCTGGTGGATCTTCTTCAAGAAGAGTTAGGAGACTGTGTCGTTTATACCCTTCCTGCAAAGAAATGGCATTGGAGAGCCCGGACATCTGCTTTATATTTCTCTCAGACCATTCCCATCAGTGAGCATTACAG
Seq C2 exon
GACCCTCTTTGCAAGTTCAGTGCTTAACCTGACCGAACTGGCTGCCCTTCGGCCTGACCTTGGGAAACTGAAAAAGATTCTGTATTTTCACGAGAACCAGTTGATATATCCTGTCAAGAAATGTCAGGAGAGGGATTTCCAATATGGATACAACCAAATTCTTTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964_MULTIEX1-17/31=13-20
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF120383=DUF3524=PU(35.3=98.3)
C2:
PF120383=DUF3524=FE(33.5=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:
TTGTGCTTCAAGAAGACCATAGGG
R:
TCCATATTGGAAATCCCTCTCCTGA
Band lengths:
212-414
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