HsaEX0028916 @ hg19
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase-like domain containing 1 [Source:HGNC Symbol;Acc:20887]
Coordinates
chr2:144903139-144969146:-
Coord C1 exon
chr2:144969082-144969146
Coord A exon
chr2:144966170-144966371
Coord C2 exon
chr2:144903139-144903306
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_MULTIEX1-7/17=6-10
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(90.8=98.3),PF130801=DUF3926=WD(100=40.0)
C2:
PF120383=DUF3524=FE(33.5=100)
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:
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)