HsaEX0028917 @ hg19
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase-like domain containing 1 [Source:HGNC Symbol;Acc:20887]
Coordinates
chr2:144903139-144966371:-
Coord C1 exon
chr2:144966170-144966371
Coord A exon
chr2:144936402-144936527
Coord C2 exon
chr2:144903139-144903306
Length
126 bp
Sequences
Splice sites
3' ss Seq
CTAACTCTCGTTTTTACCAGGCA
3' ss Score
8.66
5' ss Seq
TTGGTGACT
5' ss Score
1.23
Exon sequences
Seq C1 exon
GATCTGAAGGTTTGAATGGGCCAATGAGTATCCTCATCATTGAAGCATTCTATGGAGGCTCCCATAAACAGCTGGTGGATCTTCTTCAAGAAGAGTTAGGAGACTGTGTCGTTTATACCCTTCCTGCAAAGAAATGGCATTGGAGAGCCCGGACATCTGCTTTATATTTCTCTCAGACCATTCCCATCAGTGAGCATTACAG
Seq A exon
GCAATCAGAAATTACAAATTAGGAAACAGGAGAGATGAGAATGGAATGTTAACCTTTTGGTATGAAGCAGGTCAACATTGAAAATGCAAGAAGCCTGGATCCAGCTTCCTGAAAAGAAGCTCCTTG
Seq C2 exon
GACCCTCTTTGCAAGTTCAGTGCTTAACCTGACCGAACTGGCTGCCCTTCGGCCTGACCTTGGGAAACTGAAAAAGATTCTGTATTTTCACGAGAACCAGTTGATATATCCTGTCAAGAAATGTCAGGAGAGGGATTTCCAATATGGATACAACCAAATTCTTTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964_MULTIEX1-8/17=7-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF120383=DUF3524=PU(90.8=98.3),PF130801=DUF3926=WD(100=40.0)
A:
PF120383=DUF3524=PD(7.7=62.5)
C2:
PF120383=DUF3524=FE(33.5=100)
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGAAGGTTTGAATGGGCCA
R:
GCCAGTTCGGTCAGGTTAAGC
Band lengths:
242-368
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
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)