HsaEX1016322 @ hg38
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:144007182-144128044:-
Coord C1 exon
chr2:144127998-144128044
Coord A exon
chr2:144127138-144127264
Coord C2 exon
chr2:144007182-144007535
Length
127 bp
Sequences
Splice sites
3' ss Seq
GTTTGTTATGTTTTATTTAGTGG
3' ss Score
5.84
5' ss Seq
CTTGTAAGT
5' ss Score
8
Exon sequences
Seq C1 exon
GGTGGCTGTAGCAACACTCCTGTTCTGCCTCTTCCTGTGGCTATCAG
Seq A exon
TGGCTGTTATTCAGCATTAGCACTGTGGAAGAGGGCTGTTATGATCAATAACAATCAGCTATTCATATCATTATATGTAATCTTTGAGTACTTGACTCTGATTGAAAACCTGTTTCTCTTCATGCTT
Seq C2 exon
ATTCATGCCCAAGCACAAAACAACCCATTTAAAGAAGATGCTCGGCCTTAAAGGAAATGGCGGTGCGGTTCTGTCCATGGCCCTTCCTTTTCAGCCAGAGCAGAGAGATTCAGAGGATTTATTGAAGAATTTTAATTCAGAGTGTGATACACACTGTGGCCTTGATACTGCACGACAAGAATATTTGGGTAACTCATTAAGACAGGAATCAGACTTGAAAAAATCCACCTCGTCAGATAATTCAAGCTCTCATCATGGTGAAAATAAACAAAATCTGACTGTTGATCCCTGTGACATTTTGGGTGGAGTTGATAATCAGCAAAGACTGCTACACATTGTCTGGCCTCACAGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964_MULTIEX1-24/31=23-28
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.239
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0053415=Glycos_transf_1=PU(7.2=9.2)
Main Inclusion Isoform:
ENST00000344850fB16787
Main Skipping Isoform:
ENST00000344850fB3094
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGCTGTAGCAACACTCC
R:
GAGTTACCCAAATATTCTTGTCGTGC
Band lengths:
242-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains