HsaEX1016323 @ hg38
Exon Skipping
Gene
ENSG00000121964 | GTDC1
Description
glycosyltransferase like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20887]
Coordinates
chr2:144007182-144142055:-
Coord C1 exon
chr2:144141882-144142055
Coord A exon
chr2:144072436-144072543
Coord C2 exon
chr2:144007182-144007535
Length
108 bp
Sequences
Splice sites
3' ss Seq
AACTGTGTTCTGCCTTGCAGTTG
3' ss Score
9.91
5' ss Seq
TCTGTGAGT
5' ss Score
7
Exon sequences
Seq C1 exon
CCTGGTGGCTGATGTGGTTGTATTCAACTCAGTTTTTAATATGGAATCATTTCTCACTTCCATGGGAAAATTTATGAAGCTGATTCCTGATCACAGACCCAAGGATCTGGAAAGCATCATCAGACCCAAGTGCCAAGTTATTTACTTTCCCATCAGGTTTCCTGATGTGAGCAG
Seq A exon
TTGACATCAACTGGTTGAATGACCTTGGACAAGTCAAGTTACTAAAACTCTCTGAGTCTTAGTAAATGAGAAGACGGACTAAGTGCTCGAATCTAGTTTTAAAATTCT
Seq C2 exon
ATTCATGCCCAAGCACAAAACAACCCATTTAAAGAAGATGCTCGGCCTTAAAGGAAATGGCGGTGCGGTTCTGTCCATGGCCCTTCCTTTTCAGCCAGAGCAGAGAGATTCAGAGGATTTATTGAAGAATTTTAATTCAGAGTGTGATACACACTGTGGCCTTGATACTGCACGACAAGAATATTTGGGTAACTCATTAAGACAGGAATCAGACTTGAAAAAATCCACCTCGTCAGATAATTCAAGCTCTCATCATGGTGAAAATAAACAAAATCTGACTGTTGATCCCTGTGACATTTTGGGTGGAGTTGATAATCAGCAAAGACTGCTACACATTGTCTGGCCTCACAGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121964_MULTIEX1-25/31=21-28
Average complexity
C1
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:
PF120383=DUF3524=PD(30.5=86.4),PF0053415=Glycos_transf_1=PU(0.6=1.7)
A:
NO
C2:
PF0053415=Glycos_transf_1=PU(7.2=9.2)
Main Inclusion Isoform:
ENST00000344850fB16788
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GACCCAAGGATCTGGAAAGCA
R:
TTGTCGTGCAGTATCAAGGCC
Band lengths:
257-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains