Special

HsaEX0071394 @ hg38

Exon Skipping

Gene
Description
diphthamide biosynthesis 7 [Source:HGNC Symbol;Acc:HGNC:25199]
Coordinates
chr9:137576309-137578888:-
Coord C1 exon
chr9:137578625-137578888
Coord A exon
chr9:137577577-137577603
Coord C2 exon
chr9:137576309-137576402
Length
27 bp
Sequences
Splice sites
3' ss Seq
TACCTCTGCATTTTTTGTAGGGT
3' ss Score
8.16
5' ss Seq
CAGGTCCGT
5' ss Score
6.47
Exon sequences
Seq C1 exon
GGGGCTCTGCGCTCGTCCGGCCGGCCCCGGCCTCGCCGCCCCGCGCAGTACCCAGCCCGGCCCCGCCGACCCGCCTCTACTGCCGGCTCCGCGCCCTTCCCCGAGGGCTGGATGATGGGCTGTTTCGCCCTGCAAACGGTGGACACCGAGCTGACCGCGGACTCGGTGGAGTGGTGCCCGCTGCAAGGCTGCAGGCACCTGCTGGCGTGCGGGACCTACCAGCTGCGGCGGCCGGAGGACCGGCCTGCCGGCCCCCAGAACAAG
Seq A exon
GGTGGAATGGAAGTTAAGGAGCCTCAG
Seq C2 exon
ATATACAACCACTTCCTGTTGTGTCACACTTGCCTGCAGTAACATGCTGTAAGGTTTGTGGCATAGGAGCAGTGGGCCATACCATATAATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148399-'0-4,'0-3,3-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

Show structural model
Features
Disorder rate (Iupred):
  C1=0.203 A=0.112 C2=NA
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NA


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGGCTGCAGGCACCTG
R:
GGCAAGTGTGACACAACAGGA
Band lengths:
115-142
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development