Special

HsaEX0071401 @ hg38

Exon Skipping

Gene
Description
diphthamide biosynthesis 7 [Source:HGNC Symbol;Acc:HGNC:25199]
Coordinates
chr9:137564893-137576167:-
Coord C1 exon
chr9:137576080-137576167
Coord A exon
chr9:137574752-137574843
Coord C2 exon
chr9:137564893-137565154
Length
92 bp
Sequences
Splice sites
3' ss Seq
AGTTTCTTCTTCTCCAGTAGAAG
3' ss Score
3.57
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GTGTCACATCCCGGTGGCTGGACATGCCCTCTTGGGCTTGGCAGATGCCAGTGGATCCATACAACTGCTCCGCCTGGTGGAATCTGAG
Seq A exon
AAGAGCCACGTGCTGGAGCCATTGTCCAGCCTTGCCCTGGAGGAGCAGTGTCTGGCTTTGTCCCTAGATTGGTCCACTGGGAAAACTGGAAG
Seq C2 exon
GGGGCGACGATGGCCTTCTGAGGGGCTGGGACACCAGGGTACCCGGCAAATTTCTCTTCACCAGCAAAAGGTAACTGCCCAAGGGCCAGCACTCGGTGCCCACACCAGCCCCCGCGTTCCCTGGGTCACCAGCCCTCCCGTTCCCTGGGTGGGTCTGTGTGCTGGACACTGGTTCAGAAGCCGCCTCTGCTTGCAGACACACCATGGGTGTGTGCAGCATCCAGAGCAGCCCTCATCGGGAGCACATCCTGGCCACGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148399_MULTIEX1-6/7=4-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0040027=WD40=FE(55.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000277540fB7822


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCCGGTGGCTGGACATG
R:
GCCCTTGGGCAGTTACCTTTT
Band lengths:
167-259
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