HsaEX0071400 @ hg38
Exon Skipping
Gene
ENSG00000148399 | DPH7
Description
diphthamide biosynthesis 7 [Source:HGNC Symbol;Acc:HGNC:25199]
Coordinates
chr9:137574752-137576167:-
Coord C1 exon
chr9:137576080-137576167
Coord A exon
chr9:137575709-137575923
Coord C2 exon
chr9:137574752-137574843
Length
215 bp
Sequences
Splice sites
3' ss Seq
ATGTGGAGTCTATTTTTAAGTTG
3' ss Score
1.22
5' ss Seq
CACGTGAGT
5' ss Score
9.3
Exon sequences
Seq C1 exon
GTGTCACATCCCGGTGGCTGGACATGCCCTCTTGGGCTTGGCAGATGCCAGTGGATCCATACAACTGCTCCGCCTGGTGGAATCTGAG
Seq A exon
TTGTATTGCGTTCTACATCCAACTCCAAGAGGAAGTCACCTCATGTGTCACCAGCAGAAGGGCTGAAGTGACAGGATGTTCATTGACCTGTCAGTGGATCTGAAAGTTCTCTAAGGAGAGCCTGGGCAAGCATTCTTAGGTTGATGCTGGGGCCCAGAGTAGCAGTGAGCATCCTGTGTGAAGATGGCATTTCTCACTGATTATTGGAAAAGCAC
Seq C2 exon
AAGAGCCACGTGCTGGAGCCATTGTCCAGCCTTGCCCTGGAGGAGCAGTGTCTGGCTTTGTCCCTAGATTGGTCCACTGGGAAAACTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148399_MULTIEX1-5/7=4-6
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.333 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000277540fB7822
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
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:
GTGTCACATCCCGGTGGC
R:
CTTCCAGTTTTCCCAGTGGACC
Band lengths:
180-395
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