Special

HsaEX6064332 @ hg38

Exon Skipping

Gene
Description
diphthamide biosynthesis 7 [Source:HGNC Symbol;Acc:HGNC:25199]
Coordinates
chr9:137554904-137565154:-
Coord C1 exon
chr9:137564893-137565154
Coord A exon
chr9:137564434-137564606
Coord C2 exon
chr9:137554904-137555648
Length
173 bp
Sequences
Splice sites
3' ss Seq
CTGTGGTTGGTCGGTTTCAGCTA
3' ss Score
6.97
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
GGGGCGACGATGGCCTTCTGAGGGGCTGGGACACCAGGGTACCCGGCAAATTTCTCTTCACCAGCAAAAGGTAACTGCCCAAGGGCCAGCACTCGGTGCCCACACCAGCCCCCGCGTTCCCTGGGTCACCAGCCCTCCCGTTCCCTGGGTGGGTCTGTGTGCTGGACACTGGTTCAGAAGCCGCCTCTGCTTGCAGACACACCATGGGTGTGTGCAGCATCCAGAGCAGCCCTCATCGGGAGCACATCCTGGCCACGGGAAG
Seq A exon
CTATGATGAACACATCCTACTGTGGGACACACGAAACATGAAGCAGCCGTTGGCAGATACGCCTGTGCAGGGTGGGGTATGGAGAATCAAGTGGCACCCTTTCCACCACCACCTGCTCCTGGCCGCCTGCATGCACAGTGGCTTTAAGATCCTCAACTGCCAAAAGGCAATGG
Seq C2 exon
AGGAGAGGCAGGAGGCGACGGTCCTGACATCTCACACATTGCCCGACTCGCTGGTGTATGGAGCCGACTGGTCCTGGCTGCTCTTCCGTTCTCTGCAGCGGGCCCCCTCGTGGTCCTTTCCTAGCAACCTAGGAACCAAGACGGCAGACCTGAAGGGTGCAAGCGAGTTGCCAACACCCTGTCATGAATGCAGAGAGGATAACGATGGGGAGGGCCATGCCAGACCCCAGAGTGGAATGAAGCCACTCACAGAGGGCATGAGGAAGAATGGCACCTGGCTGCAGGCTACAGCAGCCACCACACGTGACTGTGGCGTGAACCCAGAAGAAGCAGACTCAGCCTTCAGCCTCCTGGCCACCTGCTCCTTCTATGACCATGCGCTCCACCTCTGGGAGTGGGAGGGGAACTGAGCTTGAAATCATGAAGCCCCTTCCCACAAGGAAACCAGGAGGGAGACTGCGAGTGAGTGCCCGGGACCACCTCATCAGAGATGCTTACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148399-'17-27,'17-18,21-27=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.368
Domain overlap (PFAM):

C1:
PF0040027=WD40=FE(55.0=100)
A:
PF0040027=WD40=PD(22.5=15.3)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
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:
GGACACTGGTTCAGAAGCCG
R:
CCGTCTTGGTTCCTAGGTTGC
Band lengths:
243-416
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains