HsaEX0022529 @ hg38
Exon Skipping
Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3364]
Coordinates
chr9:137050902-137051660:-
Coord C1 exon
chr9:137051510-137051660
Coord A exon
chr9:137051211-137051370
Coord C2 exon
chr9:137050902-137051129
Length
160 bp
Sequences
Splice sites
3' ss Seq
GAGTTCTCTGTGTTTTGCAGCCT
3' ss Score
7.99
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
Exon sequences
Seq C1 exon
GTGGGGGCATCTCCAGCTATGCAGACAACCCTTCTGGGGCCAGCCAGAGTCTTGTTGGATGCCTCGAACAGGCGCTTCAGGATGTGCCCAAAGAGAGACACGCGGGCACACCCCTCTACCTGGGAGCCACAGCGGGTATGCGCCTGCTCAA
Seq A exon
CCTGACCAATCCAGAGGCCTCGACCAGTGTGCTCATGGCAGTGACTCACACACTGACCCAGTACCCCTTTGACTTCCGGGGTGCACGCATCCTCTCGGGCCAGGAAGAGGGGGTGTTTGGCTGGGTGACTGCCAACTACCTGCTGGAGAACTTCATCAAG
Seq C2 exon
TACGGCTGGGTGGGCCGGTGGTTCCGGCCACGGAAGGGGACACTGGGGGCCATGGACCTGGGGGGTGCCTCTACCCAGATCACTTTTGAGACAACCAGTCCAGCTGAGGACAGAGCCAGCGAGGTCCAGCTGCATCTCTACGGCCAGCACTACCGAGTCTACACCCACAGCTTCCTCTGCTATGGCCGTGACCAGGTCCTCCAGAGGCTGCTGGCCAGCGCCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179-'4-3,'4-2,5-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.039
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(14.1=100)
A:
PF0115012=GDA1_CD39=FE(15.0=100)
C2:
PF0115012=GDA1_CD39=FE(21.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTCAGGATGTGCCCAAAGA
R:
GGGTGTAGACTCGGTAGTGCT
Band lengths:
244-404
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development