HsaEX0022528 @ hg38
Exon Skipping
Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95839691-95844847:+
Coord C1 exon
chr10:95839691-95839808
Coord A exon
chr10:95842344-95842494
Coord C2 exon
chr10:95844476-95844847
Length
151 bp
Sequences
Splice sites
3' ss Seq
TCTTCTACATTTTTTCCTAGGTC
3' ss Score
9.21
5' ss Seq
CAGGTATAG
5' ss Score
8.73
Exon sequences
Seq C1 exon
TATGGGATTGTGCTGGATGCGGGTTCTTCTCACACAAGTTTATACATCTATAAGTGGCCAGCAGAAAAGGAGAATGACACAGGCGTGGTGCATCAAGTAGAAGAATGCAGGGTTAAAG
Seq A exon
GTCCTGGAATCTCAAAATTTGTTCAGAAAGTAAATGAAATAGGCATTTACCTGACTGATTGCATGGAAAGAGCTAGGGAAGTGATTCCAAGGTCCCAGCACCAAGAGACACCCGTTTACCTGGGAGCCACGGCAGGCATGCGGTTGCTCAG
Seq C2 exon
GATGGAAAGTGAAGAGTTGGCAGACAGGGTTCTGGATGTGGTGGAGAGGAGCCTCAGCAACTACCCCTTTGACTTCCAGGGTGCCAGGATCATTACTGGCCAAGAGGAAGGTGCCTATGGCTGGATTACTATCAACTATCTGCTGGGCAAATTCAGTCAGGTGAATATCTCACAGCATCCATGGAGGTGGCTCTCTGGAGGCCAATGCCATTGCTATCTCAGGCAGTACTTGGGTCGCTAGCCAGAATGAATGAATGAATGATAGATGGATGGATGGATGGATGACTGGATGAATGAATTTACTCTCACATTTGTAAGGGTCACCAGAGGTATAATTCTCTTACAAGACCTTCTACTATTGGGAGAATAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX2-8/9=7-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.022 A=0.063 C2=0.005
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(16.5=100)
A:
PF0115012=GDA1_CD39=PU(67.4=96.7)
C2:
PF0115012=GDA1_CD39=PD(16.9=18.5)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTGGCCAGCAGAAAAGGAG
R:
ACCTCCATGGATGCTGTGAGA
Band lengths:
255-406
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