HsaEX0022524 @ hg38
Exon Skipping
Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95847446-95860582:+
Coord C1 exon
chr10:95847446-95847706
Coord A exon
chr10:95849411-95849616
Coord C2 exon
chr10:95860469-95860582
Length
206 bp
Sequences
Splice sites
3' ss Seq
CATGCTTTCTCCCTTTTCAGAAA
3' ss Score
12.72
5' ss Seq
TAGGTAATG
5' ss Score
7.57
Exon sequences
Seq C1 exon
GTTGCAAGTAATGAAATTCTCAGGGACCCATGCTTTCATCCTGGATATAAGAAGGTAGTGAACGTAAGTGACCTTTACAAGACCCCCTGCACCAAGAGATTTGAGATGACTCTTCCATTCCAGCAGTTTGAAATCCAGGGTATTGGAAACTATCAACAATGCCATCAAAGCATCCTGGAGCTCTTCAACACCAGTTACTGCCCTTACTCCCAGTGTGCCTTCAATGGGATTTTCTTGCCACCACTCCAGGGGGATTTTGGG
Seq A exon
AAAACAGATCAGCATGTAAGAAGGGAGGTTCAGCTCCTCCCCTCCAGGACCCCAGCAAGAGAGTTTCTCCTAAGGTCACCTGGCTTGGCCCAAGACAAAGCTCTAGAAGAGAACATAGGCACTGTCGTAATCAGATCTGATTCTACTTCTGGCTTCTTATGAACTGTATGAGCTCTTCATTTTCTTGGTCTCTGAGAAAACAATAG
Seq C2 exon
GCATTTTCAGCTTTTTACTTTGTGATGAAGTTTTTAAACTTGACATCAGAGAAAGTCTCTCAGGAAAAGGTGACTGAGATGATGAAAAAGTTCTGTGCTCAGCCTTGGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.038 C2=0.000
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(19.9=100)
A:
PF0115012=GDA1_CD39=PD(1.8=11.1)
C2:
PF0115012=GDA1_CD39=FE(11.1=100)
Main Inclusion Isoform:
ENST00000371205fB2368
Other Inclusion 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:
CTTTACAAGACCCCCTGCACC
R:
CCAAGGCTGAGCACAGAACTT
Band lengths:
297-503
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