HsaEX0022526 @ hg38
Exon Skipping
Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95711779-95823364:+
Coord C1 exon
chr10:95711779-95711993
Coord A exon
chr10:95810633-95810806
Coord C2 exon
chr10:95823237-95823364
Length
174 bp
Sequences
Splice sites
3' ss Seq
CATATTCCTTCTTCACTCAGGTA
3' ss Score
8.76
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
GTGTACGTGTAAAATTATGATCAAATAAATTTGTATGCCTTTTCTCCTATTAACCTGCCTTTTTTGTCAGCGATTGTCAGTGAAACTTCAGAGGGCAAAGGGGAAGTTTTCCTTGGCCCCTCCAGTTTTGGTGCTGTGAACAGGATACCAAAGCTGCTCTGTTCTTCTGGAAGCTGCAATGAAGGGAACCAAGGACCTGACAAGCCAGCAGAAGG
Seq A exon
GTACAAAATTCAGTAGGACACGACTTTCTGAGTCATATGCTGGATTTGAGGAGATACTGAAGCCACAAGACTGAAATAACTTTTAAACTGTGGGTGATTTGGCTAAAAGCTACTCTCATCTATTATATATTCATCTTACTAGTTTTGCTCTCAGAGGAAGTTCCTGTTTCCAAG
Seq C2 exon
AGTCTAACGTGAAGACATTTTGCTCCAAGAATATCCTAGCCATCCTTGGCTTCTCCTCTATCATAGCTGTGATAGCTTTGCTTGCTGTGGGGTTGACCCAGAACAAAGCATTGCCAGAAAACGTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX2-4/9=2-6
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.872 A=0.625 C2=0.003
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0115012=GDA1_CD39=PU(13.6=18.6)
Main Inclusion Isoform:
ENST00000453258fB2369
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:
TCAGAGGGCAAAGGGGAAGTT
R:
TGGCAATGCTTTGTTCTGGGT
Band lengths:
244-418
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