HsaEX1013150 @ hg38
Exon Skipping
Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95845357-95847706:+
Coord C1 exon
chr10:95845357-95845596
Coord A exon
chr10:95846083-95846439
Coord C2 exon
chr10:95847446-95847706
Length
357 bp
Sequences
Splice sites
3' ss Seq
TCTTGTCATCTTGTCCCCAGATG
3' ss Score
10.78
5' ss Seq
CATGTGAGT
5' ss Score
7.83
Exon sequences
Seq C1 exon
AAAACAAGGTGGTTCAGCATAGTCCCATATGAAACCAATAATCAGGAAACCTTTGGAGCTTTGGACCTTGGGGGAGCCTCTACACAAGTCACTTTTGTACCCCAAAACCAGACTATCGAGTCCCCAGATAATGCTCTGCAATTTCGCCTCTATGGCAAGGACTACAATGTCTACACACATAGCTTCTTGTGCTATGGGAAGGATCAGGCACTCTGGCAGAAACTGGCCAAGGACATTCAG
Seq A exon
ATGCCTTCTGCATTTTGAAGACAAGAAAAGTTAAACACACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAGAAAAAAAATTAGCTGGGCATGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGAAAGGAGAATCACTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAGAAAAAAAAGAAAAGAAAAAGAAAAAGAAAACAAAAGTTAAACATACTCAACATCAT
Seq C2 exon
GTTGCAAGTAATGAAATTCTCAGGGACCCATGCTTTCATCCTGGATATAAGAAGGTAGTGAACGTAAGTGACCTTTACAAGACCCCCTGCACCAAGAGATTTGAGATGACTCTTCCATTCCAGCAGTTTGAAATCCAGGGTATTGGAAACTATCAACAATGCCATCAAAGCATCCTGGAGCTCTTCAACACCAGTTACTGCCCTTACTCCCAGTGTGCCTTCAATGGGATTTTCTTGCCACCACTCCAGGGGGATTTTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX4-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.017 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(18.3=100)
A:
PF0115012=GDA1_CD39=PD(1.3=50.0)
C2:
PF0115012=GDA1_CD39=FE(19.9=100)
Main Inclusion Isoform:
ENST00000371205fB14805
Other Inclusion Isoforms:
NA
Associated events
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:
GGGGAGCCTCTACACAAGTCA
R:
CTCCAGGATGCTTTGATGGCA
Band lengths:
350-707
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains