Special

HsaEX0022525 @ hg38

Exon Skipping

Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95711779-95839808:+
Coord C1 exon
chr10:95711779-95711993
Coord A exon
chr10:95823237-95823364
Coord C2 exon
chr10:95839691-95839808
Length
128 bp
Sequences
Splice sites
3' ss Seq
TCTTCTGCTTTTGGTTTTAGAGT
3' ss Score
10.1
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GTGTACGTGTAAAATTATGATCAAATAAATTTGTATGCCTTTTCTCCTATTAACCTGCCTTTTTTGTCAGCGATTGTCAGTGAAACTTCAGAGGGCAAAGGGGAAGTTTTCCTTGGCCCCTCCAGTTTTGGTGCTGTGAACAGGATACCAAAGCTGCTCTGTTCTTCTGGAAGCTGCAATGAAGGGAACCAAGGACCTGACAAGCCAGCAGAAGG
Seq A exon
AGTCTAACGTGAAGACATTTTGCTCCAAGAATATCCTAGCCATCCTTGGCTTCTCCTCTATCATAGCTGTGATAGCTTTGCTTGCTGTGGGGTTGACCCAGAACAAAGCATTGCCAGAAAACGTTAAG
Seq C2 exon
TATGGGATTGTGCTGGATGCGGGTTCTTCTCACACAAGTTTATACATCTATAAGTGGCCAGCAGAAAAGGAGAATGACACAGGCGTGGTGCATCAAGTAGAAGAATGCAGGGTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX2-6/9=2-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.872 A=0.003 C2=0.022
Domain overlap (PFAM):

C1:
NO
A:
PF0115012=GDA1_CD39=PU(13.6=18.6)
C2:
PF0115012=GDA1_CD39=FE(16.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000453258fB2369


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGTGAAACTTCAGAGGGCA
R:
TTCTACTTGATGCACCACGCC
Band lengths:
242-370
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