Special

HsaEX1013149 @ hg38

Exon Skipping

Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95847446-95864861:+
Coord C1 exon
chr10:95847446-95847706
Coord A exon
chr10:95860469-95860582
Coord C2 exon
chr10:95864724-95864861
Length
114 bp
Sequences
Splice sites
3' ss Seq
ACTGCGATTTTCTCTTGTAGGCA
3' ss Score
10.56
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTTGCAAGTAATGAAATTCTCAGGGACCCATGCTTTCATCCTGGATATAAGAAGGTAGTGAACGTAAGTGACCTTTACAAGACCCCCTGCACCAAGAGATTTGAGATGACTCTTCCATTCCAGCAGTTTGAAATCCAGGGTATTGGAAACTATCAACAATGCCATCAAAGCATCCTGGAGCTCTTCAACACCAGTTACTGCCCTTACTCCCAGTGTGCCTTCAATGGGATTTTCTTGCCACCACTCCAGGGGGATTTTGGG
Seq A exon
GCATTTTCAGCTTTTTACTTTGTGATGAAGTTTTTAAACTTGACATCAGAGAAAGTCTCTCAGGAAAAGGTGACTGAGATGATGAAAAAGTTCTGTGCTCAGCCTTGGGAGGAG
Seq C2 exon
ATAAAAACATCTTACGCTGGAGTAAAGGAGAAGTACCTGAGTGAATACTGCTTTTCTGGTACCTACATTCTCTCCCTCCTTCTGCAAGGCTATCATTTCACAGCTGATTCCTGGGAGCACATCCATTTCATTGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185_MULTIEX3-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0115012=GDA1_CD39=FE(19.9=100)
A:
PF0115012=GDA1_CD39=FE(11.1=100)
C2:
PF0115012=GDA1_CD39=FE(10.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000371205fB2368


Other Skipping Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGCAGTTTGAAATCCAGGGT
R:
TCCCAGGAATCAGCTGTGAAA
Band lengths:
258-372
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains